涎腺乳腺样分泌癌的临床病理分析

Clinicopathologic features of mammary analogue secretory carcinoma of salivary glands

目的：探讨涎腺乳腺样分泌癌（ MASC）的临床病理特征、诊断及鉴别诊断方法。方法收集南京军区南京总医院1997—2014年17例涎腺MASC（10例为会诊病例），另选取9例腺泡细胞癌及18例腺样囊性癌作为对照。采用免疫组织化学EnVision法检测S-100蛋白、SOX10、GATA3和CD117的表达情况，并应用荧光原位杂交技术检测ETV6-NTRK3融合基因。结果患者年龄27～74岁，平均年龄47岁。肿瘤组织镜下均呈浸润性生长，可见分叶状、囊性乳头状、微囊、腺管状和实性巢状结构；肿瘤组织管腔和微囊内充满过碘酸-雪夫染色阳性分泌物，部分类似甲状腺滤泡；未观察到坏死、神经或血管侵犯。涎腺MASC的S-100蛋白、SOX10均弥漫性强阳性（17／17），GATA3（3／17）和CD117（4／17）部分阳性。17例涎腺MASC中12例成功检测ETV6-NTRK3融合基因，其中10例阳性，2例阴性。结论综合考虑S-100蛋白、SOX10和CD117表达水平对MASC的诊断及鉴别诊断有较大价值，ETV6-NTRK3基因融合亦可作为重要的诊断参考。

Objective To investigate the clinicopathological features of mammary analogue secretory carcinoma （MASC） of salivary glands, and its diagnosis, differential diagnosis, immunohistochemistry and molecular pathology.Methods 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.Results 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.Conclusions 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.