由TMEM127突变引起的嗜铬细胞瘤-基因检测对临床决策的重要性。

Q2 Medicine
Sílvia Cristina de Sousa Paredes, Sara Gomes de Campos Lopes, Isabel Maria Beleza Ferraz Torres, Marta de Lurdes Fernandes Alves
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引用次数: 1

摘要

既往健康的53岁女性,在每日搏动性双侧额部头痛和阵发性疲劳、心悸和出汗的检查中被诊断为新发动脉高血压。检测到高尿肾上腺素和腹部磁共振图像证实两个结节性双侧肾上腺病变和左髂局灶性病变。18F-FDG-PET/CT(氟脱氧葡萄糖正电子发射断层扫描/计算机断层扫描)扫描显示肾上腺病变轻度至中度摄取和髂骨轻度摄取,而123i -偏氧苄基胍扫描显示仅在右侧肾上腺摄取。ct扫描证实右肾上腺的非均匀结节性病变疑似嗜铬细胞瘤和髂非特异性硬化性病变。在症状消退和尿肾上腺素恢复正常后行右侧肾上腺切除术。组织学证实为嗜铬细胞瘤,后来检测到TMEM127基因突变。本病例强调了嗜铬细胞瘤基因检测的重要性,以便更好地指导这些患者的管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pheochromocytoma Due to TMEM127 Mutation - The Importance of Genetic Testing for Clinical Decision.

Apreviously healthy 53-year-old woman presented with new onset arterial hypertension diagnosed during workup for daily pulsatile bilateral frontal headaches and paroxysmal episodes of fatigue, palpitations and sweating. High urinary metanephrines were detected and an abdominal magnetic resonance image evidenced two nodular bilateral adrenal lesions and a left iliac focal lesion. 18F-FDG-PET/CT (fluorodeoxyglucose-positron emission tomography/computed tomography) scanning revealed mild-to-moderate uptake in both adrenal lesions and mild uptake in the iliac bone, whereas 123I-metaiodobenzylguanide scintigraphy revealed uptake only in the right adrenal. CT-scan confirmed the heterogeneous nodular lesion on the right adrenal gland as suspicious for pheochromocytoma and a non-specific sclerotic lesion in the iliac. A right adrenalectomy was performed with posterior resolution of symptoms and normalisation of urinary metanephrines. Histology confirmed a pheochromocytoma and later a mutation of the TMEM127 gene was detected. The present case highlights the importance of genetic testing for pheochromocytoma in order to better guide the management of these patients.

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来源期刊
European Endocrinology
European Endocrinology Medicine-Endocrinology, Diabetes and Metabolism
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