English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Germline pathogenic variants in  CDKN2A  predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, while  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) which 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.

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