Department of Pathology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, 3-1-69 Otemae, Chuo-ku, Osaka, 541-8567, Japan.
Med Mol Morphol. 2021 Mar;54(1):23-30. doi: 10.1007/s00795-020-00256-4. Epub 2020 Jun 1.
Secretory carcinoma (SC) of the salivary gland is a relatively newly described disease, separate from acinic cell carcinoma (ACC), which frequently displays ETV6-NTRK3 gene fusion. However, the differences between SC and ACC remain unclear. Here, histological reevaluation of 12 formerly diagnosed ACC cases was performed, which yielded a new diagnosis of SC in four cases due to a lack of obvious acinar-like cells. Immunohistochemically, phosphorylated signal transducer and activator of transcription 5 (p-STAT5) was expressed in SC but not in ACC, whereas discovered on GIST-1 (DOG1) was expressed in ACC but not in SC. Molecular analysis was possible in three SC cases, of which two showed the ETV6-NTRK3 fusion transcript on reverse-transcription polymerase chain reaction, as well as breaks in the ETV6 gene on fluorescence in situ hybridization. However, the remaining SC cases did not show this fusion transcript. Recently, several reports have suggested that SC might not be adequately diagnosed if the focus is placed solely on the ETV6-NTRK3 fusion gene due to genetic diversity. In this regard, immunohistochemistry of p-STAT5 and DOG1 is expected to be a useful alternative diagnostic tool to discriminate SC from ACC.
涎腺分泌性癌(SC)是一种新近描述的疾病,与常表现为 ETV6-NTRK3 基因融合的腺泡细胞癌(ACC)不同。然而,SC 和 ACC 之间的差异仍不清楚。在此,对 12 例先前诊断为 ACC 的病例进行了组织学重新评估,由于缺乏明显的腺泡样细胞,其中 4 例被重新诊断为 SC。免疫组化显示,SC 中表达磷酸化信号转导子和转录激活子 5(p-STAT5),而 ACC 中不表达;而发现于 GIST-1(DOG1)在 ACC 中表达,而在 SC 中不表达。对 3 例 SC 病例进行了分子分析,其中 2 例在逆转录聚合酶链反应中显示 ETV6-NTRK3 融合转录本,以及荧光原位杂交中 ETV6 基因的断裂。然而,其余的 SC 病例并未显示这种融合转录本。最近,有几项报告表明,如果仅关注 ETV6-NTRK3 融合基因,可能会导致 SC 诊断不足,因为存在遗传多样性。在这方面,p-STAT5 和 DOG1 的免疫组化有望成为区分 SC 和 ACC 的一种有用的替代诊断工具。