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在涎腺分泌性癌中存在肌球蛋白结合蛋白受体激酶免疫反应性、ETV6-NTRK3 融合亚型和 RET 重排。

Pan-tropomyosin receptor kinase immunoreactivity, ETV6-NTRK3 fusion subtypes, and RET rearrangement in salivary secretory carcinoma.

机构信息

Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582 Japan.

Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582 Japan.

出版信息

Hum Pathol. 2021 Mar;109:37-44. doi: 10.1016/j.humpath.2020.11.017. Epub 2020 Dec 7.

Abstract

Salivary secretory carcinoma (SASC) is frequently associated with ETV6-neurotrophic tyrosine receptor kinase (NTRK) 3 fusion and more rarely with RET, MET, or ALK rearrangement. We aimed to elucidate the potential diagnostic utility of pan-tropomyosin receptor kinase (Trk) immunohistochemistry and its relationship with the fusion gene subtype in SASC. We examined 33 cases of SASC for immunoexpression of pan-Trk, ALK and ROS1, and gene rearrangement of the ETV6, NTRK3, and RET genes using fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR). Thirty (90.9%) of 33 SASCs harbored ETV6-NTRK3 fusion gene transcripts by RT-PCR and/or both ETV6 and NTRK3 gene rearrangements by FISH, and 3 cases (9.1%) had RET gene rearrangement. Most NTRK3-rearranged SASCs (27/33 cases; 81.8%) had conventional ETV6 exon 5-NTRK3 exon 15 fusion, whereas 2 cases (6.1%) had both the conventional fusion and a novel ETV6 exon 4-NTRK3 exon 15 fusion variant. In the remaining one case (3%), only FISH revealed both ETV6 and NTRK3 rearrangements, suggesting an ETV6-NTRK3 fusion with an as yet undetermined break point. All 30 SASCs with ETV6-NTRK3 fusion and/or NTRK3 rearrangement showed nuclear and cytoplasmic immunoreactivity for pan-Trk. In contrast, 3 SASCs with RET rearrangement showed negative or only weak cytoplasmic staining for pan-Trk. There was no case harboring ALK and ROS1 rearrangements. All 17 non-SASC tumors were negative for pan-Trk. The results suggest that nuclear and cytoplasmic immunoreactivity for pan-TRK may be helpful to identify ETV6-NTRK3-fused SASCs and to distinguish them from RET-rearranged SASCs and morphological mimics.

摘要

唾液分泌型癌(SASC)常与 ETV6-神经营养酪氨酸受体激酶(NTRK)3 融合相关,且较少与 RET、MET 或 ALK 重排相关。我们旨在阐明泛原肌球蛋白受体激酶(Trk)免疫组化在 SASC 中的潜在诊断效用及其与融合基因亚型的关系。我们使用荧光原位杂交(FISH)和逆转录-聚合酶链反应(RT-PCR)检测了 33 例 SASC 中泛 Trk、ALK 和 ROS1 的免疫表达以及 ETV6、NTRK3 和 RET 基因的基因重排。33 例 SASC 中有 30 例(90.9%)通过 RT-PCR 和/或 FISH 检测到 ETV6-NTRK3 融合基因转录本和 ETV6 和 NTRK3 基因重排,3 例(9.1%)有 RET 基因重排。大多数 NTRK3 重排的 SASC(27/33 例;81.8%)具有常规的 ETV6 外显子 5-NTRK3 外显子 15 融合,而 2 例(6.1%)具有常规融合和新的 ETV6 外显子 4-NTRK3 外显子 15 融合变体。在剩下的 1 例(3%)中,只有 FISH 显示 ETV6 和 NTRK3 重排,提示存在未知断点的 ETV6-NTRK3 融合。所有 30 例具有 ETV6-NTRK3 融合和/或 NTRK3 重排的 SASC 均显示出 pan-Trk 的核和细胞质免疫反应性。相比之下,3 例具有 RET 重排的 SASC 对 pan-Trk 显示阴性或仅弱阳性细胞质染色。没有携带 ALK 和 ROS1 重排的病例。17 例非 SASC 肿瘤均对 pan-Trk 阴性。结果表明,pan-Trk 的核和细胞质免疫反应性可能有助于识别 ETV6-NTRK3 融合的 SASC,并将其与 RET 重排的 SASC 和形态学模拟物区分开来。

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