男性2A综合征的临床影像学表现及其遗传相关性：1例报告并文献复习

Q4 Medicine Radiology Case Reports Pub Date : 2025-04-01 Epub Date: 2025-01-25 DOI:10.1016/j.radcr.2025.01.005

Nishant Singhal MD , Shrikant Shukla MD , Nishant Mishra MD , Poonam Sherwani DNB, EDIR, DICRI, MICR , Jagapathi Babu MD, DM

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引用次数: 0

摘要

多发性内分泌瘤（Multiple endocrine Neoplasia， MEN）是一种罕见的遗传综合征，是由RET（重排在转感染中）种系突变引起的。MEN 2a发生频率较高，其次是FTC， MEN 2B发生频率较低。在这个病例报告中，我们提出了一个31岁的女性，她表现为颈部肿胀和高血压，并被诊断为双侧嗜铬细胞瘤和甲状腺髓样癌。遗传分析发现RET杂合突变，与MEN 2a外显子11一致。患者接受了双侧肾上腺切除术，并对甲状腺髓样癌进行了医疗处理。

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Clinico-radiological findings of men 2A syndrome and its genetic correlation: A case report with review of literature

Multiple endocrine Neoplasia (MEN) is a rare inherited syndrome that occurs due to the RET (rearranged in trans infection) germline mutation. MEN 2a is more frequent followed by FTC and MEN 2B occurs less frequently. In this case report, we present a case of a 31-year-old female who presented with neck swelling and hypertension and was diagnosed with bilateral pheochromocytomas and medullary carcinoma of the thyroid. Genetic analysis identified heterozygous RET mutation and was consistent with MEN 2 A in exon 11. The patient underwent bilateral adrenalectomy, and medical management was given for medullary thyroid carcinoma.

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来源期刊

Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging

CiteScore

1.10

自引率

0.00%

发文量

1074

审稿时长

30 days

期刊介绍： The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.