Research

18 pages, 20680 KiB

Open AccessArticle

Rare Benign Tumors and Tumor-like Lesions of the Hand without Skin Damage—Clinical, Imagistic and Histopathological Diagnosis, Retrospective Study

by Mihaela Pertea, Oxana Madalina Grosu, Alexandru Filip, Dan Cristian Moraru, Stefana Luca, Madalina-Cristina Fotea, Sorinel Lunca, Doinita Olinici, Vladimir Poroch, Claudiu Carp and Bogdan Veliceasa

Diagnostics 2023, 13(6), 1204; https://doi.org/10.3390/diagnostics13061204 - 22 Mar 2023

Cited by 1 | Viewed by 2189

Abstract

Background: The broad spectrum of diagnoses and clinical features of hand tumors and the absence of pathognomonic signs often lead to an inaccurate or delayed diagnosis. However, only a few reports have comprehensively referenced the diagnosis and clinical features of hand tumors. This [...] Read more.

Background: The broad spectrum of diagnoses and clinical features of hand tumors and the absence of pathognomonic signs often lead to an inaccurate or delayed diagnosis. However, only a few reports have comprehensively referenced the diagnosis and clinical features of hand tumors. This study intends to highlight the clinical, imaging and histological characteristics of uncommon hand tumors or tumor-like lesions. Methods: In this retrospective study, we report a series of 80 patients diagnosed with rare hand tumors and tumor-like lesions without skin damage. Age, gender, tumor location, imaging examinations and clinical and laboratory findings were analyzed. The histopathological exam established the final diagnosis. Surgery was indicated and performed in all cases. Results: This study included: neurofibroma, glomus tumor, lipoma, schwannoma, epidermal inclusion cyst and idiopathic tenosynovitis with “rice bodies.” We have described the clinical, imagistic and histopathological particularities of these tumors. Surgical management included the complete removal of tumors, with no recurrence recorded within two years and overall high patient satisfaction. The most common findings were lipomas and the rarest neurofibromas. Conclusions: To optimize the care of hand tumors and reduce diagnostic and treatment errors, knowledge of hand tumor types and their clinical and laboratory characteristics is necessary for every surgeon. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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19 pages, 1398 KiB

Open AccessArticle

Diffuse Pulmonary Meningotheliomatosis: Clinic-Pathologic Entity or Indolent Metastasis from Meningioma (or Both)?

by Laura Melocchi, Giulio Rossi, Mirca Valli, Maria Cecilia Mengoli, Michele Mondoni, Luigi Lazzari-Agli, Giacomo Santandrea, Fabio Davoli, Chiara Baldovini, Alberto Cavazza and Thomas V. Colby

Diagnostics 2023, 13(4), 802; https://doi.org/10.3390/diagnostics13040802 - 20 Feb 2023

Cited by 3 | Viewed by 1784

Abstract

Pulmonary minute meningothelial-like nodules (MMNs) are common incidental findings in surgical specimens, consisting of tiny proliferation (usually no larger than 5–6 mm) of bland-looking meningothelial cells showing a perivenular and interstitial distribution, sharing morphologic, ultrastructural, and immunohistochemical profiles with meningiomas. The identification of [...] Read more.

Pulmonary minute meningothelial-like nodules (MMNs) are common incidental findings in surgical specimens, consisting of tiny proliferation (usually no larger than 5–6 mm) of bland-looking meningothelial cells showing a perivenular and interstitial distribution, sharing morphologic, ultrastructural, and immunohistochemical profiles with meningiomas. The identification of multiple bilateral MMNs leading to an interstitial lung disease characterized by diffuse and micronodular/miliariform patterns radiologically allows the diagnosis of diffuse pulmonary meningotheliomatosis (DPM). Nevertheless, the lung is the most common site of metastatic primary intracranial meningioma, and differential diagnosis with DPM may be impossible without clinic–radiologic integration. Herein, we report four cases (three females; mean age, 57.5 years) fitting the criteria of DPM, all incidentally discovered and histologically evidenced on transbronchial biopsy (2) and surgical resection (2). All cases showed immunohistochemical expression of epithelial membrane antigen (EMA), progesterone receptor, and CD56. Notably, three of these patients had a proven or radiologically suspected intracranial meningioma; in two cases, it was discovered before, and in one case, after the diagnosis of DPM. An extensive literature review (44 patients with DPM) revealed similar cases with imaging studies excluding intracranial meningioma in only 9% (4 of 44 cases studied). The diagnosis of DPM requires close correlation with the clinic–radiologic data since a subset of cases coexist with or follow a previously diagnosed intracranial meningioma and, thus, may represent incidental and indolent metastatic deposits of meningioma. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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9 pages, 1442 KiB

Open AccessArticle

Immunohistochemistry for Claudin-4 and BAP1 in the Differential Diagnosis between Sarcomatoid Carcinoma and Sarcomatoid Mesothelioma

by Lina Zuccatosta, Tommaso Bizzarro, Giulio Rossi, Graziana Gallo, Stefano Gasparini and Andrea Ambrosini-Spaltro

Diagnostics 2023, 13(2), 249; https://doi.org/10.3390/diagnostics13020249 - 09 Jan 2023

Cited by 4 | Viewed by 1313

Abstract

(1) Background. In the differential diagnosis between sarcomatoid carcinoma (SC) and sarcomatoid mesothelioma (SM), we aimed to investigate the role of Claudin-4 and BAP1, a panel recently used to distinguish conventional carcinoma from epithelioid mesothelioma. (2) Methods. We collected 41 surgical pleural biopsies [...] Read more.

(1) Background. In the differential diagnosis between sarcomatoid carcinoma (SC) and sarcomatoid mesothelioma (SM), we aimed to investigate the role of Claudin-4 and BAP1, a panel recently used to distinguish conventional carcinoma from epithelioid mesothelioma. (2) Methods. We collected 41 surgical pleural biopsies of SM, 46 surgical resections of SC from different sites and 49 pleural biopsies of normal/hyperplastic mesothelium. All the cases were tested for Claudin-4 and BAP1 using immunohistochemistry. The statistical calculations of the sensitivity, specificity and positive and negative predictive values were performed. (3) Results: Claudin-4 was negative in 41/41 SMs, while it was positive in 18/36 (50.1%) SCs (eight diffusely, 10 focally) within their sarcomatous component. BAP1 was lost in 23/41 SMs, while it was regularly expressed in 46/46 SCs. All the cases of the normal/hyperplastic mesothelium were negative for Claudin-4 and retained the regular expression of BAP1. The Claudin-4 expression was useful for detecting SC (sensitivity, 39.1%; specificity, 100%) and the BAP1 loss was useful for diagnosing SM (sensitivity, 56.1%; specificity, 100%). (4) Conclusions. The staining for Claudin-4 and BAP1 exhibited a low/moderate sensitivity in diagnosing SC and SM (39.1% and 56.1%, respectively), but a very high specificity (100%). Claudin-4 was expressed only in SC and BAP1 loss was noted only in SM. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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19 pages, 24881 KiB

Open AccessArticle

Prognostic Value of BRAF, Programmed Cell Death 1 (PD1), and PD Ligand 1 (PDL1) Protein Expression in Colon Adenocarcinoma

by Afaf T. Ibrahiem, Entsar Eladl, Eman A. Toraih, Manal S. Fawzy, Khaled Abdelwahab, Khaled Elnaghi, Ziad Emarah, Aly A. M. Shaalan, Ziad Ehab and Nahed A. Soliman

Diagnostics 2023, 13(2), 237; https://doi.org/10.3390/diagnostics13020237 - 09 Jan 2023

Cited by 1 | Viewed by 1669

Abstract

Patients with colorectal cancer in different stages show variable outcomes/therapeutic responses due to their distinct tumoral biomarkers and biological features. In this sense, this study aimed to explore the prognostic utility of BRAF, programmed death-1 (PD1), and its ligand (PDL1) protein signatures in [...] Read more.

Patients with colorectal cancer in different stages show variable outcomes/therapeutic responses due to their distinct tumoral biomarkers and biological features. In this sense, this study aimed to explore the prognostic utility of BRAF, programmed death-1 (PD1), and its ligand (PDL1) protein signatures in colon adenocarcinoma. The selected protein markers were explored in 64 archived primary colon adenocarcinomas in relation to clinicopathological features. BRAF overexpression was found in 39% of the cases and was significantly associated with grade 3, N1, advanced Dukes stage, presence of relapse, and shorter overall survival (OS). PD1 expression in the infiltrating immune cells (IICs) exhibited significant association with T2/T3, N0/M0, early Dukes stage, and absence of relapse. PDL1 expression in IICs is significantly associated with advanced nodal stage/distant metastasis, advanced Dukes stage, and shorter OS. Meanwhile, PDL1 expression in neoplastic cells (NC) was associated with the advanced lymph node/Dukes stage. A positive combined expression pattern of PDL1 in NC/IICs was associated with poor prognostic indices. Tumor PDL1 expression can be an independent predictor of OS and DFS. The multivariate analyses revealed that short OS was independently associated with the RT side location of the tumor, PD1 expression in stromal IICs, and PDL1 expression in NC. In conclusion, overexpression of BRAF in colon adenocarcinoma is considered a poor prognostic pathological marker. In addition, PDL1 expression in NC is considered an independent prognostic factor for DFS/OS. Combined immunohistochemical assessment for BRAF and PD1/PDL1 protein expressions in colon adenocarcinoma might be beneficial for selecting patients for future targeted therapy. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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13 pages, 1198 KiB

Open AccessArticle

Prognostic Value of Bladder Involvement in the Outcome of Upper Tract Urothelial Carcinoma

by Sara Meireles, Nuno Dias, Diana Martins, Carolina Dias, Marina Gonçalves, João Silva, Carlos Martins Silva, Paulo Dinis Oliveira, Paula Soares and José Manuel Lopes

Diagnostics 2023, 13(1), 153; https://doi.org/10.3390/diagnostics13010153 - 02 Jan 2023

Cited by 2 | Viewed by 1668

Abstract

Accurately predicting the clinical prognosis of upper tract urothelial carcinoma (UTUC) seems crucial. We evaluated the effect of the involvement of urothelial bladder carcinoma (UBC) as a potential prognostic factor for overall survival (OS) and progression-free survival (PFS). The cohort included 115 patients [...] Read more.

Accurately predicting the clinical prognosis of upper tract urothelial carcinoma (UTUC) seems crucial. We evaluated the effect of the involvement of urothelial bladder carcinoma (UBC) as a potential prognostic factor for overall survival (OS) and progression-free survival (PFS). The cohort included 115 patients with UTUC, subgrouped between January 2009 and December 2019 as follows: (1) only UTUC and (2) UTUC with synchronous or metachronous UBC (UTUC + UBC). Univariate and multivariate analyses were performed to identify independent prognostic factors for OS and PFS. Synchronous or metachronous UBC diagnosis in UTUC patients was an independent predictor of worse PFS (HR 3.326 CI 95% 1.474–7.503, p = 0.004), but it was not identified as a prognostic factor for OS (p > 0.05). Lymphovascular invasion (LVI) was associated with decreased PFS (HR 2.687 CI 95%1.172–6.163, p = 0.020) and OS (HR 4.980 CI 95%1.763–14.064, p = 0.002). This study indicates that concomitant or later UBC could predict a poor PFS, but it is not associated with a significantly worse OS in UTUC patients. The prognostic impact of LVI underlines its inclusion in the tumor staging system of UTUC. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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13 pages, 2178 KiB

Open AccessArticle

Upfront Screening by Quantitative Real-Time PCR Assay Identifies NUP98::NSD1 Fusion Transcript in Indian AML Patients

by Arunim Shah, Akhilesh Sharma, Shobhita Katiyar, Anshul Gupta and Chandra Prakash Chaturvedi

Diagnostics 2022, 12(12), 3001; https://doi.org/10.3390/diagnostics12123001 - 01 Dec 2022

Cited by 1 | Viewed by 1717

Abstract

NUP98::NSD1 fusion, a cryptic translocation of t(5;11)(q35;p15.5), occurs predominantly in pediatric AML, having a poor prognostic outcome. There are limited studies on the diagnosis of NUP98::NSD1 fusion in a clinical setting, and most of the data are from Western countries. No study on [...] Read more.

NUP98::NSD1 fusion, a cryptic translocation of t(5;11)(q35;p15.5), occurs predominantly in pediatric AML, having a poor prognostic outcome. There are limited studies on the diagnosis of NUP98::NSD1 fusion in a clinical setting, and most of the data are from Western countries. No study on the detection of this translocation has been reported from the Indian subcontinent to date. One possible reason could be the lack of availability of a potential tool to detect the fusion transcript. We have developed a real-time quantitative PCR (qRT-PCR)-based assay to detect NUP98::NSD1 fusion transcript with high sensitivity and specificity. Screening 150 AML patients (38 pediatric and 112 adults) using the assay showed the presence of fusion transcript in six patients including 03 pediatric, and 03 adult patients. We observed a prevalence rate of 7.89% (3/38) and 2.67% (3/112) fusion transcript in pediatric and adult patients, respectively. Sanger sequencing further validated the occurrence of NUP98::NSD1 fusion in all six patients. Molecular characterization of these patients revealed a co-occurrence of FLT3-ITD mutation, accompanied by altered expression of the HOX and other genes associated with AML. All six patients responded poorly to induction therapy. Overall, this is the first study to show the presence of the NUP98::NSD1 fusion transcript in Indian AML patients. Further, we demonstrate that our in-house developed qRT-PCR assay can be used to screen NUP98::NSD1 fusion in clinical settings. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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15 pages, 5516 KiB

Open AccessArticle

Association of the Timeless Gene with Prognosis and Clinical Characteristics of Human Lung Cancer

by Jishi Ye, Jingli Chen, Juan Wang, Zhongyuan Xia and Yifan Jia

Diagnostics 2022, 12(11), 2681; https://doi.org/10.3390/diagnostics12112681 - 03 Nov 2022

Cited by 4 | Viewed by 1488

Abstract

(1) Background: As the most common malignant tumor type worldwide, it is necessary to identify novel potential prognostic biomarkers to improve the poor prognosis of lung cancer. The Timeless gene, a circadian rhythm-related gene, is associated with several types of cancer. However, studies [...] Read more.

(1) Background: As the most common malignant tumor type worldwide, it is necessary to identify novel potential prognostic biomarkers to improve the poor prognosis of lung cancer. The Timeless gene, a circadian rhythm-related gene, is associated with several types of cancer. However, studies analyzing the clinical significance of the Timeless gene in patients with lung cancer are currently limited. (2) Methods: In the present study, the expression levels and prognostic potential of the Timeless gene and its co-expressed genes in different subtypes of lung cancer were explored using multiple bioinformatics approaches. The correlations between the Timeless gene and its co-expressed genes were validated using A549 and NCI-H226 cells by transfecting them with expression vectors and analyses using Western blot and reverse transcription-quantitative PCR. (3) Results: The Oncomine and GEPIA database analyses indicated that the expression of the Timeless gene was significantly higher in lung cancer as compared to that in the normal tissue. Using the UALCAN database, significant differences in Timeless gene expression were determined among different stages of lung cancer and between genders. A Kaplan–Meier plotter analysis indicated that high expression of the Timeless gene was associated with poor overall survival (OS) and progression-free survival (PFS) of patients with lung cancer. In the cBioPortal and GEPIA database analyses, extra spindle pole bodies like 1 (ESPL1) was the top correlated gene of Timeless in patients with lung cancer. Similar to the Timeless gene, high expression of the ESPL1 gene was also associated with poor OS and PFS. Of note, overexpression of the Timeless gene increased the expression level of ESPL1 at both the mRNA and protein levels. (4) Conclusion: The present study explored the clinical significance of the Timeless gene and its correlated gene ESPL1 in patients with lung cancer, thereby providing a potential therapeutic target for lung cancer. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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9 pages, 1177 KiB

Open AccessArticle

CD47 Expression Predicts Unfavorable Prognosis in Clear Cell Renal Cell Carcinoma after Curative Resection

by Hosub Park, Seungyun Jee, Seongsik Bang, Hwangkyu Son, Hyebin Cha, Jaekyung Myung, Jongmin Sim, Yeseul Kim, Seungsam Paik and Hyunsung Kim

Diagnostics 2022, 12(10), 2291; https://doi.org/10.3390/diagnostics12102291 - 22 Sep 2022

Cited by 3 | Viewed by 1478

Abstract

The role of CD47 expression as a ‘do not eat me’ signal that inhibits phagocytosis of tumor cells by macrophages is well established. Immune checkpoint therapy that targets CD47 has been successful in preclinical trials and is currently undergoing clinical investigation for various [...] Read more.

The role of CD47 expression as a ‘do not eat me’ signal that inhibits phagocytosis of tumor cells by macrophages is well established. Immune checkpoint therapy that targets CD47 has been successful in preclinical trials and is currently undergoing clinical investigation for various human malignancies. Here, the clinicopathological correlation with CD47 expression in clear cell renal cell carcinoma (ccRCC) was explored. CD47 expression was evaluated by immunohistochemical staining in tissue microarray sections of 235 ccRCC tissues. CD47 expression was observed in 28 (11.9%) of 235 ccRCC tissues and was significantly associated with higher WHO/ISUP grade (p = 0.001), frequent lymphovascular invasion (p = 0.036), frequent renal vein thrombus (p = 0.018), frequent sinus fat invasion (p = 0.004), frequent sarcomatous change (p = 0.001), higher pT stage (p = 0.002), higher pN stage (p = 0.002), higher pM stage (p < 0.001), and advanced American Joint Committee on Cancer stage (p = 0.002). In the survival analyses, positive CD47 expression was associated with cancer-specific survival (p = 0.003). However, positive CD47 expression was not associated with recurrence-free survival. In conclusion, CD47 expression was associated with adverse clinicopathological parameters and cancer-specific survival in patients with ccRCC. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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11 pages, 4999 KiB

Open AccessArticle

Atypical Sites of the Lipoma on the Hand and Fingers: Clinical and Imaging Features and Surgical Outcomes

by Mihaela Pertea, Sorinel Lunca, Alexandru Filip, Dan Cristian Moraru, Claudiu Carp, Roxana Pinzaru, Vladimir Poroch and Bogdan Veliceasa

Diagnostics 2022, 12(10), 2286; https://doi.org/10.3390/diagnostics12102286 - 22 Sep 2022

Cited by 3 | Viewed by 8444

Abstract

Background: Lipomas are the most frequent benign soft tissue tumor that are rarely found in the hand and are exceptionally rare on the fingers. The aim of this study was to investigate lipomas of atypical locations, so that they can be taken into [...] Read more.

Background: Lipomas are the most frequent benign soft tissue tumor that are rarely found in the hand and are exceptionally rare on the fingers. The aim of this study was to investigate lipomas of atypical locations, so that they can be taken into account when making a differential diagnosis of a tumor of the hand or fingers. Methods: We studied a group of 27 patients diagnosed with lipoma of the wrist, palm, and fingers. The diagnosis was made by clinical and imaging examinations. Surgical treatment was established based on symptoms of pain, paresthesias, functional impairment, or aesthetic concerns. Treatment outcomes were assessed clinically at 1.5 years post-intervention. Results: Sizes over 5 cm were recorded in five cases, with the largest lipoma being 8 by 5 by 3.5 cm in size and weighing 125 g, located in the palm. There was one case of spontaneous tendon rupture and one case of carpal tunnel syndrome. There was no recurrence recorded at 1.5-year follow-up. Conclusions: Lipomas in the palm and fingers are rare entities (with more men affected), and surgical treatment consists of complete removal of the tumor and providing definitive healing. Despite their rarity, clinicians should consider lipomas when making differential diagnoses of soft tissue tumors of the hand. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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8 pages, 2209 KiB

Open AccessArticle

PRAME Immunoexpression in 275 Cutaneous Melanocytic Lesions: A Double Institutional Experience

by Gerardo Cazzato, Eliano Cascardi, Anna Colagrande, Vincenzo Belsito, Lucia Lospalluti, Caterina Foti, Francesca Arezzo, Miriam Dellino, Nadia Casatta, Carmelo Lupo, Luigi Buongiorno, Alessandra Stellacci, Maricla Marrone, Giuseppe Ingravallo, Eugenio Maiorano and Leonardo Resta

Diagnostics 2022, 12(9), 2197; https://doi.org/10.3390/diagnostics12092197 - 09 Sep 2022

Cited by 21 | Viewed by 2258

Abstract

In recent years, the preferentially expressed antigen in melanoma (PRAME) has also been used in the histopathological diagnosis of melanocytic lesions, in order to understand if it could constitute a valid, inexpensive, and useful resource in dermatopathological fields. We performed a double-center study [...] Read more.

In recent years, the preferentially expressed antigen in melanoma (PRAME) has also been used in the histopathological diagnosis of melanocytic lesions, in order to understand if it could constitute a valid, inexpensive, and useful resource in dermatopathological fields. We performed a double-center study to evaluate whether the data on the usefulness and possible limitations of PRAME could also be confirmed by our group. From 1 December 2021 to 29 March 2022, we collected 275 cases of melanocytic lesions that were immunostained with PRAME (Ab219650) and rabbit monoclonal antibody (Abcam). To better correlate the PRAME expression with its nature (benign, uncertain potential for malignancy, or malignant), we categorized PRAME tumor cells’ percentage positivity and intensity of immunostaining in a cumulative score obtained by adding the quartile of positive tumor cells (0, 1+, 2+, 3+, 4+) to the PRAME expression intensity in tumor cells (0, 1+, 2+, 3+). Of these 275 lesions, 136 were benign, 12 were of uncertain potential for malignancy (MELTUMP or SAMPUS or SPARK nevus), and 127 were malignant. The immunoexpression of PRAME was completely negative in 125/136 benign lesions (91.9%), with only a few positive melanocytes (1+) and intensity 1+ in the remaining 11 cases (8.1%). Of the 127 cases of melanoma (superficial spreading, lentigo maligna, and pagetoid histotypes), PRAME was strongly positive in 104/127 cases (81.8%) with intensity 4+ and 3+. In 17 cases (13.3%; melanoma spindle and nevoid cell histotypes), PRAME was positive in percentage 2+ and with intensity ranging from 2+ to 3+. In 7 cases (5.5%) of desmoplastic melanoma, PRAME was 1+ positive and/or completely negative. Of the 12 cases of lesions with uncertain potential for malignancy, the immunoexpression of PRAME was much more heterogeneous and irregularly distributed throughout the lesion. These data are perfectly in agreement with the current literature, and they demonstrate that the reliability of PRAME is quite high, but its use cannot cause physicians to disregard the morphological information and the execution of other ancillary immunohistochemical stains such as Melan-A, HMB-45, MiTF, and SOX-10. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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9 pages, 2749 KiB

Open AccessArticle

CD47 Expression in Non-Melanoma Skin Cancers and Its Clinicopathological Implications

by Seongsik Bang, Seungyun Jee, Hwangkyu Son, Hyebin Cha, Hosub Park, Jaekyung Myung, Joo Yeon Ko, Hyunsung Kim and Seungsam Paik

Diagnostics 2022, 12(8), 1859; https://doi.org/10.3390/diagnostics12081859 - 31 Jul 2022

Cited by 1 | Viewed by 1456

Abstract

CD47 is a cell surface molecule and regulates diverse cellular responses. CD47 is highly expressed in cancer cells and has potential as a therapeutic target and prognostic factor in cancer patients. The expression patterns of CD47 in basal cell carcinoma (BCC), squamous cell [...] Read more.

CD47 is a cell surface molecule and regulates diverse cellular responses. CD47 is highly expressed in cancer cells and has potential as a therapeutic target and prognostic factor in cancer patients. The expression patterns of CD47 in basal cell carcinoma (BCC), squamous cell carcinoma (SCC) and its precursor lesions, and its clinicopathological significance were investigated. CD47 expression was evaluated by immunohistochemistry in 152 cases of BCC and 71 cases of SCC. For comparison of CD47 expression, actinic keratosis (AK), squamous cell carcinoma in situ (SCCIS), keratoacanthoma (KA), and normal skin (NS) tissue were used. CD47 expression in BCC was significantly lower than that of SCC (p < 0.001). CD47 expression levels in SCC and KA were significantly higher than those of NS and AK (p < 0.05). High CD47 expression was significantly associated with the presence of ulceration (p = 0.005) and a deeper level of invasion (p = 0.011) in BCC. In addition, high CD47 expression was significantly associated with the presence of ulceration (p = 0.019) and larger tumor size (p = 0.004) in SCC. CD47 expression was associated with tumorigenesis and tumor progression in non-melanoma skin cancers. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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12 pages, 1881 KiB

Open AccessArticle

LymphoTrack Is Equally Sensitive as PCR GeneScan and Sanger Sequencing for Detection of Clonal Rearrangements in ALL Patients

by Karin Paulsen, Millaray Marincevic, Lucia Cavelier, Peter Hollander and Rose-Marie Amini

Diagnostics 2022, 12(6), 1389; https://doi.org/10.3390/diagnostics12061389 - 04 Jun 2022

Cited by 4 | Viewed by 2033

Abstract

Monoclonal rearrangements of immunoglobulin (Ig) genes and T-cell receptor (TCR) genes are used for minimal measurable disease in acute lymphoblastic leukemia (ALL). The golden standard for screening of gene rearrangements in ALL has been PCR GeneScan and Sanger sequencing, which are laborsome and [...] Read more.

Monoclonal rearrangements of immunoglobulin (Ig) genes and T-cell receptor (TCR) genes are used for minimal measurable disease in acute lymphoblastic leukemia (ALL). The golden standard for screening of gene rearrangements in ALL has been PCR GeneScan and Sanger sequencing, which are laborsome and time-consuming methods. More rapid next-generation sequencing methods, such as LymphoTrack could possibly replace PCR GeneScan and Sanger sequencing for clonality assessment. Our aim was to evaluate to what extent LymphoTrack can replace PCR GeneScan and Sanger sequencing concerning sensitivity and quantifiability in clonality assessment in 78 ALL samples. With LymphoTrack, clonality assessment was based on the %Total reads, where ≥10% was used as cut off for clonal rearrangements. The patients displayed 0 to 4 clonal rearrangements per assay. The detection rate (rearrangements detected with PCR GeneScan and/or Sanger sequencing, also detected with LymphoTrack) was 85/85 (100%) for IGH, 64/67 (96%) for IGK, 91/93 (98%) for TCRG and 34/35 (97%) for TCRB. Our findings demonstrate that LymphoTrack was equally sensitive in detecting clonal rearrangements as PCR GeneScan and Sanger Sequencing. The LymphoTrack assay is reliable and therefore applicable for clonal assessment in ALL patients in clinical laboratories. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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11 pages, 4542 KiB

Open AccessArticle

Schwannoma of the Upper Limb: Retrospective Study of a Rare Tumor with Uncommon Locations

by Mihaela Pertea, Alexandru Filip, Bogdan Huzum, Sorinel Lunca, Claudiu Carp, Mihaela Mitrea, Paula Toader, Stefana Luca, Dan Cristian Moraru, Vladimir Poroch and Bogdan Veliceasa

Diagnostics 2022, 12(6), 1319; https://doi.org/10.3390/diagnostics12061319 - 26 May 2022

Cited by 3 | Viewed by 3862

Abstract

Background: Although schwannoma (neurilemmoma) is the most common tumor of the peripheral nerve, its low incidence, slow growth and vague symptoms often lead to misdiagnosis or delayed diagnosis. The aim of the study is to present a series with a large number of [...] Read more.

Background: Although schwannoma (neurilemmoma) is the most common tumor of the peripheral nerve, its low incidence, slow growth and vague symptoms often lead to misdiagnosis or delayed diagnosis. The aim of the study is to present a series with a large number of schwannomas in the upper limbs, some with very rare occurrence. Methods: We report 17 patients with a mean age of 58.5 years and upper limb schwannomas, located on the median, ulnar and radial nerves, but also on the posterior interosseous nerve and digital collateral nerves. The diagnosis was made by clinical examination and imaging tests, and in no case was a preoperative biopsy performed. Surgical treatment was established based on symptoms or aesthetic concerns. In all cases, a diagnosis of schwannoma was confirmed through histopathological and immunohistochemical examinations. Results: For all patients, a complete tumor enucleation was performed under a surgical microscope. No recurrence was recorded at 2 years after surgery. Patient satisfaction was good, with complete socio-professional integration in all cases. Conclusions: Although more frequently present on the main nerve trunks, schwannoma may be present on the collateral digital nerves in rare cases. A correct technique with complete tumor excision offers excellent postoperative outcomes and avoids recurrences. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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11 pages, 1381 KiB

Open AccessArticle

SERPINE2 Overexpression Is Associated with Poor Prognosis of Urothelial Carcinoma

by Hao-Wen Chuang, Kan-Tai Hsia, Jia-Bin Liao, Chih-Ching Yeh, Wei-Ting Kuo and Yi-Fang Yang

Diagnostics 2021, 11(10), 1928; https://doi.org/10.3390/diagnostics11101928 - 18 Oct 2021

Cited by 10 | Viewed by 1812

Abstract

Recent studies have reported that SERPINE2 contributes to the development of various cancers. However, its association with urothelial carcinoma (UC) remains unclear. In this study, data on urinary bladder UC (UBUC) cases from The Cancer Genome Atlas (TCGA) database were used to investigate [...] Read more.

Recent studies have reported that SERPINE2 contributes to the development of various cancers. However, its association with urothelial carcinoma (UC) remains unclear. In this study, data on urinary bladder UC (UBUC) cases from The Cancer Genome Atlas (TCGA) database were used to investigate the prognostic value of SERPINE2 mRNA expression. Then, SERPINE2 expression was analyzed with tissue microarrays constructed from 117 upper tract UC (UTUC) and 84 UBUC tissue specimens using immunohistochemical staining. Results were compared to clinicopathologic data by multivariate analysis. In the TCGA database, high SERPINE2 mRNA expression indicated a poor prognosis in patients with UBUC. Furthermore, Mann–Whitney U test showed that high SERPINE2 immunoexpression was significantly associated with adverse pathologic parameters including invasion, high grade, coexistence of UC in situ, and advanced pT stage (all p < 0.05, except for a marginal association with high-grade UBUC, p = 0.066). Kaplan–Meier analysis revealed that high SERPINE2 expression was associated with worse overall survival (OS; UTUC, p = 0.003; UBUC, p = 0.014) and disease-free survival (UTUC, p = 0.031; UBUC, p = 0.033). Moreover, multivariate analysis identified high SERPINE2 expression as an independent prognostic factor for OS (UTUC, p = 0.002; UBUC, p = 0.024). Taken together, our findings demonstrated that increased SERPINE2 expression is associated with adverse pathologic features and may serve as a prognostic biomarker for UC. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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Review

Jump to: Research, Other

29 pages, 6524 KiB

Open AccessReview

Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology

by Yuh Cai Chia, Mat Jusoh Siti Asmaa, Marini Ramli, Peng Yeong Woon, Muhammad Farid Johan, Rosline Hassan and Md Asiful Islam

Diagnostics 2023, 13(1), 163; https://doi.org/10.3390/diagnostics13010163 - 03 Jan 2023

Cited by 4 | Viewed by 2347

Abstract

Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of [...] Read more.

Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1, and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa, and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE, and TLR4 genes may also play a role in MPN manifestation. This review aims to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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9 pages, 258 KiB

Open AccessReview

Detection of Urinary Molecular Marker Test in Urothelial Cell Carcinoma: A Review of Methods and Accuracy

by Catalin Bulai, Petrisor Geavlete, Cosmin-Victor Ene, Isabela Bulai, Razvan-Ionut Popescu, Cristian Mares, Corina Daniela Ene, Ana-Maria Punga and Bogdan Geavlete

Diagnostics 2022, 12(11), 2696; https://doi.org/10.3390/diagnostics12112696 - 04 Nov 2022

Cited by 4 | Viewed by 1796

Abstract

Early detection of bladder cancer has a positive impact on prognosis. A variety of biomarkers have been developed to detect bladder tumors in urine early and reduce the need for cystoscopy. To detect bladder cancer, several methods are available, but their accuracy varies [...] Read more.

Early detection of bladder cancer has a positive impact on prognosis. A variety of biomarkers have been developed to detect bladder tumors in urine early and reduce the need for cystoscopy. To detect bladder cancer, several methods are available, but their accuracy varies according to the sensitivity and specificity of each method. This review aims to highlight the established detection methods for bladder cancer based on the available literature. In addition, we aim to identify the combination of different effective detection methods that provides the highest degree of accuracy. In our study, a keyword retrieval method was used to search for appropriate English-language references. This bibliography has been indexed in PubMed and Scopus or has been found through systematic searches from 2015 to 2022. Based on an analysis of international guidelines, it has been revealed that there are numerous discrepancies and unresolved issues. The discovery of an ideal detection method for urothelial cell carcinoma biomarkers has been the subject of numerous efforts. In recent years, a wide range of off-label, experimental, novel, and combined approaches have been published on this topic. This review can contribute to the identification of accurate methods of detecting bladder cancer and highlight areas for future research that can be improved. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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Open AccessReview

Practical Approach to Histological Diagnosis of Peripheral Nerve Sheath Tumors: An Update

by Gaetano Magro, Giuseppe Broggi, Giuseppe Angelico, Lidia Puzzo, Giada Maria Vecchio, Valentina Virzì, Lucia Salvatorelli and Martino Ruggieri

Diagnostics 2022, 12(6), 1463; https://doi.org/10.3390/diagnostics12061463 - 14 Jun 2022

Cited by 20 | Viewed by 8467

Abstract

Peripheral nerve sheath tumors encompass a wide spectrum of lesions with different biological behavior, including both benign and malignant neoplasms as well as the recent diagnostic category, i.e., “atypical neurofibromatous neoplasm with uncertain biologic potential” to be used only for NF1 [...] Read more.

Peripheral nerve sheath tumors encompass a wide spectrum of lesions with different biological behavior, including both benign and malignant neoplasms as well as the recent diagnostic category, i.e., “atypical neurofibromatous neoplasm with uncertain biologic potential” to be used only for NF1 patients. Neurofibromas and schwannomas are benign Schwann-cell-derived peripheral nerve sheath tumors arising as isolated lesions or within the context of classical neurofibromatosis or schwannomatoses. Multiple tumors are a hallmark of neurofibromatosis type 1(NF1) and related forms, NF2-related-schwannomatosis (formerly NF2) or SMARCB1/LZTR1-related schwannomatoses. Perineuriomas are benign, mostly sporadic, peripheral nerve sheath tumors that show morphological, immunohistochemical, and ultrastructural features reminiscent of perineurial differentiation. Hybrid tumors exist, with the most common lesions represented by a variable mixture of neurofibromas, schwannomas, and perineuriomas. Conversely, malignant peripheral nerve sheath tumors are soft tissue sarcomas that may arise from a peripheral nerve or a pre-existing neurofibroma, and in about 50% of cases, these tumors are associated with NF1. The present review emphasizes the main clinicopathologic features of each pathological entity, focusing on the diagnostic clues and unusual morphological variants. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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4 pages, 1926 KiB

Open AccessInteresting Images

Angiomatoid Fibrous Histiocytoma (AFH) of the Right Arm: An Exceptional Case with Pulmonary Metastasis and Confirmatory EWSR1::CREB1 Translocation

by Gerardo Cazzato, Carmelo Lupo, Nadia Casatta, Flavia Riefoli, Andrea Marzullo, Anna Colagrande, Eliano Cascardi, Senia Maria Rosaria Trabucco, Giuseppe Ingravallo, Biagio Moretti, Eugenio Maiorano, Vito Pesce and Leonardo Resta

Diagnostics 2022, 12(11), 2616; https://doi.org/10.3390/diagnostics12112616 - 28 Oct 2022

Cited by 3 | Viewed by 1613

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm described for the first time by Enzinger in 1979, and classified by World Health Organization 2020 as intermediate malignant potential neoplasm. It mostly occurs in the subcutis and is characterized by varying proportions of epithelioid, [...] Read more.

Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm described for the first time by Enzinger in 1979, and classified by World Health Organization 2020 as intermediate malignant potential neoplasm. It mostly occurs in the subcutis and is characterized by varying proportions of epithelioid, ovoid and spindle cells in a nodular and syncytial growth pattern, with some hemorrhagic pseudovascular spaces. In this paper, we report the clinical case of a 62-year-old man who presented with AFH on the right arm, and relapsed three years after first surgical excision. After a further three years, the patient presented with an intramuscular localization of AFH, and 12 months after this, a pulmonary metastasis of AFH was diagnosed. Given the rarity of the spreading of AFH, we performed Fluorescence In Situ Hybridization (FISH) and we detected EWSR1::CREB1 gene fusion. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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12 pages, 4730 KiB

Open AccessCase Report

Characteristic of Concurrent Uterine Lipoleiomyoma and Hemangioma by Algorithm of Candidate Biomarkers for Uterine Mesenchymal Tumor

by Shoko Nishikawa, Takuma Hayashi, Yasuaki Amano, Nobuo Yaegashi, Kaoru Abiko and Ikuo Konishi

Diagnostics 2022, 12(10), 2468; https://doi.org/10.3390/diagnostics12102468 - 12 Oct 2022

Cited by 3 | Viewed by 1850

Abstract

(1) Background/Aim: In clinical practice, uterine lipoleiomyomas are variants of uterine leiomyomas that are often found incidentally and do not require surgical treatment unless the patient is symptomatic. Therefore, these should be clinically differentiated from lesions that need surgical treatment. Conversely, hemangiomas, or [...] Read more.

(1) Background/Aim: In clinical practice, uterine lipoleiomyomas are variants of uterine leiomyomas that are often found incidentally and do not require surgical treatment unless the patient is symptomatic. Therefore, these should be clinically differentiated from lesions that need surgical treatment. Conversely, hemangiomas, or blood vessel benign tumors, rarely develop in the uterus; however, many clinical complications such as abdominal pain and excessive vaginal bleeding result from a uterine hemangioma. Hemangiomas can occur at any age and primarily affect pregnant women. (2) Materials and Methods: The oncological properties of uterine lipoleiomyoma and hemangioma in adults were investigated using molecular pathological examination on tissue excised from patients with a uterine tumor. (3) Results: Through molecular pathological studies, which included potential biomarkers for uterine mesenchymal tumors, a differential diagnosis was established for a case of mesenchymal tumor. Herein, we report a 54-year-old non-pregnant woman who presented with vaginal bleeding and underwent hysterectomy after detection of a 140 × 100 mm intramural mass diagnosed as a concurrent uterine hemangioma and lipoleiomyoma after molecular histopathologic examinations. (4) Conclusion: As far as we know, our case is the first patient of concurrent uterine hemangioma and lipoleiomyoma. Hence, the possibility of several types of mesenchymal tumors must be considered in the differential diagnosis of patients with abnormal vaginal bleeding. As such, molecular pathological examination and close monitoring of the MRI results should be conducted by medical staff while considering the patient’s desire for pregnancy, including surgical treatment options for uterine hemangioma. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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7 pages, 1346 KiB

Open AccessCase Report

Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma

by Octavia Oana Harich, Gheorghe-Emilian Olteanu, Ioana Maria Mihai, Marius Benta, Gavriliuc Oana Isabella, Paunescu Virgil and Florina Maria Bojin

Diagnostics 2022, 12(8), 1904; https://doi.org/10.3390/diagnostics12081904 - 06 Aug 2022

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Abstract

Papillary renal cell carcinoma (PRCC) is defined by the WHO 2022 classification as a malignant tumor derived from the renal tubular epithelium. However, the WHO 2016 classification subdivided PRCC into two types, with type 1 PRCC showing papillae covered by a single layer [...] Read more.

Papillary renal cell carcinoma (PRCC) is defined by the WHO 2022 classification as a malignant tumor derived from the renal tubular epithelium. However, the WHO 2016 classification subdivided PRCC into two types, with type 1 PRCC showing papillae covered by a single layer of neoplastic cells, and type II PRCC, which can show multiple types of histologies and is more aggressive. The WHO 2022 classification eliminated the subcategorization of PRCC. Here, we present a histopathological case study with a 4-year follow-up diagnosed in 2018 as type I PRCC (WHO 2016) with intra-pyelocalyceal growth pattern in a 59-year-old male patient with a history of Type II diabetes mellitus, left-sided renal–ureteral lithiasis, and benign hypertrophy of the prostate. Microscopically the tumor was composed of small cuboidal cells with inconspicuous nucleoli, arranged on a single layer of tubulo-papillary cores, and scant, foamy macrophages. The tumor had a non-infiltrative, expansive pyelocalyceal growth pattern. Immunohistochemically (IHC), the tumor cells were CK7-intense and diffusely positive, and stained granular for AMACR. Next-generation sequencing (NGS) was performed for the tumor and the normal adjacent tissue for in-depth pathological characterization. To our knowledge, this is the first reported case where a PRCC displays this unique intra-pyelocalyceal growth pattern, mimicking a urothelial cell carcinoma of the renal pelvis system. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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