Abstract：
BACKGROUND: Mammary analogue secretory carcinoma (MASC) is a newly recognized salivary gland tumor that harbors a characteristic balanced chromosomal translocation t (12; 15) (p13; q25) resulting in an ETV6-NTRK3 fusion gene.
METHODS: Retrospective study of 111 salivary gland carcinomas revealed 37 cases with secretory features and growth patterns resembling secretory carcinoma of breast. These 37 cases were originally diagnosed as acinic cell carcinoma, adenocarcinoma not otherwise specified and cystadenocarcinoma. Positive immunostaining for S-100 protein and mammaglobin, followed by detection of ETV6 gene rearrangement by FISH and/or ETV6-NTRK3 fusion transcript by RT-PCR were used to identify MASCs.
RESULTS: In the cohort of 37 salivary carcinomas with secretory features we have identified 10 cases of MASC. All 10 MASCs were positive for mammaglobin, S-100 protein and SOX10, while staining for DOG1 and p63 protein were mostly absent. In 7/10 cases, both FISH and RT-PCR were positive while three remaining cases showed break of ETV6 gene by FISH analysis and the RT-PCR was negative. Clinical follow-up data were obtained in 6 out of 10 patients with MASC. In 3 patients cervical lymph node metastases developed, one patient with high grade transformed MASC died with multiple distant bone metastases, and local recurrence was observed in three patients.
CONCLUSIONS: Our clinicopathological data are in keeping with previous studies; in most cases, MASC is a low-grade malignancy with overall favorable prognosis. In rare cases, however, MASC with high-grade transformation may behave aggressively, and these patients could benefit from targeted biological treatment using tyrosine kinase inhibitors.
METHODS: Retrospective study of 111 salivary gland carcinomas revealed 37 cases with secretory features and growth patterns resembling secretory carcinoma of breast. These 37 cases were originally diagnosed as acinic cell carcinoma, adenocarcinoma not otherwise specified and cystadenocarcinoma. Positive immunostaining for S-100 protein and mammaglobin, followed by detection of ETV6 gene rearrangement by FISH and/or ETV6-NTRK3 fusion transcript by RT-PCR were used to identify MASCs.
RESULTS: In the cohort of 37 salivary carcinomas with secretory features we have identified 10 cases of MASC. All 10 MASCs were positive for mammaglobin, S-100 protein and SOX10, while staining for DOG1 and p63 protein were mostly absent. In 7/10 cases, both FISH and RT-PCR were positive while three remaining cases showed break of ETV6 gene by FISH analysis and the RT-PCR was negative. Clinical follow-up data were obtained in 6 out of 10 patients with MASC. In 3 patients cervical lymph node metastases developed, one patient with high grade transformed MASC died with multiple distant bone metastases, and local recurrence was observed in three patients.
CONCLUSIONS: Our clinicopathological data are in keeping with previous studies; in most cases, MASC is a low-grade malignancy with overall favorable prognosis. In rare cases, however, MASC with high-grade transformation may behave aggressively, and these patients could benefit from targeted biological treatment using tyrosine kinase inhibitors.
摘要：
背景：乳腺类似物分泌癌（MASC）是一种新发现的唾液腺肿瘤，具有特征性的平衡染色体易位t（12;15）（p13;q25），导致ETV6-NTRK3融合基因。
方法：对111例涎腺癌的回顾性研究显示37例具有类似乳腺分泌性癌的分泌特征和生长模式。这37例最初被诊断为腺泡细胞癌，未指明的腺癌和囊腺癌。S-100蛋白和乳腺球蛋白免疫染色阳性，然后通过FISH检测ETV6基因重排和/或通过RT-PCR检测ETV6-NTRK3融合转录本用于鉴定MASCs。
结果：在37例具有分泌特征的唾液腺癌的队列中，我们确定了10例MASC。10个MSCs均为乳腺珠蛋白阳性,S-100蛋白和SOX10，而DOG1和p63蛋白的染色大多不存在。在7/10的情况下，FISH和RT-PCR均为阳性，其余3例通过FISH分析显示ETV6基因断裂，RT-PCR为阴性。10例MASC患者中有6例获得了临床随访数据。3例患者发生颈淋巴结转移，一名高度转化的MASC患者死于多发远处骨转移，3例患者出现局部复发。
结论：我们的临床病理数据与以前的研究一致；在大多数情况下，MASC是一种低度恶性肿瘤，总体预后良好。在极少数情况下,然而,具有高级转化的MASC可能表现得很激进，这些患者可以从使用酪氨酸激酶抑制剂的靶向生物治疗中获益。
方法：对111例涎腺癌的回顾性研究显示37例具有类似乳腺分泌性癌的分泌特征和生长模式。这37例最初被诊断为腺泡细胞癌，未指明的腺癌和囊腺癌。S-100蛋白和乳腺球蛋白免疫染色阳性，然后通过FISH检测ETV6基因重排和/或通过RT-PCR检测ETV6-NTRK3融合转录本用于鉴定MASCs。
结果：在37例具有分泌特征的唾液腺癌的队列中，我们确定了10例MASC。10个MSCs均为乳腺珠蛋白阳性,S-100蛋白和SOX10，而DOG1和p63蛋白的染色大多不存在。在7/10的情况下，FISH和RT-PCR均为阳性，其余3例通过FISH分析显示ETV6基因断裂，RT-PCR为阴性。10例MASC患者中有6例获得了临床随访数据。3例患者发生颈淋巴结转移，一名高度转化的MASC患者死于多发远处骨转移，3例患者出现局部复发。
结论：我们的临床病理数据与以前的研究一致；在大多数情况下，MASC是一种低度恶性肿瘤，总体预后良好。在极少数情况下,然而,具有高级转化的MASC可能表现得很激进，这些患者可以从使用酪氨酸激酶抑制剂的靶向生物治疗中获益。
