1 Division of Endocrinology, Department of Medicine, University of Florida , Gainesville, Florida.
2 Knowledge and Evaluation Research Unit (KER-ENDO), Mayo Clinic , Rochester, Minnesota.
Thyroid. 2017 Oct;27(10):1332-1334. doi: 10.1089/thy.2016.0536. Epub 2017 Sep 5.
We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, four family members had evidence of large pheochromocytomas. One patient was found to have micromedullary thyroid cancer at 79 years of age. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. Medullary thyroid cancer is a less common part of the syndrome when compared with other RET mutations.
我们描述了一个由 D631Y RET 突变引起的多发性内分泌肿瘤 2A（MEN2A）家族，该突变导致了非典型表型。该家族的先证者为一名 24 岁的男性，患有复发性间变性室管膜瘤，偶然发现 D631Y RET 突变。在首次评估时，有 4 名家族成员有大型嗜铬细胞瘤的证据。一名 79 岁的患者被发现患有微髓样甲状腺癌。这些患者均无原发性甲状旁腺功能亢进症。由 D631Y RET 突变引起的 MEN2A 患者最常见的表现为嗜铬细胞瘤。与其他 RET 突变相比，髓样甲状腺癌是该综合征中较为少见的一部分。
