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唾液腺微分泌腺癌的临床病理及分子特征

[Clinicopathological and molecular characteristics of microsecretory adenocarcinoma in salivary gland].

作者信息

Sun J J, Zhang Y, Wang M, Xia R H, Tian Z, Li J

机构信息

Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology, Shanghai 200011, China.

出版信息

Zhonghua Bing Li Xue Za Zhi. 2024 Oct 8;53(10):1005-1010. doi: 10.3760/cma.j.cn112151-20240402-00217.

Abstract

To investigate the clinicopathological, immunohistochemical, and molecular genetic characteristics of microsecretory adenocarcinoma (MSA) of the salivary gland, and to improve the understanding of this rare tumor. Cases originally diagnosed as MSA at the Department of Oral Pathology, the Ninth People's Hospital of Shanghai Jiao Tong University School of Medicine were retrospectively collected. The cases of polymorphous adenocarcinoma and adenocarcinoma, not otherwise specified from January 2000 to January 2020 were reviewed to identify potential misdiagnosed MSA cases. Clinicopathological analysis and follow-up of all confirmed MSA cases were performed, and relevant literature was reviewed. A total of 4 MSA cases were identified, including 2 screened from the polymorphous adenocarcinoma cohort. Of the 4 MSA patients, 3 were male and 1 was female, with an average age of 53 years (range, 37-67 years). Three cases occurred in the palate, and one in the buccal region. The clinical manifestation was usually a slow-growing painless mass. Tumors were generally small, with a maximum diameter ranging from 0.7 to 1.8 cm (average, 1.2 cm). Microscopically, the tumor was unencapsulated and showed an infiltrative growth pattern. The tumor cells appeared small in size and showed bland, cubic and flattened cytological features, forming microcystic lumens and glandular tubes. Significant basophilic secretions were seen in the lumens. Between the tumor nests there was fibro-myxoid stroma. Immunohistochemistry showed diffusely or partially positive staining for cytokeratin 7, S-100, SOX-10, p63 and vimentin and negative staining for p40, mammaglobin, and calponin. The proliferation index of Ki-67 was relatively low (1%-3%). Four MSA cases all harbored SS18 gene rearrangement as shown by fluorescence in situ hybridization (FISH), including 2 cases with MEF2C::SS18 fusion gene through RNA-targeted next generation sequencing. All 4 patients underwent surgical resection without any adjuvant treatments. Three patients were followed up for a period of 2 to 203 months. No tumor recurrence, metastasis, or disease-related death was found. Salivary gland MSA is a novel and rare low-grade carcinoma with unique and consistent histological morphology, immunophenotype, and molecular changes. Immunohistochemical staining and SS18 break apart FISH are useful for the diagnosis of the tumor with atypical morphology and high-grade transformation.

摘要

探讨涎腺微分泌腺癌(MSA)的临床病理、免疫组化及分子遗传学特征,以增进对这种罕见肿瘤的认识。回顾性收集上海交通大学医学院附属第九人民医院口腔病理科最初诊断为MSA的病例。对2000年1月至2020年1月间的多形性腺瘤和未另行特指的腺癌病例进行复查,以识别可能误诊为MSA的病例。对所有确诊的MSA病例进行临床病理分析和随访,并复习相关文献。共确诊4例MSA病例,其中2例是从多形性腺瘤队列中筛查出来的。4例MSA患者中,男性3例,女性1例,平均年龄53岁(范围37 - 67岁)。3例发生于腭部,1例发生于颊部。临床表现通常为生长缓慢的无痛性肿块。肿瘤一般较小,最大直径0.7至1.8 cm(平均1.2 cm)。镜下,肿瘤无包膜,呈浸润性生长方式。肿瘤细胞体积小,具有温和的立方状和平扁状细胞学特征,形成微囊腔和腺管。腔内可见大量嗜碱性分泌物。肿瘤巢之间有纤维黏液样间质。免疫组化显示细胞角蛋白7、S - 100、SOX - 10、p63和波形蛋白弥漫性或部分阳性染色,p40、乳腺珠蛋白和平滑肌肌动蛋白阴性染色。Ki - 67增殖指数相对较低(1% - 3%)。荧光原位杂交(FISH)显示4例MSA病例均存在SS18基因重排,其中2例通过RNA靶向二代测序检测到MEF2C::SS18融合基因。4例患者均接受了手术切除,未进行任何辅助治疗。3例患者随访2至203个月。未发现肿瘤复发、转移或与疾病相关的死亡。涎腺MSA是一种新型罕见的低级别癌,具有独特且一致的组织形态学、免疫表型和分子改变。免疫组化染色和SS18分离FISH对形态不典型和高级别转化的肿瘤诊断有帮助。

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