Ovarian uveal melanoma metastasis showing MLH1/PMS2 protein loss in a patient with Lynch Syndrome

Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

Virchows Archiv ◽

10.1007/s00428-016-2052-4 ◽

2016 ◽

Vol 470 (3) ◽

pp. 347-352 ◽

Cited By ~ 5

Author(s):

João Lobo ◽

Carla Pinto ◽

Micaela Freitas ◽

Manuela Pinheiro ◽

Rámon Vizcaino ◽

...

Keyword(s):

Lynch Syndrome ◽

Uveal Melanoma ◽

Ovarian Metastasis ◽

Protein Loss

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Digital Image Analysis of BAP-1 Accurately Predicts Uveal Melanoma Metastasis

Translational Vision Science & Technology ◽

10.1167/tvst.8.3.11 ◽

2019 ◽

Vol 8 (3) ◽

pp. 11 ◽

Cited By ~ 6

Author(s):

Gustav Stålhammar ◽

Thonnie Rose O. See ◽

Stephen Phillips ◽

Stefan Seregard ◽

Hans E. Grossniklaus

Keyword(s):

Image Analysis ◽

Uveal Melanoma ◽

Digital Image ◽

Digital Image Analysis ◽

Melanoma Metastasis

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Investigation of prognostic indicators for human uveal melanoma as biomarkers of canine uveal melanoma metastasis

Journal of Small Animal Practice ◽

10.1111/jsap.12141 ◽

2013 ◽

Vol 54 (11) ◽

pp. 584-593 ◽

Cited By ~ 16

Author(s):

P. Malho ◽

K. Dunn ◽

D. Donaldson ◽

R. R. Dubielzig ◽

Z. Birand ◽

...

Keyword(s):

Uveal Melanoma ◽

Prognostic Indicators ◽

Melanoma Metastasis

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Immunoexpression of Macroh2a in Uveal Melanoma

Applied Sciences ◽

10.3390/app9163244 ◽

2019 ◽

Vol 9 (16) ◽

pp. 3244 ◽

Cited By ~ 5

Author(s):

Salvatorelli ◽

Puzzo ◽

Bartoloni ◽

Palmucci ◽

Longo ◽

...

Keyword(s):

Early Diagnosis ◽

Uveal Melanoma ◽

Metastatic Disease ◽

Cutaneous Melanoma ◽

High Expression ◽

Melanoma Metastasis ◽

Proper Treatment ◽

Immunohistochemical Expression ◽

Prognostic Role

MacroH2A is a histone variant whose expression has been studied in several neoplasms, including cutaneous melanomas (CMs). In the literature, it has been demonstrated that macroH2A.1 levels gradually decrease during CM progression, and a high expression of macroH2A.1 in CM cells relates to a better prognosis. Although both uveal and cutaneous melanomas arise from melanocytes, uveal melanoma (UM) is biologically and genetically distinct from the more common cutaneous melanoma. Metastasis to the liver is a frequent occurrence in UM, and about 40%–50% of patients die of metastatic disease, even with early diagnosis, proper treatment, and close follow-up. We wanted to investigate macroH2A.1 immunohistochemical expression in UM. Our results demonstrated that mH2A.1 expression was higher in metastatic UM (21/23, 91.4%), while only 18/32 (56.3%). UMs without metastases showed mH2A.1 staining. These data could suggest a possible prognostic role for mH2A.1 and could form a basis for developing new pharmacological strategies for UM treatment.

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Genome-Wide Analysis of Uveal Melanoma Metastasis-Associated LncRNAs and Their Functional Network

DNA and Cell Biology ◽

10.1089/dna.2017.4015 ◽

2018 ◽

Vol 37 (2) ◽

pp. 99-108 ◽

Cited By ~ 5

Author(s):

Binbin Xu ◽

Ruiqi Ma ◽

Hui Ren ◽

Jiang Qian

Keyword(s):

Uveal Melanoma ◽

Functional Network ◽

Melanoma Metastasis ◽

Genome Wide Analysis ◽

Genome Wide

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The left ventricle as the first site of uveal melanoma metastasis 13 years after treatment of the primary tumor

Melanoma Research ◽

10.1097/cmr.0b013e328344958c ◽

2011 ◽

Vol 21 (2) ◽

pp. 160-163 ◽

Cited By ~ 1

Author(s):

Nathalie A. Kolandjian ◽

Sapna P. Patel ◽

Nicholas E. Papadopoulos ◽

Agop Y. Bedikian

Keyword(s):

Left Ventricle ◽

Uveal Melanoma ◽

Primary Tumor ◽

Melanoma Metastasis

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BAP1 methylation: a prognostic marker of uveal melanoma metastasis

npj Precision Oncology ◽

10.1038/s41698-021-00226-8 ◽

2021 ◽

Vol 5 (1) ◽

Author(s):

Mathieu F. Bakhoum ◽

Ellis J. Curtis ◽

Michael H. Goldbaum ◽

Paul S. Mischel

Keyword(s):

High Risk ◽

Dna Sequencing ◽

Prognostic Marker ◽

Uveal Melanoma ◽

Primary Tumor ◽

Melanoma Metastasis ◽

Primary Cancer ◽

Melanoma Patients

AbstractUveal melanoma, the most common intraocular primary cancer in adults, is characterized by striking variability in metastatic tendencies. BAP1 deletion in the primary tumor is associated with uveal melanoma metastasis, but it cannot always be resolved by bulk DNA sequencing of heterogeneous tumors. Here, we show that assessment of BAP1 methylation is an accurate and readily clinically actionable assay to accurately identify high-risk uveal melanoma patients.

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A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue

Genes ◽

10.3390/genes11030325 ◽

2020 ◽

Vol 11 (3) ◽

pp. 325

Author(s):

Gašper Klančar ◽

Ana Blatnik ◽

Vita Šetrajčič Dragoš ◽

Vesna Vogrič ◽

Vida Stegel ◽

...

Keyword(s):

Lynch Syndrome ◽

Tumor Tissue ◽

Molecular Genetic ◽

The Novel ◽

Protein Loss ◽

Nccn Guidelines ◽

Dna Mismatch ◽

Pathogenic Variants ◽

Novel Variant ◽

Lynch Syndrome Family

The diagnostics of Lynch syndrome (LS) is focused on the detection of DNA mismatch repair (MMR) system deficiency. MMR deficiency can be detected on tumor tissue by microsatellite instability (MSI) using molecular genetic test or by loss of expression of one of the four proteins (MLH1, MSH2, MSH6, and PMS2) involved in the MMR system using immunohistochemistry (IHC) staining. According to the National Comprehensive Cancer Network (NCCN) guidelines, definitive diagnosis of LS requires the identification of the germline pathogenic variant in one of the MMR genes. In the report, we are presenting interesting novel MLH1 in-frame deletion LRG_216t1:c.2236_2247delCTGCCTGATCTA p.(Leu746_Leu749del) associated with LS. The variant appears to be associated with uncommon isolated loss of PMS2 immunohistochemistry protein staining (expression) in tumor tissue instead of MLH1 and PMS2 protein loss, which is commonly seen with pathogenic variants in MLH1. The variant was classified as likely pathogenic, based on segregation analysis and molecular characterization of blood and tumor samples. According to the American College of Medical Genetics (ACMG) guidelines, the following evidence categories of PM1, PM2, PM4, and PP1 moderate have been used for classification of the novel variant. By detecting and classifying the novel MLH1 variant as likely pathogenic, we confirmed the LS in this family.

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