Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.

ABSTRACT:

Background

Germline CDKN2A mutations are a well-known cause of familial atypical multiple mole melanoma (OMIM #155601) and melanoma-pancreatic cancer syndrome (OMIM #606719). Increased risk of head and neck squamous cell carcinoma (HNSCC), particularly oral squamous cell carcinoma (OSCC) in those with germline CDKN2A mutations, has been described. However, screening for HNSCC is not a routine practice in patients with CDKN2A germline mutations and these mutations are not a conventional test for HNSCC patients without obvious risk factors.

Case presentation

We describe a female with no smoking history who developed oral squamous cell carcinoma at age 39 and had a complex clinical course of recurrent multifocal squamous cell carcinoma (SCC) and carcinoma in situ of the oral ca

SUBMITTER: Jeong AR 

PROVIDER: S-EPMC8818223 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature