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孕期甲状腺髓样癌的超声表现导致2a型多发性内分泌腺瘤病的诊断

Sonographic Findings of Medullary Thyroid Carcinoma Leading to Diagnosis of Multiple Endocrine Neoplasia Type 2a during Pregnancy.

作者信息

Sherer David M, Dalloul Mudar, Salame Ghadir, Shah Tana, Serur Eli, Zinn Harry L, Abulafia Ovadia

机构信息

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.

出版信息

AJP Rep. 2011 Sep;1(1):59-64. doi: 10.1055/s-0031-1280572. Epub 2011 Jun 9.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ee3/3653543/0f43b6dd7103/ajpr01059-1.jpg

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