Woo Jennifer, Seethala Raja R, Sirintrapun S Joseph
School of Medicine, Wake Forest University, Winston-Salem, NC, USA,
Head Neck Pathol. 2014 Jun;8(2):194-7. doi: 10.1007/s12105-013-0481-9. Epub 2013 Aug 7.
We report the first case of mammary analogue secretory carcinoma (MASC) arising as a secondary malignancy in a 14 years old child with a history of atypical teratoid rhabdoid tumor (ATRT). Although MASC and ATRT are both rare malignancies, they do not share the same genetic and molecular profiles. MASC is a salivary malignancy characterized by a t(12;15)(p13;q25) translocation, resulting in an ETV6-NTRK3 fusion product encoding for a tyrosine kinase. ATRT is a highly malignant pediatric tumor characterized by a chromosome 22 mutation in the hSNF5/INI1 gene, encoding for a chromatin remodeling protein. Additionally, although mucoepidermoid carcinoma has been described as a secondary malignancy post-therapy for head and neck tumors, MASC has only been reported as a primary malignancy. Our patient was treated with a complete resection of his left sided ATRT at age 3 followed postoperatively with chemoradiotherapy. At age 14 he underwent a parotidectomy for his 1 year history of a left sided preauricular mass and was subsequently diagnosed with MASC. We not only report a case of two rare malignancies in one patient, but also the first case of MASC arising as a secondary malignancy.
我们报告了首例乳腺样分泌性癌(MASC),该病例发生于一名14岁有非典型畸胎样横纹肌样瘤(ATRT)病史的儿童,为继发性恶性肿瘤。尽管MASC和ATRT都是罕见的恶性肿瘤,但它们的基因和分子特征并不相同。MASC是一种唾液腺恶性肿瘤,其特征为t(12;15)(p13;q25)易位,产生一种编码酪氨酸激酶的ETV6-NTRK3融合产物。ATRT是一种高度恶性的儿童肿瘤,其特征为hSNF5/INI1基因的22号染色体突变,该基因编码一种染色质重塑蛋白。此外,尽管黏液表皮样癌已被描述为头颈部肿瘤治疗后的继发性恶性肿瘤,但MASC仅被报道为原发性恶性肿瘤。我们的患者在3岁时接受了左侧ATRT的完整切除,并在术后接受了放化疗。14岁时,他因左侧耳前肿物1年病史接受了腮腺切除术,随后被诊断为MASC。我们不仅报告了一名患者患有两种罕见恶性肿瘤的病例,还报告了首例MASC作为继发性恶性肿瘤出现的病例。