Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report.
Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report.
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DOI：
10.1186/s40792-017-0408-x
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发表时间：
2017-12-28
影响因子：
0.8
通讯作者：
Kikumori T
中科院分区：
文献类型：
--
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
遗传性嗜铬细胞瘤和副神经节瘤（PPGL）基因检测的最新进展有助于诊断。遗传性PPGL的临床特征因突变基因的类型而异。在罕见的基因突变的情况下，仍然很难指定特异性症状。在这里，我们报告的情况下，同时双边嗜铬细胞瘤和副神经节瘤与新的MYC相关因子X（MAX）基因突变。一名24岁女性患有多汗症和高血压。她的尿检显示高浓度的正甲肾上腺素和香草扁桃酸。增强CT显示右肾上腺、左肾上腺和左肾门三个增强肿块。她被诊断为PPGL。由于123 I-间碘苄胍造影显示左肾上腺肿块和左肾门肿块积聚，而不是右肾上腺肿块，我们进行了腹腔镜左肾上腺切除术和左肾门肿块摘除术，以保留右肾上腺皮质功能。然而，她的症状复发后不久，手术可能是由于揭开活动的权利嗜铬细胞瘤。第二次手术切除右肾上腺后，儿茶酚胺水平降至正常范围。她的基因检测表明MAX基因中存在新的种系突变（c.70_73 del AAAC/p.Lys24fs*40）。 MAX种系突变是最近发现的一种罕见的遗传性PPGL的原因。该患者MAX基因缺失突变未见报道。在双侧嗜铬细胞瘤的情况下，应考虑每个患者的遗传背景决定手术指征。由于其他类型恶性肿瘤的可能性，密切随访对于MAX突变携带者至关重要。
Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). The clinical characteristics of hereditary PPGL are varying among the types of mutational genes. It is still difficult to specify the pathognomonic symptoms in the case of rare genetic mutations. Here, we report the case of synchronous bilateral pheochromocytomas and paraganglioma with novel MYC associated factor X (MAX) gene mutation. A 24-year-old female had hyperhidrosis and hypertension. Her urine test showed high normetanephrine and vanillylmandelic acid. Enhanced computed tomography revealed three enhanced masses in right adrenal gland, left adrenal gland, and left renal hilus. She was diagnosed with PPGL. Because 123I-metaiodobenzylguanidine scintigraphy indicated the accumulations in the left adrenal gland mass and the left renal hilus mass and not in the right adrenal gland mass, we performed laparoscopic left adrenalectomy and extirpation of the left renal hilus mass to preserve the right adrenocortical function. However, her symptoms recurred shortly after the operation presumably due to unveiling of the activity of the right pheochromocytoma. Following right adrenalectomy as the second operation, the catecholamine levels declined to normal range. Her genetic testing indicated the novel germline mutation in MAX gene (c.70_73 del AAAC/p.Lys24fs*40). MAX germline mutation is recently identified as a rare cause of hereditary PPGL. The deletion mutation in MAX gene in this patient has never reported before. In the case of bilateral pheochromocytomas, the surgical indication should be decided considering each patient’s genetic background. Due to the possibility for other types of malignant tumors, close follow-up is essential for MAX mutation carriers.