Department of Endocrinology and Metabolism, Ankara Ataturk Education and Research Hospital, Bilkent, Ankara, Turkey.
Am J Med Sci. 2010 Jul;340(1):60-3. doi: 10.1097/MAJ.0b013e3181dfb245.
Familial nonmultiple endocrine neoplasia medullary thyroid cancer accounts for 10% to 15% of hereditary medullary thyroid carcinoma and is characterized by lack of accompanying endocrine or nonendocrine diseases. Simultaneous occurrence of medullary and papillary thyroid carcinoma in the same patient is rare and known as collision tumor. Here, the authors present familial nonmultiple endocrine neoplasia medullary thyroid cancer in 4 sisters, all having RET proto-oncogene polymorphism in exon 15 at codon 904 and 2 having additional polymorphism in exon 13 at codon 769. The index case had concomitant medullary and papillary thyroid carcinomas, which are suggested to be completely different tumors in terms of incidence, cell origin, histopathologic features and prognosis. Histopathologically, she also had Hashimoto thyroiditis in the remaining thyroid tissue and medullary thyroid carcinoma metastasis in 3 cervical lymph nodes. This case is the first in the literature to report coexistent familial nonmultiple endocrine neoplasia medullary thyroid cancer and papillary thyroid carcinoma related with a RET polymorphism (S904S in exon 15).
家族性非多发性内分泌肿瘤性甲状腺髓样癌占遗传性甲状腺髓样癌的 10%至 15%，其特征是缺乏伴随的内分泌或非内分泌疾病。同一患者中同时发生甲状腺髓样癌和甲状腺乳头状癌的情况很少见，被称为碰撞肿瘤。在此，作者报告了 4 姐妹的家族性非多发性内分泌肿瘤性甲状腺髓样癌，她们均在第 15 外显子的 904 密码子和第 2 外显子的 769 密码子处存在 RET 原癌基因多态性，其中 2 人还存在额外的多态性。该指数病例同时患有甲状腺髓样癌和甲状腺乳头状癌，这两种肿瘤在发病率、细胞起源、组织病理学特征和预后方面均有所不同。组织病理学上，她的剩余甲状腺组织中还存在桥本甲状腺炎，在 3 个颈部淋巴结中存在甲状腺髓样癌转移。该病例是文献中首例报道与 RET 多态性（第 15 外显子的 S904S）相关的同时存在家族性非多发性内分泌肿瘤性甲状腺髓样癌和甲状腺乳头状癌的病例。
