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Mammary Analogue Secretory Carcinoma of Salivary Glands With High-grade Transformation: Report of 3 Cases With the ETV6-NTRK3 Gene Fusion and Analysis of TP53, β-Catenin, EGFR, and CCND1 Genes.

具有高级别转化的唾液腺乳腺样分泌型癌:伴有ETV6-NTRK3基因融的3例报告及TP53、β-Catenin、EGFR和CCND1基因分析

Skálová A,Vanecek T,Majewska H,Laco J,Grossmann P,Simpson RH,Hauer L,Andrle P,Hosticka L,Branžovský J,Michal M

Abstract

Mammary analogue secretory carcinoma of salivary gland origin (MASC) is a recently described tumor resembling secretory carcinoma of the breast characterized by strong S-100 protein, mammaglobin, and vimentin immunoexpression and which harbors a t(12;15) (p13;q25) translocation resulting in ETV6-NTRK3 fusion product. Histologically, conventional MASC displays bland histomorphology and a lobulated growth pattern and is often composed of microcystic, tubular, and solid structures with abundant eosinophilic homogenous or bubbly secretions. Colloid-like secretory material stains positively for periodic acid-Schiff with and without diastase as well as for Alcian Blue. We present for the first time, 3 patients with MASC of the parotid gland in which high-grade (HG) transformation developed in each case characterized by an accelerated clinical course and poor outcome. The HG component revealed strong membrane staining for EGFR and β-catenin, cytoplasmic/nuclear staining for S-100 protein, and nuclear staining for cyclin-D1, whereas HER-2/neu was absent. Analysis for the presence of the ETV6-NTRK3 fusion transcript revealed positivity in both HG and low-grade component of MASC in 2 of the 3 studied cases. The tumor in case 2 was negative in both its elements for the t(12;15) translocation, but ETV6 gene rearrangement was detected in both components in all 3 cases. Analysis of TP53 and CTNNB1 gene mutations in the HG component of MASCs as well as detection of copy number aberration of EGFR and CCND1 gene did not harbor any abnormalities. All 3 patients with HG-transformed MASC died of disseminated disease within 2 to 6 years after diagnosis. Recognizing HG-transformed MASC and testing for ETV6 rearrangement may be of potential value in patient treatment, because the presence of the ETV6-NTRK3 translocation may represent a therapeutic target in MASC.

摘要

唾液腺发生的乳腺样分泌型癌(MASC)是最近描述的一种像乳腺分泌型癌的肿瘤,其特征是S-100蛋白,乳球蛋白和波形蛋白强表达,并伴有t(12;15) (p13;q25)易位而出现ETV6-NTRK3融合产物。组织学上,普通型唾液腺乳腺样分泌型癌表现为温和的组织学形态、小叶状生长方式,并且常由伴有丰富均一嗜酸性或空泡状分泌物的小囊状、管状和实性结构构成。胶质样分泌物表现为伴或不伴淀粉酶消化的PAS染色阳性、阿尔辛蓝染色阳性。我们首次报道出3例伴高级别转化的腮腺乳腺样分泌型癌,每例均具较快变化的临床病程和不良预后。高级别转化的部分显示EGFR、β-Catenin胞膜强阳性,S-100胞浆和核阳性,Cyclin-D1核阳性,而HER-2/neu缺失。3例中有2例的高级别转化部分和低级别部分ETV6-NTRK3融合蛋白阳性表达,另1例高级别转化的部分和低级别部分ETV6-NTRK3融合蛋白阴性表达,但3例的两种成分中均检测出ETV6基因的重排。高级别转化的部分显示TP53和CTNNB1基因突变,EGFR基因拷贝数的异常,而CCND1基因未显示异常。在随访中,所有3例伴有高级别转化的唾液腺乳腺样分泌型癌均在确诊后2至6年死于肿瘤扩散。由于ETV6-NTRK3易位的出现可能是MASC靶向治疗的位点,因此认识伴有高级别转化的唾液腺乳腺样分泌型癌和检测ETV6基因的重排,可能对患者的治疗具有潜在重要意义。

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