Department of Pathology, UT Southwestern Medical Center, Dallas, TX.
Department of Pathology, The Johns Hopkins Hospital.
Am J Surg Pathol. 2019 Aug;43(8):1023-1032. doi: 10.1097/PAS.0000000000001273.
Salivary gland adenocarcinoma not otherwise specified (NOS) is a heterogenous group, likely containing distinct tumors not yet characterized. A growing number of low to intermediate-grade salivary carcinomas are now known to harbor tumor-specific gene fusions. On occasion, identifying a novel fusion allows for recognition of a new salivary tumor type, in addition to representing a potential diagnostic tool. We sought to characterize a distinctive salivary gland adenocarcinoma that would previously have been regarded as adenocarcinoma NOS. On the basis of the recognition of 5 morphologically identical, distinct low-grade salivary adenocarcinomas, we used targeted RNA sequencing (RNA-Seq) to determine whether these could be differentiated from other fusion-associated salivary gland tumors. RNA-Seq was performed on all 5 low-intermediate grade adenocarcinomas NOS with near-identical histologic appearances, as well as 23 low-intermediate grade control adenocarcinoma NOS cases that did not resemble the index cases. All 5 index cases harbored a novel MEF2C-SS18 gene fusion, which was independently confirmed by reverse transcriptase-polymerase chain reaction. The MEF2C-SS18-positive cases arose in the oral cavity (4/5) and parotid gland (1/5) of 3 women and 2 men ranging from 21 to 80 years (mean: 46) and shared near-identical histologic features: intercalated duct-like cells with eosinophilic to clear cytoplasm and small, uniform oval nuclei, infiltrative microcysts and cords, abundant intraluminal secretions, and cellular fibromyxoid stroma. Mitotic rates were low; necrosis was absent. All MEF2C-SS18-positive tumors were positive for S100 and p63 and negative for p40, smooth muscle actin, calponin, and mammaglobin. One of the 23 control cases, a parotid tumor, was found to contain a SS18-ZBTB7A gene fusion; it demonstrated similar, but not identical histologic and immunophenotypic features compared with the MEF2C-SS18 cases. The remaining control cases were negative for SS18 and MEF2C rearrangements. A novel MEF2C-SS18 gene fusion and unique histologic and immunophenotypic features characterize a heretofore undefined low-grade salivary adenocarcinoma for which we propose the term "microsecretory adenocarcinoma." RNA-Seq helped establish this entity as a distinct tumor type, and identified one possibly related case with a different SS18-related fusion. The recognition of microsecretory adenocarcinoma and its separation from other adenocarcinomas NOS will facilitate a more complete understanding of the clinical and pathologic characteristics of this previously unrecognized neoplasm.
唾液腺癌未特指(NOS)是一组异质性肿瘤,可能包含尚未明确的不同肿瘤。越来越多的低至中度分化的唾液腺癌现在已知存在肿瘤特异性基因融合。偶尔,识别一种新的融合可以识别一种新的唾液腺癌类型,同时也代表一种潜在的诊断工具。我们试图描述一种以前被认为是腺癌 NOS 的具有特征性的唾液腺癌。基于识别出 5 种形态完全相同的、不同的低度唾液腺癌,我们使用靶向 RNA 测序(RNA-Seq)来确定它们是否可以与其他与融合相关的唾液腺肿瘤区分开来。对所有 5 种具有相似组织学表现的低-中级别腺癌 NOS 以及 23 例与指数病例不相似的低-中级别腺癌 NOS 控制病例进行了 RNA-Seq。所有 5 个指数病例均存在一种新的 MEF2C-SS18 基因融合,该融合通过逆转录-聚合酶链反应(RT-PCR)得到独立证实。MEF2C-SS18 阳性病例发生于 3 名女性和 2 名男性的口腔(4/5)和腮腺(1/5),年龄 21-80 岁(平均 46 岁),具有相似的组织学特征:具有嗜酸性至透明细胞质和小而均匀的卵圆形核的间插导管样细胞、浸润性微囊和条索、丰富的腔内分泌物和细胞纤维粘液样基质。有丝分裂率低;无坏死。所有 MEF2C-SS18 阳性肿瘤均为 S100 和 p63 阳性,p40、平滑肌肌动蛋白、钙调蛋白和乳球蛋白阴性。23 例对照病例中的 1 例为腮腺肿瘤,发现含有 SS18-ZBTB7A 基因融合;与 MEF2C-SS18 病例相比,其具有相似但不完全相同的组织学和免疫表型特征。其余对照病例均为 SS18 和 MEF2C 重排阴性。一种新的 MEF2C-SS18 基因融合和独特的组织学和免疫表型特征,为以前未定义的低度唾液腺癌提供了特征,我们提出了“微分泌性腺癌”这一术语。RNA-Seq 有助于将这种实体确定为一种独特的肿瘤类型,并确定了一个可能与不同 SS18 相关融合相关的病例。识别微分泌性腺癌并将其与其他腺癌 NOS 区分开来,将有助于更全面地了解这种以前未被认识的肿瘤的临床和病理特征。