Hata Shinnosuke, Asano Mai, Tominaga Hiroyuki, Hamaguchi Masahide, Hongo Fumiya, Usui Takeshi, Konishi Eiichi, Fukui Michiaki
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Department of Endocrinology and Metabolism, Kyoto First Red Cross Hospital, Kyoto 605-0981, Japan.
Clin Pract. 2022 May 7;12(3):299-305. doi: 10.3390/clinpract12030035.
Recently, the genetic background of pheochromocytomas/paragangliomas (PPGLs) has been rapidly revealed. These tumors have been referred to as the “ten percent tumor”; however, the frequency of genetic variants of PPGLs has turned out to be more common than expected. PPGLs are potentially hereditary tumors and appear clinically sporadic. Here, we report a case of bilateral pheochromocytoma (PCC) with a variant in the MYC-associated factor X (MAX) gene (c.295 + 1G > A). A male patient was diagnosed with adrenal pheochromocytoma (PCC) and underwent a left adrenalectomy at the age of 40. A new tumor in the right adrenal gland was detected at the age of 43. Urinary metanephrine and normetanephrine concentrations gradually increased. The size of the right adrenal PCC continued to increase one year after detection. Genetic testing of the peripheral blood revealed the presence of a pathogenic variant in MAX. The natural history of adrenal PCCs with the MAX variant has not yet been clarified, because the number of reported cases is not sufficient. Thus, clinicians should consider a MAX variant when they find bilateral or multiple PCCs.
最近，嗜铬细胞瘤/副神经节瘤（PPGLs）的遗传背景已迅速被揭示。这些肿瘤曾被称为“10%肿瘤”；然而，PPGLs基因变异的频率已被证明比预期更为常见。PPGLs是潜在的遗传性肿瘤，临床上表现为散发性。在此，我们报告一例双侧嗜铬细胞瘤（PCC），其MYC相关因子X（MAX）基因存在变异（c.295 + 1G > A）。一名男性患者在40岁时被诊断为肾上腺嗜铬细胞瘤（PCC）并接受了左肾上腺切除术。43岁时在右肾上腺发现了一个新肿瘤。尿间甲肾上腺素和去甲间甲肾上腺素浓度逐渐升高。右肾上腺PCC在检测后一年大小持续增大。外周血基因检测显示MAX存在致病性变异。由于报告的病例数量不足，具有MAX变异的肾上腺PCC的自然病史尚未明确。因此，临床医生在发现双侧或多发PCC时应考虑MAX变异。
