Zhang X P, Ni H, Wang X, Chen H, Shi S S, Yu B, Zhou X J, Rao Q
Department of Pathology, Medicine School of Nanjing University/Nanjing Jinling Hospital, Nanjing 210002, China.
Zhonghua Bing Li Xue Za Zhi. 2017 Jan 8;46(1):34-37. doi: 10.3760/cma.j.issn.0529-5807.2017.01.008.
To investigate the clinicopathological features of mammary analogue secretory carcinoma (MASC) of salivary glands, and its diagnosis, differential diagnosis, immunohistochemistry and molecular pathology. Seventeen cases of MASC were enrolled, with 9 cases of salivary acinar cell carcinoma and 18 cases of adenoid cystic carcinoma as control groups from Nanjing General Hospital from 1997 to 2014 were included in this retrospective study, combined with immunohistochemistry and molecular detection of ETV6-NTRK3 gene fusion. All cases were histologically reviewed with immunohistochemical staining (EnVision) for S-100 protein, SOX10, GATA3, CD117 expression in each group. Fluorescence in situ hybridization (FISH) was used to detect the ETV6-NTRK3 gene fusion. The age of MASC patients ranged from 27 to 74 years with mean age of 47 and ratio of male and female was 4∶3. All cases showed infiltrative growth and diverse cytology and histology, including lobular (8 cases), cystic papillary (3 cases), cribriform mixed with papillary and glandular structures (6 cases) at various proportions. Some tumors of MASC also exhibited solid growth areas with occasional microcystic honeycombed pattern composed of small cysts merged into larger cysts resembling thyroid follicles. S-100 protein and SOX10 were strongly positive in all MASC cases (17/17). In addition, there was insignificant positivity for GATA3 (3/17) and CD117 (4/17). ETV6 gene fusion detection was informative in 12 MASC cases by FISH with 10 positive cases and 2 negative cases. Combined immunohistochemical positivity of S-100 protein, CD117 and SOX10 are useful in the diagnosis and differential diagnosis of MASC. FISH detection of ETV6-NTRK3 fusion offers an additional molecular diagnostic marker for the diagnosis.
探讨涎腺乳腺型分泌癌(MASC)的临床病理特征及其诊断、鉴别诊断、免疫组化和分子病理学。本回顾性研究纳入了17例MASC病例,选取1997年至2014年来自南京总医院的9例涎腺腺泡细胞癌和18例腺样囊性癌作为对照组,同时进行免疫组化及ETV6-NTRK3基因融合的分子检测。对所有病例进行组织学复查,采用免疫组化染色(EnVision法)检测每组中S-100蛋白、SOX10、GATA3、CD117的表达情况。采用荧光原位杂交(FISH)检测ETV6-NTRK3基因融合情况。MASC患者年龄为27至74岁,平均年龄47岁,男女比例为4∶3。所有病例均表现为浸润性生长,细胞形态学和组织学多样,包括小叶状(8例)、囊状乳头状(3例)、筛状伴乳头状和腺管状结构混合(6例),比例各异。部分MASC肿瘤还表现为实性生长区域,偶尔可见微囊状蜂窝状结构,由小囊肿融合成大囊肿,类似甲状腺滤泡。所有MASC病例(17/17)中S-100蛋白和SOX10均呈强阳性。此外,GATA3(3/17)和CD117(4/17)呈弱阳性。通过FISH检测,12例MASC病例中ETV6基因融合检测结果有意义,其中10例阳性,2例阴性。S-100蛋白、CD117和SOX10联合免疫组化阳性有助于MASC的诊断和鉴别诊断。FISH检测ETV6-NTRK3融合为诊断提供了额外的分子诊断标志物。