同时鉴定唾液腺癌中新的 EGFR-SEPT14 融合和 ETV6-RET 融合。
Concurrent Identification of Novel EGFR-SEPT14 Fusion and ETV6-RET Fusion in Secretory Carcinoma of the Salivary Gland.
机构信息
Department of Pathology, New York University Langone Health, 550 First Avenue, New York, NY, 10016, USA.
Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
出版信息
Head Neck Pathol. 2020 Sep;14(3):817-821. doi: 10.1007/s12105-019-01074-6. Epub 2019 Sep 9.
Salivary gland secretory carcinoma, also termed mammary analogue secretory carcinoma (MASC), is a recently described salivary gland neoplasm with characteristic histomorphologic findings similar to those of secretory carcinoma of the breast and harboring recurrent ETV6-NTRK3 fusions. Recent findings have expanded the molecular profile of salivary gland secretory carcinoma to include multiple novel ETV6 fusion partners, including RET, MET, and MAML3. Here, we report a case of cystic MASC with cribriform and papillary histology harboring two gene fusions, ETV6-RET and EGFR-SEPT14, identified by targeted RNA sequencing. The presence of the rearrangements was confirmed by FISH, RT-PCR, and Sanger sequencing. This is the first EGFR-SEPT14 fusion reported in secretory carcinoma as a single event or in association with an ETV6 rearrangement. This finding adds to the expanding molecular profile of this tumor entity, and may translate into novel treatment strategies.
涎腺分泌性癌，也称为乳腺样分泌性癌（MASC），是一种最近描述的涎腺肿瘤，具有与乳腺分泌性癌相似的特征性组织形态学表现，并具有反复发生的 ETV6-NTRK3 融合。最近的研究结果扩展了涎腺分泌性癌的分子特征谱，包括多个新的 ETV6 融合伙伴，如 RET、MET 和 MAML3。在这里，我们报告了一例囊性 MASC，具有筛状和乳头状组织学特征，携带两种基因融合，即 ETV6-RET 和 EGFR-SEPT14，这两种融合通过靶向 RNA 测序确定。通过 FISH、RT-PCR 和 Sanger 测序证实了重排的存在。这是首例 EGFR-SEPT14 融合报告在分泌性癌中作为单一事件或与 ETV6 重排相关。这一发现增加了该肿瘤实体不断扩展的分子特征谱，并可能转化为新的治疗策略。
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