Data_Sheet_2_Telomere Maintenance Associated Mutations in the Genetic Landscape of Gynecological Mucosal Melanoma.docx (2.66 MB)
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Data_Sheet_2_Telomere Maintenance Associated Mutations in the Genetic Landscape of Gynecological Mucosal Melanoma.docx

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posted on 02.09.2020, 04:16 authored by Guangwen Yuan, Jinge Song, Ning Li, Qianqian Song, Yifei Li, Yingxi Du, Xiaobing Wang, Yuchen Jiao, Lingying Wu
Purpose

Gynecological melanomas (GMs) are rare tumors with a poor prognosis. Here, we performed exome sequencing to generate the mutational landscape of GMs.

Methods

Next-generation sequencing was carried out on mucosal melanoma samples (n = 35) obtained from gynecological sites. The alternative telomere lengthening (ALT) phenotype was verified by fluorescence in situ hybridization and the C-circle assay. Immunohistochemistry was performed to detect ATRX protein. Copy number variations in TERT were detected by droplet digital polymerase chain reaction.

Results

In the 58 formalin-fixed paraffin-embedded samples, we identified 33 (56.9%) ALT-positive cases, with 23 showing loss of ATRX protein. TERT promoter mutation was not detected in GMs (n = 40), but copy number variations in the TERT region were observed in 20% (7/35) of the samples. TERT amplification was mutually exclusive with ALT (P < 0.05). Kaplan–Meier revealed that ALT relative to TERT amplification was associated with longer overall survival in GM patients without metastasis.

Conclusion

These findings indicate that telomere maintenance mechanisms play a critical role in the tumorigenesis of GMs and may aid in the prediction of clinical prognosis and the development of targeted therapy for the treatment of GM.

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