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- Title
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
- Authors
Jensen, Marlene Richter; Stoltze, Ulrik; Van Overeem Hansen, Thomas; Bak, Mads; Sehested, Astrid; Rechnitzer, Catherine; Mathiasen, René; Scheie, David; Larsen, Karen Bonde; Olsen, Tina Elisabeth; Muhic, Aida; Skjøth-Rasmussen, Jane; Rossing, Maria; Schmiegelow, Kjeld; Wadt, Karin
- Abstract
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. Wereport 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.
- Subjects
PATHOGENIC microorganisms; CANCER; MELANOMA; OSTEOSARCOMA; GERM cells
- Publication
Cold Spring Harbor Molecular Case Studies, 2022, Vol 8, Issue 4, p1
- ISSN
2373-2873
- Publication type
Article
- DOI
10.1101/mcs.a006164