title: Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives.
abstract: 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.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark. Hani.Ibrahim.Channir.02@regionh.dk.
authors.forename: Hani Ibrahim
authors.identifier: http://orcid.org/0000-0002-2569-9247
authors.initials: HI
authors.lastname: Channir
authors.affiliation: Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Thomas
authors.initials: T
authors.lastname: van Overeem Hansen
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Simon
authors.initials: S
authors.lastname: Andreasen
authors.affiliation: Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Christina Westmose
authors.initials: CW
authors.lastname: Yde
authors.affiliation: Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Frederik V's Vej 11, 2100, Copenhagen, Denmark.
authors.forename: Katalin
authors.initials: K
authors.lastname: Kiss
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
authors.forename: Birgitte Wittenborg
authors.initials: BW
authors.lastname: Charabi
mesh_terms: D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010375:Pedigree; D012468:Salivary Gland Neoplasms / Q000235:genetics*; D012470:Salivary Glands, Minor / Q000473:pathology*
chemical_list: C545202:MYB-NFIB fusion protein, human; D015514:Oncogene Proteins, Fusion
keywords: Adenoid cystic carcinoma; Hereditary; MYB–NFIB; Minor salivary glands; Relatives; Sequencing