Dettloff Jennifer, Seethala Raja R, Stevens Todd M, Brandwein-Gensler Margaret, Centeno Barbara A, Otto Kristen, Bridge Julia A, Bishop Justin A, Leon Marino E
Department of Pathology and Cell Biology, Morsani College of Medicine, University of South Florida, Tampa, FL, 33612, USA.
Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, 15213, USA.
Head Neck Pathol. 2017 Jun;11(2):124-130. doi: 10.1007/s12105-016-0741-6. Epub 2016 Jul 11.
Salivary gland-type tumors have been rarely described in the thyroid gland. Mammary Analog Secretory Carcinoma (MASC) is a recently defined type of salivary gland carcinoma characterized by a t(12;15)(p13;q25) resulting in an ETV6-NTRK3 fusion gene. We report 3 cases of MASC involving the thyroid gland without clinical evidence of a salivary gland or breast primary; the clinico-pathologic characteristics are reviewed. Assessment for rearrangement of the ETV6 (12p13) locus was conducted by fluorescence in situ hybridization (FISH) on representative FFPE sections using an ETV6 break apart probe (Abbott Molecular, Des Plaines, IL, USA). The patients were two females (52 and 55 years-old) and 1 male (74 years-old). The tumors were poorly circumscribed solid white tan nodules involving the thyroid. Histologically, they were invasive and showed solid, microcystic, cribriform, and tubular growth patterns composed of variably bland polygonal eosinophilic cells with vesicular nuclear chromatin and conspicuous nucleoli. All three cases showed metastasis to lymph nodes; one case showed lateral neck involvement. The tumor cells were positive for S100 and mammaglobin. GATA-3 and PAX-8 were positive in 2 cases, one of which only focally so. All three cases were negative for TTF-1 and thyroglobulin. Rearrangement of the ETV6 locus was confirmed in all cases and a diagnosis of MASC rendered for each case. A site of origin distinct from the thyroid gland was not identified, with a median follow up of 24 months. MASC may rarely involve the thyroid gland. The origin of these lesions is unknown; while an origin from ectopic salivary gland-type cells is entertained, a metastatic origin from an occult primary cannot be definitively excluded at this time. Given the histologic (follicular-like microcystic pattern with colloid-like secretions and papillary pattern), immunophenotypic (PAX-8), and even molecular overlap, MASC can be mistaken for papillary thyroid carcinoma and should be considered in the differential diagnosis of a thyroid mass.
涎腺型肿瘤在甲状腺中鲜有报道。乳腺类似物分泌癌(MASC)是一种最近定义的涎腺癌类型,其特征为t(12;15)(p13;q25),导致ETV6-NTRK3融合基因。我们报告3例累及甲状腺的MASC病例,临床上无涎腺或乳腺原发灶的证据;并对其临床病理特征进行了回顾。使用ETV6分离探针(美国伊利诺伊州德斯普兰斯市雅培分子公司),通过荧光原位杂交(FISH)对代表性的福尔马林固定石蜡包埋(FFPE)切片进行ETV6(12p13)基因座重排评估。患者为2名女性(分别为52岁和55岁)和1名男性(74岁)。肿瘤为边界不清的实性灰白色结节,累及甲状腺。组织学上,肿瘤具有侵袭性,呈实性、微囊状、筛状和管状生长模式,由形态不一的温和多边形嗜酸性细胞组成,细胞核染色质呈泡状,核仁明显。所有3例均有淋巴结转移;1例累及侧颈部。肿瘤细胞S100和乳珠蛋白呈阳性。GATA-3和PAX-8在2例中呈阳性,其中1例仅局灶阳性。所有3例TTF-1和甲状腺球蛋白均为阴性。所有病例均证实有ETV6基因座重排,每例均诊断为MASC。随访中位时间为24个月,未发现甲状腺以外的原发部位。MASC可能很少累及甲状腺。这些病变的起源尚不清楚;虽然考虑起源于异位涎腺型细胞,但目前不能明确排除隐匿原发灶转移的可能性。鉴于其组织学(具有胶样分泌物的滤泡样微囊状模式和乳头状模式)、免疫表型(PAX-8)甚至分子特征的重叠,MASC可能被误诊为甲状腺乳头状癌,在甲状腺肿块的鉴别诊断中应予以考虑。