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

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

Cold Spring Harbor Molecular Case Studies Pub Date : 2022-04-14 DOI:10.1101/mcs.a006164

Marlene Richter Jensen, U. Stoltze, T. V. Hansen, M. Bak, A. Sehested, C. Rechnitzer, R. Mathiasen, D. Scheie, K. B. Larsen, T. Olsen, A. Muhic, J. Skjøth-Rasmussen, M. Rossing, K. Schmiegelow, K. Wadt

引用次数: 1

Abstract

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.

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涉及CDKN2A/2B的微缺失在多原发癌症年轻患者中的应用及文献回顾

CDKN2A的种系致病变异易导致各种癌症，包括黑色素瘤、胰腺癌和神经系统肿瘤，而CDKN2B变异与肾细胞癌相关。一些病例报告描述了与癌症易感性综合征(CPS)相关的跨越CDKN2A和CDKN2B的杂合种系缺失，其构成了癌症风险，超出了与单个基因单倍不足相关的风险，表明了累加效应或连续基因缺失综合征。我们报告了一位年轻女性，她患有涉及CDKN2A/CDKN2B基因的新生种系9p21微缺失，自童年以来患上了六种原发性癌症，包括8岁时非常罕见的骨骼外骨肉瘤(eOS)。据我们所知，这是CDKN2A/CDKN2B缺失患者首次报道eOS。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.20

自引率

0.00%

发文量

期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.