9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature
Open Access
- 14 April 2022
- journal article
- review article
- Published by Cold Spring Harbor Laboratory in Cold Spring Harbor Molecular Case Studies
- Vol. 8 (4)
- https://doi.org/10.1101/mcs.a006164
Abstract
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.Keywords
This publication has 24 references indexed in Scilit:
- Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer developmentThe Journal of Pathology, 2015
- Copy Number Loss of the Interferon Gene Cluster in Melanomas Is Linked to Reduced T Cell Infiltrate and Poor Patient PrognosisPLOS ONE, 2014
- A large de novo9p21.3 deletion in a girl affected by astrocytoma and multiple melanomaBMC Medical Genetics, 2014
- Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjectsBMC Medical Genetics, 2014
- Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP TranscriptsAmerican Journal of Human Genetics, 2012
- Role of Noncoding RNA ANRIL in Genesis of Plexiform Neurofibromas in Neurofibromatosis Type 1JNCI Journal of the National Cancer Institute, 2011
- Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15INK4B tumor suppressor geneOncogene, 2010
- Molecular Interplay of the Noncoding RNA ANRIL and Methylated Histone H3 Lysine 27 by Polycomb CBX7 in Transcriptional Silencing of INK4aMolecular Cell, 2010
- Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in miceNature, 2010
- Characterization of a Germ-Line Deletion, Including the Entire INK4/ARF Locus, in a Melanoma-Neural System Tumor Family: Identification of ANRIL, an Antisense Noncoding RNA Whose Expression Coclusters with ARFCancer Research, 2007