Channir Hani Ibrahim, van Overeem Hansen Thomas, Andreasen Simon, Yde Christina Westmose, Kiss Katalin, Charabi Birgitte Wittenborg
Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Head Neck Pathol. 2017 Dec;11(4):546-551. doi: 10.1007/s12105-017-0801-6. Epub 2017 Feb 16.
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.
腺样囊性癌（AdCC）是一种恶性唾液腺肿瘤。迄今为止，文献中尚未报道过一级亲属患腺样囊性癌的病例。我们报告了一名50岁女性（病例1）及其父亲（病例2），两人均被诊断为小唾液腺腺样囊性癌。病例1的组织学表现为筛状型腺样囊性癌，而病例2主要为实体型腺样囊性癌。荧光原位杂交（FISH）和RNA测序显示，两例均存在MYB-NFIB基因融合。在筛选和选择可能的有害变异后，全外显子测序在病例1和病例2之间共鉴定出18个种系变异。然而，这些变异均与腺样囊性癌或其他头颈癌无关。据我们所知，我们报告了首例可能的家族性腺样囊性癌病例。所提供的基因数据可能有助于进一步研究腺样囊性癌易感性的潜在遗传机制。
