Parisien-La Salle Stefanie, Dumas Nadine, Rondeau Geneviève, Latour Mathieu, Bourdeau Isabelle
Division of Endocrinology, Department of Medicine, Research Center, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.
Division of Genetics, Department of Medicine, Research Center, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QC, Canada.
Front Endocrinol (Lausanne). 2019 Aug 20;10:546. doi: 10.3389/fendo.2019.00546. eCollection 2019.
Pheochromocytomas (PHEOs) are a rare cause of endocrine hypertension that requires genetic counseling since at least 30% of PHEOs are associated with a germline mutation in a susceptibility gene. Neurofibromatosis type 1, is amongst the 16 known causing genes for pheochromocytomas/paragangliomas. We report a case of a 73-year-old man with PHEO in whom genetic testing revealed a large pathogenic heterozygous deletion of 1.14 Mb encompassing the entire coding sequence of the gene while the patient showed no signs of clinical NF1.This case illustrates that the diagnosis of NF1 should not be excluded in patients with PHEO in the absence of clinical diagnosis of the disease and support that older patients with PHEO should also be offered genetic counseling.
嗜铬细胞瘤（PHEOs）是内分泌性高血压的罕见病因，由于至少30%的嗜铬细胞瘤与易感基因的种系突变有关，因此需要进行遗传咨询。1型神经纤维瘤病是已知的16种导致嗜铬细胞瘤/副神经节瘤的基因之一。我们报告一例73岁患有嗜铬细胞瘤的男性病例，基因检测显示有一个1.14 Mb的大型致病性杂合缺失，涵盖该基因的整个编码序列，而该患者没有临床1型神经纤维瘤病的体征。该病例表明，在没有该疾病临床诊断的嗜铬细胞瘤患者中，不应排除1型神经纤维瘤病的诊断，并支持应为老年嗜铬细胞瘤患者提供遗传咨询。
