涎腺类乳腺分泌性癌9例临床病理观察

Clinicopathological Features of Mammary Analogue Secretory Carcinoma of Salivary Glands

目的探讨涎腺类乳腺分泌性癌(MASC)的临床表现、病理学特征、分子特征及鉴别诊断。方法收集9例涎腺类乳腺分泌性癌病例的临床及随访资料,应用苏木精-伊红(HE)染色观察肿瘤的病理组织学特点,采用EnVision法免疫组化染色检测CK7、P63、Mammaglobin、S-100、SOX10、DOG1、MUC4及Ki-67等相关指标的表达。结果 9例患者中,男性6例,女性3例;年龄16~64岁,平均年龄37.4岁。7例患者病变位于腮腺,1例病变位于颌下腺,1例位于硬腭;9例均表现为孤立性肿块;肿瘤大小1.0~3.8 cm,平均直径2.5 cm。原发病例8例,复发转移病例1例。病理组织学表现,低倍镜下,肿瘤表现为边界清楚的结节状病灶,5例表现为瘤细胞排列成经典的管状、管状囊性和筛状结构,2例表现为囊性乳头状结构。高倍镜下,肿瘤细胞异型性小,核分裂罕见,无明显坏死。免疫组化显示所有肿瘤显示CK7强阳性,S-100和Mammaglobin中度至强阳性。在所有病例中均检测到SOX10弱阳性表达,在6例中MUC4灶性阳性。P63和DOG1均为阴性。Ki-67增殖指数8%~10%。FISH检测结果示8例存在ETV6基因易位。结论涎腺类乳腺分泌性癌是较为罕见的低度恶性涎腺型癌。病理形态学与其他涎腺病变类似,易误诊。免疫组化显示S-100及Mammaglobin阳性。ETV6基因易位是特征性的分子异常。

Objective To investigate the clinical manifestation,pathological features,molecular features and differential diagnosis of mammary analogue secretory carcinoma(MASC).Methods Clinical and follow-up data of 9 cases of MASC were collected.Hematoxylin-eosin(HE)staining was used to observe the histopathological features of tumors.EnVision immunohistochemical staining was used to detect the expression of CK7,P63,Mammaglobin,S-100,SOX10,DOG1,MUC4 and Ki-67.Results Among the 9 patients,6 were male and 3 were female,aged from 16 to 64 years,with a mean age of 37.4 years.In 7 patients,the lesion was located in the parotid gland,1 lesion in the submandibular gland,and 1 in the hard palate;all 9 cases showed a solitary mass.The tumor size ranged from 1.0 to 3.8 cm,with a mean diameter of 2.5 cm.There were 8 primary cases and 1 case of recurrence and metastasis.Histopathologically,at low magnification,the tumor appeared as a well-circumscribed nodular lesion,with tumor cells arranged in classical tubular,tubular cystic,and cribriform structures in 5 cases and cystic papillary structures in 2 cases.At high magnification,the tumor cells had little atypia and rare mitoses without obvious necrosis.Immunohistochemically,all tumors showed strong positivity for CK7 and moderate to strong positivity for S-100 and Mammaglobin.Weak positivity for SOX10 was detected in all cases and focal positivity for MUC4 in six.Both P63 and DOG1 were negative.The Ki-67 proliferation rate was about 8%-10%.The results of FISH showed that 8 cases had ETV6 gene translocation.Conclusion MASC is a rare low-grade malignant salivary gland carcinoma.Its histomorphology is similar to some other salivary gland lesions and is easily misdiagnosed.Immunohistochemistry showed that S-100 and mammaglobin were positive.ETV6 gene translocation is a characteristic molecular abnormality.