Case report: The smallest 9p21.3 microdeletion involving <i>CDKN2A</i> but not <i>CDKN2B</i> causes multiple plexiform neurofibromas.

ABSTRACT: Chromosome 9p21.3 is a locus associated with a rare autosomal dominant cancer predisposition syndrome characterized by early-onset melanoma and a broad spectrum of neural system tumors. Two major tumor-suppressor genes, cyclin-dependent kinase inhibitor 2A and 2B (CDKN2A and CDKN2B), as well as a large non-coding RNA ANRIL, are often co-deleted in the core region. Herein, we report a pregnant woman who had developed more than 20 plexiform neurofibromas since the age of 13 and experienced 11 times of surgical resections. No melanoma or other tumors were found. A germline 9p21.3 deletion involving CDKN2A and the first exon of ANRIL, but not CDKN2B, was identified by whole exome sequencing (WES) and confirmed by quantitative PCR. Prenatal diagnosis wa

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC11880698 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature