Abstract:
Secretory carcinoma (SC), also known as mammary analogue secretory carcinoma (MASC), is a rare salivary gland neoplasm with distinctive morphology that harbors a diagnostic ETV6 gene rearrangement. MASC was first described as a type of salivary gland neoplasm in 2010 and resembles breast secretory carcinoma. It is often mistaken for other neoplasms. It usually acts as an indolent tumor but can occasionally behave in an aggressive manner. We present a rare case of a patient with an aggressive SC/MASC of maxillary gingivobuccal sulcus with microcystic, solid and papillary patterns that showed ETV6 gene rearrangement by fluorescence in situ hybridization. Next-generation sequencing revealed t(12;15)(p13;q25) ETV6-NTRK3 translocation. Because SC/MASCs harbor the ETV6-NTRK3 translocation, molecular studies and immunostains are crucial to confirm the diagnosis and direct therapy.
摘要:
分泌性癌(SC),也被称为乳腺类似物分泌癌(MASC),是一种罕见的唾液腺肿瘤,具有独特的形态,具有诊断性ETV6基因重排。MASC在2010年首次被描述为一种唾液腺肿瘤,类似于乳腺分泌性癌。常被误认为是其他肿瘤。它通常表现为惰性肿瘤,但偶尔也可能表现为侵袭性。我们介绍了一例罕见的上颌龈沟伴微囊性SC/MASC患者,通过荧光原位杂交显示ETV6基因重排的固体和乳头状模式。下一代测序显示t(12;15)(p13;q25)ETV6-NTRK3易位。因为SC/MASCs有ETV6-NTRK3易位,分子研究和免疫染色是确定诊断和直接治疗的关键。