Molecular Pathology and Testing in Melanocytic Tumors

Hedayat, A.; Yan, Shaofeng; Tsongalis, Gregory J.

doi:10.1016/b978-0-12-800886-7.00025-x

Cited by 1 publication

(2 citation statements)

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“…Single nucleotide polymorphism array (SNP‐array) is a chromosomal microarray (CMA) technique that can use DNA extracted from formalin‐fixed paraffin‐embedded (FFPE) and blood to evaluate the entire genome. The results include a detailed assessment of recurrent copy number aberrations and loss of heterozygosity . In melanocytic pathology this test can be helpful in diagnostically difficult lesions for assessing the genomic stability of the neoplasm.…”

Section: Introductionmentioning

confidence: 99%

“…The results include a detailed assessment of recurrent copy number aberrations and loss of heterozygosity. [9][10][11] In melanocytic pathology this test can be helpful in diagnostically difficult lesions for assessing the genomic stability of the neoplasm. For example, conventional nevi are not expected to harbor copy number aberrations, whereas multiple segmental gains and losses, especially involving chromosomes 6p, 11q, 8q and 9p, are characteristic of melanoma.…”

Section: Introductionmentioning

confidence: 99%

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BAP1‐deficient tumor/nevus with germline aberration: A potential pitfall in assessing melanocytic neoplasms with single nucleotide polymorphism array

et al. 2019

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BRCA1‐associated protein 1 (BAP1) is a tumor suppressor gene, located on chromosome 3p21, encoding BAP1 nuclear protein, which is associated with a subset of melanocytic tumors with distinct cytologic features. Single nucleotide polymorphism array (SNP‐array) is a molecular karyotyping technique that can detect copy number variations and loss of heterozygosity in various fresh and formalin‐fixed paraffin‐embedded tissues. Herein we present a 56‐year‐old female, who presented with a lesion on her left nose/cheek that was growing in size and changing in color. Histopathology was characteristic of a BAP1‐deficient melanocytic neoplasm, with a biphasic population of cytologically bland conventional nevomelanocytes and a proliferation of large epithelioid melanocytes with abundant eosinophilic cytoplasm. Immunohistochemistry for BAP1 showed loss of nuclear labeling in the epithelioid melanocytes. SNP‐array revealed a chromosome 21q22.1 monoaberration with no chromosome 3 abnormalities. The detection of this aberration prompted a discussion as to whether the lesion was best designated as a nevus or tumor. SNP‐array on the patient's blood showed the same monoaberration of chromosome 21q22.1. This case emphasizes the importance of interpreting microarray results in the context of morphology, as germline aberrations can be a pitfall when assessing the genomic stability of a melanocytic proliferation by SNP array.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%