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Is it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach
Author(s) -
Cornejo Kristine M.,
Hutchinson Lloyd,
Cosar Ediz F.,
Smith Thomas,
Tomaszewicz Keith,
Dresser Karen,
Deng April
Publication year - 2013
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/pin.12107
Subject(s) - gnaq , cdkn2a , pathology , neoplasm , melanoma , monosomy , neuroblastoma ras viral oncogene homolog , metastasis , hematopathology , medicine , biology , cytogenetics , cancer research , chromosome , karyotype , mutation , cancer , kras , biochemistry , colorectal cancer , gene
Primary melanocytic neoplasms of the central nervous system ( CNS ) are uncommon and must be distinguished from metastatic lesions as patients with metastatic disease carry a worse prognosis. Therefore, tools to aid in the diagnosis of a primary CNS melanocytic neoplasm would be of clinical utility. Primary CNS melanocytic neoplasms, including uveal melanomas have frequent mutations in GNAQ and GNA11 , but are rare in cutaneous and mucosal melanomas. Additionally, primary uveal melanomas often exhibit monosomy 3 conferring an elevated risk of metastasis. We present a 63 year‐old male with a melanocytic neoplasm in the thoracic spinal cord. Molecular studies revealed the tumor contained a GNAQ mutation and four‐color fluorescent in situ hybridization ( FISH ) composed of chromosome enumeration probes for 3, 7, 17 and a locus specific probe for 9p21/ CDKN2A yielded a normal result (i.e. two copies per cell), favoring a primary versus metastatic melanocytic neoplasm of the CNS . We report a case in which the combination of mutational analysis and FISH aided in identifying the origin of the neoplasm.