A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma.
A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma.
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单侧嗜铬细胞瘤的患者中，一种新型的，可能的致病性最大种系变体。
DOI：
10.1210/jendso/bvab085
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发表时间：
2021-08-01
影响因子：
4.1
通讯作者：
Cuevas-Ramos D
中科院分区：
文献类型：
--
作者：
Lam-Chung CE;Rodríguez LL;Vázquez JA;Chávarri-Guerra Y;Arízaga-Ramírez R;Antonio OF;De Anda González J;López-Hernández MA;Weitzel JN;Castillo D;Gómez-Pérez FJ;Cuevas-Ramos D
遗传性MYC相关因子X（MAX）基因致病性变体（PV）可增加成人和儿童嗜铬细胞瘤（PCC）和/或副神经节瘤（PGLs）的风险。这种突变的临床经验很少。本报告强调了一个重要的方法。进行临床评估，包括血液化学、成像研究和基因检测。一名38岁的西班牙裔女性于2015年被诊断为PCC，接受肾上腺切除术治疗，并转诊至内分泌科诊所。值得注意的是，她在3年前向她的初级保健医生主诉左胁腹疼痛、间歇性出汗和全颅严重头痛。我们在多种降压治疗方案中证实了重度高血压（180/100 mm Hg）。生化和放射学研究检查显示，血浆代谢物浓度高，为255 pg/mL（正常范围，<65 pg/mL），血浆代谢物浓度正常，为240 pg/mL（正常范围，<196 pg/mL）。 腹部非增强计算机断层扫描显示左肾上腺有一个4.2 × 4.3 × 4.9 cm的圆形不均匀增强，以及一个2 mm的非梗阻性左肾结石。 作出继发性高血压的推定诊断。经药物治疗后，进行腹腔镜左肾上腺切除术，并确认诊断嗜铬细胞瘤。根据她的年龄、家族史和高度怀疑遗传病因，进行了基因检测，发现存在一种新的可能致病的变体，涉及MAX基因中的剪接共有序列，命名为c0.64 - 2A> G。 突出显示MAX PV相关疾病和副神经节瘤的表型。本文报告了新的c0.64 - 2A> G突变，在类似病例的诊断检查中应予以考虑。
Inherited MYC-associated factor X (MAX) gene pathogenic variants (PVs) increase risk for pheochromocytomas (PCCs) and/or paragangliomas (PGLs) in adults and children. There is little clinical experience with such mutations. This report highlights an important approach. Clinical assessment, including blood chemistry, imaging studies, and genetic testing were performed. A 38-year-old Hispanic woman was diagnosed with PCC in 2015, treated with adrenalectomy, and referred to endocrinology clinic. Notably, she presented to her primary care physician 3 years earlier complaining of left flank pain, intermittent diaphoresis, and holocranial severe headache. We confirmed severe hypertension (180/100 mm Hg) over multiple antihypertensive regimens. Biochemical and radiological studies workup revealed high plasma metanephrine of 255 pg/mL (normal range, < 65 pg/mL) and plasma normetanephrine of 240 pg/mL (normal range, < 196 pg/mL). A noncontrast computed tomography scan of the abdomen revealed a 4.2 × 4.3 × 4.9-cm, round-shaped and heterogenous contrast enhancement of the left adrenal gland, and a 2-mm nonobstructive left kidney stone. A presumptive diagnosis of secondary hypertension was made. After pharmacological therapy, laparoscopic left adrenalectomy was performed and confirmed the diagnosis of pheochromocytoma. Based on her age, family history, and a high suspicion for genetic etiology, genetic testing was performed that revealed the presence of a novel likely pathogenic variant involving a splice consensus sequence in the MAX gene, designated c0.64-2A > G. The phenotype of MAX PV-related disease and paraganglioma are highlighted. The novel c0.64-2A > G mutation is reported here and should be considered in the diagnostic workup of similar cases.
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影响因子：
0.8
作者：
Shibata M;Inaishi T;Miyajima N;Adachi Y;Takano Y;Nakanishi K;Takeuchi D;Noda S;Aita Y;Takekoshi K;Kodera Y;Kikumori T
通讯作者：
Kikumori T
影响因子：
4
作者：
Curras-Freixes, Maria;Inglada-Perez, Lucia;Robledo, Mercedes
通讯作者：
Robledo, Mercedes
影响因子：
11.5
作者：
Burnichon, Nelly;Cascon, Alberto;Robledo, Mercedes
通讯作者：
Robledo, Mercedes
影响因子：
5.4
作者：
Omura, M;Saito, J;Nishikawa, T
通讯作者：
Nishikawa, T
实验室和临床医学的嗜铬细胞瘤和paraganglioma的风险分层。
影响因子：
3.9
作者：
Kimura N;Takekoshi K;Naruse M
通讯作者：
Naruse M