Kawaura Ryo, Ishikawa Tomohiko, Shibata Hirofumi, Kuroki Masashi, Kobayashi Kazuhiro, Hanamatsu Yuki, Miyazaki Tatsuhiko, Tomita Hiroyuki, Ishihara Takuma, Usubuchi Hajime, Aoyama Yayoi, Asada Yukinori, Imai Takayuki, Ohkoshi Akira, Hara Akira, Katori Yukio, Furukawa Toru, Ogawa Takenori
Department of Otolaryngology-Head and Neck Surgery, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Miyagi, Japan.
Discov Oncol. 2025 Jul 3;16(1):1254. doi: 10.1007/s12672-025-03072-3.
Secretory carcinomas (SCs) of the salivary gland have recently been recognized as low-grade, malignant tumors. Before this designation, most SCs were diagnosed as variants of acinic cell carcinomas (AciCCs). SCs harbor the t(12;15)(p13;q25) translocation that generates an oncogenic fusion gene, ETS variant transcription factor 6/Neurotrophic tyrosine receptor kinase(ETV6::NTRK3). However, detecting fusion genes in a clinical setting is time-consuming and costly. In this study, we examined 31 cases previously diagnosed as AciCC and SC using pathological analyses with detection of fusion genes using ETV6 break-apart fluorescence in-situ hybridization and reverse transcription-polymerase chain reaction. After re-analysis, we found that these 31 cases actually comprised 21 SCs and 10 AciCCs. We examined the diagnostic utility of immunohistochemistry by comparing results with the fusion gene, Pan-Trk, which despite having recently been reported as effective for diagnosis of SC, was not universally accurate. However, combining mammaglobin and S-100 could be particularly useful in diagnosing SC. This practical method will contribute to accurate diagnosis of SCs, while saving time in daily clinical practice.
唾液腺分泌性癌(SCs)最近被认为是低级别恶性肿瘤。在此之前,大多数SCs被诊断为腺泡细胞癌(AciCCs)的变异型。SCs存在t(12;15)(p13;q25)易位,该易位产生一种致癌融合基因,即ETS变异转录因子6/神经营养性酪氨酸受体激酶(ETV6::NTRK3)。然而,在临床环境中检测融合基因既耗时又昂贵。在本研究中,我们使用病理分析以及通过ETV6断裂分离荧光原位杂交和逆转录聚合酶链反应检测融合基因,对31例先前诊断为AciCC和SC的病例进行了检查。重新分析后,我们发现这31例病例实际上包括21例SCs和10例AciCCs。我们通过将结果与融合基因Pan-Trk进行比较,研究了免疫组织化学的诊断效用,尽管最近有报道称Pan-Trk对SCs的诊断有效,但并非普遍准确。然而,联合乳腺珠蛋白和S-100在SCs的诊断中可能特别有用。这种实用方法将有助于SCs的准确诊断,同时在日常临床实践中节省时间。