SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas

Acta Neuropathologica Communications
Heidi V N Küsters-VandeveldeClemens F M Prinsen

Abstract

Like uveal melanomas, primary leptomeningeal melanocytic neoplasms (LMNs) frequently carry GNAQ and GNA11 mutations. However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as well. In this study, we used Sanger sequencing for the detection of mutations in SF3B1 (hotspots in exon 14 and 15) and EIF1AX (exon 1 and 2 and flanking intronic regions) in a series of 24 primary LMNs. Additionally, BAP1 immunohistochemistry was used as a surrogate marker for the detection of inactivating mutations in the BAP1 gene. Mutations in either SF3B1 or EIF1AX were identified in 8 out of 24 primary LMNs (33 %). The presence of these mutations was mutually exclusive and occurred in primary LMNs of different malignancy grades (melanocytomas, intermediate-grade melanocytic tumors, melanomas). Complete absence of nuclear BAP1 staining as is typically seen in BAP1-mutated tumors was not observed. Our finding that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level. This information may not only aid in the differential diagnosis of prim...Continue Reading

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Citations

Jan 21, 2017·Journal of Neurosurgery·Yislenz Narváez-MartínezMaria Teresa Fernandez-Figueras
Jun 28, 2017·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Muhammad Umar AliCao Jiang
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Sep 10, 2020·Biomarker Research·Zhixia ZhouPeifeng Li
Sep 26, 2020·Journal of Neuropathology and Experimental Neurology·Teresa San-MiguelMiguel Cerdá-Nicolas
Jun 13, 2018·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Klaus G GriewankDirk Schadendorf
Aug 2, 2019·Ocular Oncology and Pathology·Martina C Herwig-CarlHans E Grossniklaus

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Methods Mentioned

BETA
PCR
biopsy

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