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Abstract/Summary
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<jats:title>Abstract</jats:title><jats:sec>
<jats:title>Background</jats:title>
<jats:p>Germline <jats:italic>CDKN2A</jats:italic> 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 <jats:italic>CDKN2A</jats:italic> mutations, has been described. However, screening for HNSCC is not a routine practice in patients with <jats:italic>CDKN2A</jats:italic> germline mutations and these mutations are not a conventional test for HNSCC patients without obvious risk factors.</jats:p>
</jats:sec><jats:sec>
<jats:title>Case presentation</jats:title>
<jats:p>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 cavity and oropharynx. Detailed family history demonstrated that her mother was diagnosed with OSCC and melanoma in her 40 s, and her maternal grandfather was diagnosed with metastatic melanoma in his 40 s. Genetic testing of the patient and her mother revealed <jats:italic>CDKN2A</jats:italic> c.301G>T mutation. She was referred to genetic counseling as well as to dermatology, gastroenterology, and neurology for cancer surveillance. She was treated with resections and has no evidence of disease 3 years after diagnosis.</jats:p>
</jats:sec><jats:sec>
<jats:title>Conclusions</jats:title>
<jats:p>We report a family with a <jats:italic>CDKN2A</jats:italic> c.301 G>T mutation who also have significant history of OSCC, adding to the growing body of literature suggesting increased risk of HNSCC, particularly OSCC, in <jats:italic>CDKN2A</jats:italic> germline mutation carriers. It is important to consider <jats:italic>CDKN2A</jats:italic> mutation testing in familial HNSCC and young patients without obvious risk factors. Moreover, surveillance for HNSCC should be routine practice in those with a <jats:italic>CDKN2A</jats:italic> germline mutation.</jats:p>
</jats:sec><jats:sec>
<jats:title>Graphical abstract</jats:title>
</jats:sec>
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Hinweis
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DeepGreen-ID: eae4813098d34f95947eccb6544c0769 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
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