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

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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.

Original languageEnglish
JournalCold Spring Harbor Molecular Case Studies
Volume8
Issue number4
Pages (from-to)a006164
ISSN2373-2873
DOIs
Publication statusPublished - Jun 2022

Bibliographical note

Cold Spring Harbor Laboratory Press.

    Research areas

  • Child, Chromosome Aberrations, Cyclin-Dependent Kinase Inhibitor p15/genetics, Cyclin-Dependent Kinase Inhibitor p16/genetics, Female, Genes, p16, Humans, Melanoma/genetics, Neoplasms, Multiple Primary/genetics, cutaneous melanoma, neoplasm of the skin, astrocytoma, neurofibromas, osteosarcoma

ID: 77550388