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

TY - JOUR

T1 - Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands

T2 - A Potential Familial Occurrence in First-Degree Relatives

AU - Channir, Hani Ibrahim

AU - Hansen, Thomas van Overeem

AU - Andreasen, Simon

AU - Yde, Christina Westmose

AU - Kiss, Katalin

AU - Charabi, Birgitte Wittenborg

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

U2 - 10.1007/s12105-017-0801-6

DO - 10.1007/s12105-017-0801-6

M3 - Journal article

C2 - 28210977

SN - 1936-055X

VL - 11

SP - 546

EP - 551

JO - Head & Neck Pathology

JF - Head & Neck Pathology

IS - 4

ER -