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dc.contributor.authorCornejo, Kristine M.
dc.contributor.authorHutchinson, Lloyd
dc.contributor.authorCosar, Ediz F.
dc.contributor.authorSmith, Thomas W.
dc.contributor.authorTomaszewicz, Keith
dc.contributor.authorDresser, Karen A.
dc.contributor.authorDeng, April
dc.date2022-08-11T08:10:09.000
dc.date.accessioned2022-08-23T16:57:15Z
dc.date.available2022-08-23T16:57:15Z
dc.date.issued2013-11-01
dc.date.submitted2015-11-09
dc.identifier.citationPathol Int. 2013 Nov;63(11):559-64. doi: 10.1111/pin.12107. <a href="http://dx.doi.org/10.1111/pin.12107">Link to article on publisher's site</a>
dc.identifier.issn1320-5463 (Linking)
dc.identifier.doi10.1111/pin.12107
dc.identifier.pmid24274719
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43100
dc.description.abstractPrimary 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.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=24274719&dopt=Abstract">Link to Article in PubMed</a>
dc.relation.urlhttp://dx.doi.org/10.1111/pin.12107
dc.subjectCentral Nervous System Neoplasms
dc.subjectDNA Mutational Analysis
dc.subjectDiagnosis, Differential
dc.subjectHumans
dc.subjectMale
dc.subjectMelanocytes
dc.subjectMelanoma
dc.subjectMiddle Aged
dc.subjectGNA11 mutation
dc.subjectGNAQ mutation
dc.subjectmelanocytoma
dc.subjectmetastatic melanoma
dc.subjectprimary CNS melanocytic neoplasm
dc.subjecturovysion
dc.subjectNeoplasms
dc.subjectPathological Conditions, Signs and Symptoms
dc.subjectPathology
dc.titleIs it a primary or metastatic melanocytic neoplasm of the central nervous system?: A molecular based approach
dc.typeJournal Article
dc.source.journaltitlePathology international
dc.source.volume63
dc.source.issue11
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/pathology_pp/19
dc.identifier.contextkey7819116
html.description.abstract<p>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.</p>
dc.identifier.submissionpathpathology_pp/19
dc.contributor.departmentDepartment of Pathology
dc.source.pages559-64


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