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

Research output: Contribution to journalReviewResearchpeer-review


  • Fulltext

    Final published version, 4.3 MB, PDF document

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.

Original languageEnglish
Article numbera006164
JournalCold Spring Harbor molecular case studies
Issue number4
Publication statusPublished - 2022

    Research areas

  • astrocytoma, cutaneous melanoma, neoplasm of the skin, neurofibromas, osteosarcoma

Number of downloads are based on statistics from Google Scholar and www.ku.dk

No data available

ID: 326631092