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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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Vis graf over relationer

Adenoid cystic carcinoma (AdCC) is a malignant salivary gland tumor. To date, no cases of AdCC in first-degree relatives have been reported in the literature. We present a 50-year-old female (Case 1) and this patients' father (Case 2), both of whom were diagnosed with AdCC of the minor salivary glands. Histology of Case 1 demonstrated a tubulocribriform AdCC whereas Case 2 primarily was an AdCC of solid type. Both cases harbored the MYB-NFIB gene fusion as demonstrated by FISH and RNA-sequencing. After filtering and selection of putative deleterious variants, whole exome sequencing identified 18 germline variants in common between Case 1 and Case 2. However, none of the variants were associated with AdCC or other head and neck cancers. To our knowledge, we present the first potential case of familial AdCC. The presented genetic data may contribute to further investigations of the underlying genetic mechanisms for AdCC susceptibility.

OriginalsprogEngelsk
TidsskriftHead and Neck Pathology
Vol/bind11
Udgave nummer4
Sider (fra-til)546-551
Antal sider6
ISSN1936-055X
DOI
StatusUdgivet - dec. 2017

ID: 52573611