Quattlebaum S Craig, Roby Brianne, Dishop Megan K, Said M Sherif, Chan Kenny
Department of Otolaryngology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO.
Department of Pathology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO.
Am J Otolaryngol. 2015 Nov-Dec;36(6):741-3. doi: 10.1016/j.amjoto.2015.05.005. Epub 2015 Jun 1.
Mammary analogue secretory carcinoma (MASC) is a recently described entity in the differential diagnosis of salivary gland tumors. It is notable for a characteristic t(12;15)(p13;q25) translocation that results in a unique fusion protein, ETV6-NTRK3. While several studies have retrospectively identified this translocation in cases previously diagnosed as a different salivary malignancy, there have been relatively few cases where this translocation was identified on initial pathology results, and fewer still in a pediatric population. We present a case of a 15 year old female with a slowly enlarging, painless, left facial mass. MRI demonstrated a cystic mass extending into the deep lobe of the parotid, and she underwent parotidectomy. The tumor cells stained positive for S100 and CK19. ETV6 translocation was present, confirming the diagnosis. Mammary analogue secretory carcinoma is a recently described tumor of the salivary glands, which often masquerades as more common primary salivary gland tumors and cysts. More research is needed to characterize the typical behavior of this neoplasm and the optimal treatment regimen. With identification of its characteristic translocation, mammary analogue secretory carcinoma can be easily differentiated from its more prevalent counterparts, and should therefore remain within the differential of the pathologist and head and neck surgeon.
乳腺样分泌癌(MASC)是唾液腺肿瘤鉴别诊断中最近描述的一种实体。其显著特征是具有特征性的t(12;15)(p13;q25)易位,该易位导致一种独特的融合蛋白ETV6-NTRK3。虽然有几项研究回顾性地在先前诊断为不同唾液腺恶性肿瘤的病例中发现了这种易位,但在初始病理结果中发现这种易位的病例相对较少,在儿科人群中更少。我们报告一例15岁女性,其左侧面部有一个缓慢增大、无痛的肿块。MRI显示一个囊性肿块延伸至腮腺深叶,她接受了腮腺切除术。肿瘤细胞S100和CK19染色呈阳性。存在ETV6易位,从而确诊。乳腺样分泌癌是唾液腺最近描述的一种肿瘤,它常常伪装成更常见的原发性唾液腺肿瘤和囊肿。需要更多研究来明确这种肿瘤的典型行为和最佳治疗方案。通过识别其特征性易位,乳腺样分泌癌可以很容易地与其更常见的对应物区分开来,因此应始终保留在病理学家和头颈外科医生的鉴别诊断范围内。