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E-pub ahead of print

9p21.3 microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

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DOI

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Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions spanning both CDKN2A and CDKN2B associated with a cancer predisposition syndrome (CPS) that constitutes a risk of cancer beyond those associated with haploinsufficiency of each gene individually, indicating an additive effect or a contiguous gene deletion syndrome. We report a young woman with a de novo germline 9p21 microdeletion involving the CDKN2A/CDKN2B genes, who developed six primary cancers since childhood, including a very rare extraskeletal osteosarcoma (eOS) at the age of 8. To our knowledge this is the first report of eOS in a patient with CDKN2A/CDKN2B deletion.

OriginalsprogEngelsk
TidsskriftCold Spring Harbor Molecular Case Studies
ISSN2373-2873
DOI
StatusE-pub ahead of print - 14 apr. 2022

Bibliografisk note

Cold Spring Harbor Laboratory Press.

ID: 77550388