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
Pages (from-to)a006164
Publication statusPublished - Jun 2022


  • 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


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