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Clinical and Molecular Diagnosis of Hematologic Malignancies
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Clinical and Molecular Diagnosis of Hematologic Malignancies

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (10 June 2023) | Viewed by 8679

Special Issue Editor

Prof. Dr. Peng Liu

E-Mail Website
Guest Editor
Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China
Interests: mechanism studies; translational studies; clinical studies of hematolymphoid tumors including multiple myeloma, lymphoma, and leukemia.

Special Issue Information

Dear Colleagues,

In recent decades, rapid progress in biotechnology and the increasing application of multi-omics studies has largely deepened our knowledge of biological features of hematolymphoid neoplasms. As this great amount of new evidence has been translated into high-throughput molecular diagnostic tools, the diagnostic pattern of hematological malignancies has been profoundly re-shaped, with a deliberate attempt made to prioritize classifying tumor types based on defining genetic abnormalities according to the latest 2022 WHO classification of hematolymphoid tumors. Meanwhile, personalized, targeted treatment based on molecular diagnosis has greatly improved the outcomes of patients with hematolymphoid tumors. In the era of precision medicine, embedding novel molecular findings and multi-omics notions into clinical management is the new goal. This Special Issue aims at providing new insights about the updates in the molecular diagnosis and clinical management of hematolymphoid tumors.

Prof. Dr. Peng Liu
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hematolymphoid tumors
  • genetic alterations
  • lymphoma
  • leukemia
  • myeloma
  • precision medicine

Published Papers (6 papers)

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Research

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14 pages, 4380 KiB  
Article
A Comprehensive Analysis of the Expression Profiles of KCTD Proteins in Acute Lymphoblastic Leukemia: Evidence of Selective Expression of KCTD1 in T-ALL
by Lorena Buono, Concetta Iside, Giovanni Pecoraro, Antonia De Matteo, Giuliana Beneduce, Roberta Penta de Vera d’Aragona, Rosanna Parasole, Peppino Mirabelli, Luigi Vitagliano, Marco Salvatore and Giovanni Smaldone
J. Clin. Med. 2023, 12(11), 3669; https://doi.org/10.3390/jcm12113669 - 25 May 2023
Cited by 1 | Viewed by 999
Abstract
Acute leukemia is the most common pediatric cancer. In most cases, this disease results from the malignant transformation of either the B-cell (B-ALL) or, less frequently, T-cell progenitors (T-ALL). Recently, a marked overexpression of KCTD15, a member of the emerging class of the [...] Read more.
Acute leukemia is the most common pediatric cancer. In most cases, this disease results from the malignant transformation of either the B-cell (B-ALL) or, less frequently, T-cell progenitors (T-ALL). Recently, a marked overexpression of KCTD15, a member of the emerging class of the potassium (K) channel tetramerization domain-containing proteins (KCTDs) has been detected in both patients and continuous cell lines as in vitro model systems. Because there is growing evidence of the key, yet diversified, roles played by KCTDs in cancers, we here report an exhaustive analysis of their expression profiles in both B-ALL and T-ALL patients. Although for most KCTDs, no significant alterations were found in these pathological states, for some members of the family, significant up- and down-regulations were detected in comparison with the values found in healthy subjects in the transcriptome analysis. Among these, particularly relevant is the upregulation of the closely related KCTD1 and KCTD15 in T-ALL patients. Interestingly, KCTD1 is barely expressed in both unaffected controls and B-ALL patients. Therefore, not only does this analysis represent the first study in which the dysregulation of all KCTDs is simultaneously evaluated in specific pathological contexts, but it also provides a promising T-ALL biomarker that could be suitable for clinical applications. Full article
(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)
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14 pages, 2029 KiB  
Article
Machine Learning Model Based on Optimized Radiomics Feature from 18F-FDG-PET/CT and Clinical Characteristics Predicts Prognosis of Multiple Myeloma: A Preliminary Study
by Beiwen Ni, Gan Huang, Honghui Huang, Ting Wang, Xiaofeng Han, Lijing Shen, Yumei Chen and Jian Hou
J. Clin. Med. 2023, 12(6), 2280; https://doi.org/10.3390/jcm12062280 - 15 Mar 2023
Cited by 5 | Viewed by 1243
Abstract
Objects: To evaluate the prognostic value of radiomics features extracted from 18F-FDG-PET/CT images and integrated with clinical characteristics and conventional PET/CT metrics in newly diagnosed multiple myeloma (NDMM) patients. Methods: We retrospectively reviewed baseline clinical information and 18F-FDG-PET/CT imaging data of [...] Read more.
Objects: To evaluate the prognostic value of radiomics features extracted from 18F-FDG-PET/CT images and integrated with clinical characteristics and conventional PET/CT metrics in newly diagnosed multiple myeloma (NDMM) patients. Methods: We retrospectively reviewed baseline clinical information and 18F-FDG-PET/CT imaging data of MM patients with 18F-FDG-PET/CT. Multivariate Cox regression models involving different combinations were constructed, and stepwise regression was performed: (1) radiomics features of PET/CT alone (Rad Model); (2) Using clinical data (including clinical/laboratory parameters and conventional PET/CT metrics) only (Cli Model); (3) Combination radiomics features and clinical data (Cli-Rad Model). Model performance was evaluated by C-index and Net Reclassification Index (NRI). Results: Ninety-eight patients with NDMM who underwent 18F-FDG-PET/CT between 2014 and 2019 were included in this study. Combining radiomics features from PET/CT with clinical data showed higher prognostic performance than models with radiomics features or clinical data alone (C-index 0.790 vs. 0.675 vs. 0.736 in training cohort; 0.698 vs. 0.651 vs. 0.563 in validation cohort; AUC 0.761, sensitivity 56.7%, specificity 85.7%, p < 0.05 in training cohort and AUC 0.650, sensitivity 80.0%, specificity78.6%, p < 0.05 in validation cohort) When clinical data was combined with radiomics, an increase in the performance of the model was observed (NRI > 0). Conclusions: Radiomics features extracted from the PET and CT components of baseline 18F-FDG-PET/CT images may become an effective complement to provide prognostic information; therefore, radiomics features combined with clinical characteristic may provide clinical value for MM prognosis prediction. Full article
(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)
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11 pages, 1228 KiB  
Article
The Significance of CD20 Intensity Variance in Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia
by Andreea Nicoleta Serbanica, Delia Codruta Popa, Constantin Caruntu, Sergiu Pasca, Cristian Scheau, Ionut Vlad Serbanica, Raluca Suciu, Valeria Tica, Elisa Busescu, Luminita Nicoleta Cima, Cerasela Jardan, Mihaela Dragomir, Daniel Coriu, Andrei Colita and Anca Colita
J. Clin. Med. 2023, 12(4), 1451; https://doi.org/10.3390/jcm12041451 - 11 Feb 2023
Cited by 1 | Viewed by 1710
Abstract
B-cell precursor acute lyphoblastic leukemia (ALL) is a common pediatric malignancy and patients may have significant benefits from monoclonal antibodies therapy with increased survival rates. Positive CD20 expression is identified in about half of these patients and its presence may serve as a [...] Read more.
B-cell precursor acute lyphoblastic leukemia (ALL) is a common pediatric malignancy and patients may have significant benefits from monoclonal antibodies therapy with increased survival rates. Positive CD20 expression is identified in about half of these patients and its presence may serve as a prognostic factor in disease evolution. We performed a retrospective study including 114 patients diagnosed with B-ALL and evaluated the expression of CD20 through flow cytometry at diagnosis and on day 15. Additional immunophenotypic analyses as well as cytogenetic and molecular genetic analyses were also performed. We observed an increase in the mean fluorescence intensity (MFI) of CD20 between diagnosis—1.9 (1.2–3.26) and day 15: 6.17 (2.14–27.4), (p < 0.0001). Furthermore, we assessed that both diagnosis and day 15 CD20 MFI had an impact on RFS and OS, respectively, for cut-off values of >8.08 at diagnosis and >28.65 at day 15. In conclusion, CD20 expression appears to be a poor prognostic feature of B-ALL in pediatric patients. In this study, stratification of the outcome by the intensity of CD20 has implications concerning the allocation to rituximab-based chemotherapy and may offer new, potentially useful information for pediatric patients with B-ALL. Full article
(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)
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11 pages, 2956 KiB  
Article
Spectrum of Genetic Mutations in Korean Pediatric Acute Lymphoblastic Leukemia
by Jae Won Yoo, Ari Ahn, Jong-Mi Lee, Suejung Jo, Seongkoo Kim, Jae Wook Lee, Bin Cho, Yonggoo Kim, Myungshin Kim and Nack-Gyun Chung
J. Clin. Med. 2022, 11(21), 6298; https://doi.org/10.3390/jcm11216298 - 26 Oct 2022
Cited by 3 | Viewed by 1399
Abstract
The wide application of next-generation sequencing (NGS) technologies has led to the discovery of multiple genetic alterations in pediatric acute lymphoblastic leukemia (ALL). In this work, we aimed to investigate the mutational spectrum in pediatric ALL. We employed a St. Mary’s customized NGS [...] Read more.
The wide application of next-generation sequencing (NGS) technologies has led to the discovery of multiple genetic alterations in pediatric acute lymphoblastic leukemia (ALL). In this work, we aimed to investigate the mutational spectrum in pediatric ALL. We employed a St. Mary’s customized NGS panel comprising 67 leukemia-related genes. Samples were collected from 139 pediatric ALL patients. Eighty-five patients (61.2%) harbored at least one mutation. In B-cell ALL, the RAS pathway is the most involved pathway, and the three most frequently mutated genes were NRAS (22.4%), KRAS (19.6%), and PTPN11 (8.4%). NRAS and PTPN11 were significantly associated with a high hyperdiploidy karyotype (p = 0.018 and p < 0.001, respectively). In T-cell ALL, the three most frequently mutated genes were NOTCH1 (37.5%), FBXW7 (16.6%), and PTEN (6.2%). Several pairs of co-occurring mutations were found: NRAS with SETD, NRAS with PTPN11 in B-cell ALL (p = 0.024 and p = 0.020, respectively), and NOTCH1 with FBXW7 in T-cell ALL (p < 0.001). The most frequent newly emerged mutation in relapsed ALL was NT5C2. We procured comprehensive genetic information regarding Korean pediatric ALL using NGS technology. Our findings strengthen the current knowledge of recurrent somatic mutations in pediatric ALL. Full article
(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)
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16 pages, 1722 KiB  
Article
Transcriptomic Analysis of Conserved Telomere Maintenance Component 1 (CTC1) and Its Association with Leukemia
by Saadiya Zia, Netasha Khan, Komal Tehreem, Nazia Rehman, Rokayya Sami, Roua S. Baty, Faris J. Tayeb, Majed N. Almashjary, Nouf H. Alsubhi, Ghadeer I. Alrefaei and Ramla Shahid
J. Clin. Med. 2022, 11(19), 5780; https://doi.org/10.3390/jcm11195780 - 29 Sep 2022
Cited by 1 | Viewed by 1493
Abstract
Telomere length (TEL) regulation is important for genome stability and is governed by the coordinated role of shelterin proteins, telomerase (TERT), and CST (CTC1/OBFC1/TEN1) complex. Previous studies have shown the association of telomerase expression with the risk of acute lymphoblastic leukemia (ALL). However, [...] Read more.
Telomere length (TEL) regulation is important for genome stability and is governed by the coordinated role of shelterin proteins, telomerase (TERT), and CST (CTC1/OBFC1/TEN1) complex. Previous studies have shown the association of telomerase expression with the risk of acute lymphoblastic leukemia (ALL). However, no data are available for CST association with the ALL. The current pilot study was designed to evaluate the CST expression levels in ALL. In total, 350 subjects were recruited, including 250 ALL cases and 100 controls. The subjects were stratified by age and categorized into pediatrics (1–18 years) and adults (19–54 years). TEL and expression patterns of CTC1, OBFC1, and TERT genes were determined by qPCR. The univariable logistic regression analysis was performed to determine the association of gene expression with ALL, and the results were adjusted for age and sex in multivariable analyses. Pediatric and adult cases did not reflect any change in telomere lengths relative to controls. However, expression of CTC1, OBFC1, and TERT genes were induced among ALL cases. Multivariable logistic regression analyses showed association of CTC1 with ALL in pediatric [β estimate (standard error (SE)= −0.013 (0.007), p = 0.049, and adults [0.053 (0.023), p = 0.025]. The association of CTC1 remained significant when taken together with OBFC1 and TERT in a multivariable model. Furthermore, CTC1 showed significant association with B-cell ALL [−0.057(0.017), p = 0.002) and T-cell ALL [−0.050 (0.018), p = 0.008] in pediatric group while no such association was noted in adults. Together, our findings demonstrated that telomere modulating genes, particularly CTC1, are strongly associated with ALL. Therefore, CTC1 can potentially be used as a risk biomarker for the identification of ALL in both pediatrics and adults. Full article
(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)
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9 pages, 1155 KiB  
Case Report
A Novel Constitutional t(3;8)(p26;q21) and ANKRD26 and SRP72 Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications
by Viviane Lamim Lovatel, Ana Paula Bueno, Elaiza Almeida Antônio de Kós, Laura Guimarães Corrêa Meyer, Gerson Moura Ferreira, Mayara de Fátima Kalonji, Fabiana Vieira de Mello, Cristiane Bedran Milito, Elaine Sobral da Costa, Eliana Abdelhay, Maria Dolores Tabernero Redondo, Maria S. Pombo-de-Oliveira and Teresa de Souza Fernandez
J. Clin. Med. 2023, 12(9), 3171; https://doi.org/10.3390/jcm12093171 - 28 Apr 2023
Viewed by 1354
Abstract
Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the [...] Read more.
Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the ANKRD26 and SRP72 variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution. Case presentation: A 4-year-old girl showed repeated infections and severe neutropenia. Bone marrow presented hypocellularity with dysplastic features. The patient had a t(3;8)(p26;q21)c identified by G-banding and FISH analysis. The family nucleus investigation identified the paternal origin of the chromosomal translocation. The NGS study identified ANKRD26 and SRP72 variants of maternal origin. CGH-array analysis detected alterations in PRSS3P2 and KANSL genes. Immunohistochemistry showed abnormal p53 expression during the MDS evolution. Conclusion: This study shows for the first time, cytogenetic and genomic abnormalities inherited from the father and mother, respectively, and their clinical implications. It also shows the importance of investigating patients with constitutional cytogenetic alterations and/or germline variants to provide information to their family nucleus for genetic counseling and understanding of the pathogenesis of childhood MDS. Full article
(This article belongs to the Special Issue Clinical and Molecular Diagnosis of Hematologic Malignancies)
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