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Advances in Molecular Understanding of Ocular Adnexal Tumors

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (28 February 2022) | Viewed by 4709

Special Issue Editor


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Guest Editor
1. Erasmus MC University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
2. The Rotterdam Eye Hospital, 3000 CA Rotterdam, The Netherlands
3. Leiden University Medical Center, 2333 ZA Leiden, The Netherlands

Interests: ocular oncology; neuro-oncology; autoimmune periorbital disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The ocular adnexal structures only make up a small volume when compared to other organs, with an orbital content of 30 cm3 and a conjunctival surface area of 17 cm2. However, these structures, including the lacrimal gland, orbital tissues, conjunctiva, caruncle and eyelids, can yield a host of different tumor types. Due to the relative rarity of ocular adnexal tumors, in many cases, therapy is often guided in analogy to that for similar, more common, tumor types elsewhere in the body. It remains to be proven that this is the optimum treatment for these particular patients.

The full molecular characteristics of the tumors from this region are not fully known. Many advances have recently been made in the molecular understanding of lacrimal gland tumors in analogy to their more frequent salivary gland counterparts. The same may be said for lymphoma, melanoma, squamous carcinoma and sebaceous carcinoma; however, whether there are special molecular–genetic or epigenetic features of tumors particular to this region is, as yet, insufficiently certain. Therefore, detailed information on chromosomal aberrations, gene fusions, mutations and epigenetics (such as microRNA, long-non-coding RNA and methylation profiling) may offer important new insights.

This Special Issue invites authors to submit comprehensive molecular biological work that aims to elucidate the molecular and epigenetic mechanisms operable in tumors of the ocular adnexa. As rare as these tumors may be, a better understanding of their molecular genetic bases and epigenetics is essential for improving the diagnosis and treatment of patients.

Dr. Robert M. Verdijk
Guest Editor

Manuscript Submission Information

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Keywords

  • molecular genetics
  • epigenetics
  • DNA methylation
  • ocular adnexal tumor
  • conjunctival melanoma
  • ocular surface squamous neoplasia
  • sebaceous carcinoma
  • ocular adnexal lymphoma
  • lacrimal gland tumor
  • orbital tumors

Published Papers (2 papers)

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Research

13 pages, 2357 KiB  
Article
miR-196b-5p and miR-107 Expression Differentiates Ocular Sebaceous Carcinoma from Squamous Cell Carcinoma of the Conjunctiva
by Ronald O. B. de Keizer, Anne L. M. Vriends, Gijsbert J. Hötte, Dion A. Paridaens, Erik A. C. Wiemer and Robert M. Verdijk
Int. J. Mol. Sci. 2022, 23(9), 4877; https://doi.org/10.3390/ijms23094877 - 28 Apr 2022
Cited by 2 | Viewed by 1541
Abstract
An Ocular Sebaceous Carcinoma (OSC) is a rare malignant tumor for which initial clinical and pathological diagnosis is often incorrect. OSCs can mimic Squamous Cell Carcinomas of the Conjunctiva (SCCC). The aim of this study was to find microRNA biomarkers to distinguish OSCs [...] Read more.
An Ocular Sebaceous Carcinoma (OSC) is a rare malignant tumor for which initial clinical and pathological diagnosis is often incorrect. OSCs can mimic Squamous Cell Carcinomas of the Conjunctiva (SCCC). The aim of this study was to find microRNA biomarkers to distinguish OSCs and SCCCs from normal tissue and from each other. Clinical OSC and SCCC case files and the corresponding histopathological slides were collected and reviewed. Micro dissected formalin-fixed paraffin-embedded tumor and control tissues were subjected to semi-high throughput microRNA profiling. MicroRNA expression distinguishes OSCs and SCCCs from corresponding control tissues. Selected differentially expressed miRNAs were validated using single RT-PCR assays. No prognostic miRNAs could be identified that reliably predict SCCC metastasis or OSC recurrence. A comparison between OSCs (n = 14) and SCCCs (n = 18) revealed 38 differentially expressed microRNAs (p < 0.05). Differentially expressed miRNAs were selected for validation in the discovery cohort and an independent validation cohort (OSCs, n = 11; SCCCs, n = 12). At least two miRNAs, miR-196b-5p (p ≤ 0.05) and miR-107 (p ≤ 0.001), displayed a statistically significant differential expression between OSCs and SCCCs with miR-196b-5p upregulated in SCCCs and miR-107 upregulated in OSCs. In the validation cohort, microRNA miR-493-3p also showed significant upregulation in SCCCs when compared to OSCs (p ≤ 0.05). ROC analyses indicated that the combined miR-196b-5p and miR-107 expression levels predicted OSCs with 90.0% sensitivity and 83.3% specificity. In conclusion, the combined testing of miR-196b-5p and miR-107, can be of additional use in routine diagnostics to discriminate OSCs from SCCCs. Full article
(This article belongs to the Special Issue Advances in Molecular Understanding of Ocular Adnexal Tumors)
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16 pages, 6807 KiB  
Article
NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas
by Cornelia Peterson, Robert Moore, Jessica L. Hicks, Laura A. Morsberger, Angelo M. De Marzo, Ying Zou, Charles G. Eberhart and Ashley A. Campbell
Int. J. Mol. Sci. 2021, 22(16), 8454; https://doi.org/10.3390/ijms22168454 - 6 Aug 2021
Cited by 6 | Viewed by 2648
Abstract
Ocular adnexal (OA) sebaceous carcinomas generally demonstrate more aggressive clinical and histopathological phenotypes than extraocular cases, but the molecular drivers implicated in their oncogenesis remain poorly defined. A retrospective review of surgical and ocular pathology archives identified eleven primary resection specimens of OA [...] Read more.
Ocular adnexal (OA) sebaceous carcinomas generally demonstrate more aggressive clinical and histopathological phenotypes than extraocular cases, but the molecular drivers implicated in their oncogenesis remain poorly defined. A retrospective review of surgical and ocular pathology archives identified eleven primary resection specimens of OA sebaceous carcinomas with adequate tissue for molecular analysis; two extraocular cases were also examined. Next-generation sequencing was used to evaluate mutations and copy number changes in a large panel of cancer-associated genes. Fluorescence in situ hybridization (FISH) confirmed MYC copy number gain in select cases, and immunohistochemistry to evaluate MYC protein expression. The commonest mutations occurred in TP53 (10/13) and RB1 (7/13). Additional mutations in clinically actionable genes, or mutations with a frequency of at least 25%, included the NF1 (3/12), PMS2 (4/12), ROS1 (3/12), KMT2C (4/12), MNX1 (6/12), NOTCH1 (4/12), PCLO (3/12), and PTPRT (3/12) loci. Low level copy number gain suggestive of amplification of the MYC locus was seen in two cases, and confirmed using FISH. MYC protein expression, as assessed by immunohistochemistry, was present in almost all sebaceous carcinoma cases. Our findings support the concept that alterations in TP53 and RB1 are the commonest alterations in sebaceous carcinoma, and suggest that MYC may contribute to the oncogenesis of these tumors. Full article
(This article belongs to the Special Issue Advances in Molecular Understanding of Ocular Adnexal Tumors)
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