Sherer David M, Dalloul Mudar, Salame Ghadir, Shah Tana, Serur Eli, Zinn Harry L, Abulafia Ovadia
Divisions of Maternal-Fetal Medicine and Gynecologic Oncology, Departments of Obstetrics and Gynecology and Radiology, State University of New York, Downstate Medical Center, Brooklyn, New York.
AJP Rep. 2011 Sep;1(1):59-64. doi: 10.1055/s-0031-1280572. Epub 2011 Jun 9.
Multiple endocrine neoplasia (MEN) type 2a (Sipple's syndrome) is characterized by medullary thyroid carcinoma and pheochromocytoma, and in a smaller percentage of cases, multiglandular parathyroid hyperplasia. This autosomal-dominant syndrome is due to a mutation in the rearranged during transfection (RET) proto-oncogene located on chromosome 10cen-10q11.2 and rarely complicates pregnancy. We present an unusual case in a patient with an enlarged thyroid with sonographic findings characteristic of thyroid cancer, which led to diagnosis and subsequent management of RET proto-oncogene-positive MEN type 2a complicating pregnancy.
2a型多发性内分泌腺瘤病(MEN,又称西普尔综合征)的特征为甲状腺髓样癌和嗜铬细胞瘤,少数情况下还伴有多腺体甲状旁腺增生。这种常染色体显性遗传综合征是由位于10号染色体短臂着丝粒至10q11.2区域的转染重排(RET)原癌基因突变引起的,很少在孕期出现并发症。我们报告了一例特殊病例,患者甲状腺肿大,超声检查结果具有甲状腺癌特征,最终诊断为RET原癌基因阳性的2a型MEN,并对其孕期并发症进行了后续处理。