Takagi Kimiaki, Hashimoto Masaya, Muramatsu-Maekawa Yuka, Nakane Keita, Koie Takuya
Urology, Daiyukai General Hospital, Aichi, JPN.
Endocrinology, Daiyukai General Hospital, Aichi, JPN.
Cureus. 2024 Oct 19;16(10):e71839. doi: 10.7759/cureus.71839. eCollection 2024 Oct.
Pheochromocytoma and paraganglioma are often associated with hereditary syndromes, particularly those involving genes such as , which is linked to multiple endocrine neoplasia type 2A. Genetic testing plays a crucial role in diagnosing these conditions, guiding treatment strategies, and providing early intervention options for the affected families. A 57-year-old man presenting with back pain was found to have a left adrenal tumor and a retroperitoneal tumor near the left renal hilum. Hormonal studies and imaging confirmed the diagnosis of pheochromocytoma and paraganglioma. The patient underwent robot-assisted laparoscopic surgery to remove the tumors. Postoperative multigene panel testing identified a mutation in c.1901G > T (p.Cys634Phe) leading to the diagnosis of multiple endocrine neoplasia type 2A. Despite this genetic finding, no other endocrine tumors, such as medullary thyroid cancer or hyperparathyroidism, were detected at the time of diagnosis. The patient remains under close surveillance for the potential development of associated conditions. This case highlights the importance of comprehensive genetic testing in patients with pheochromocytoma and paraganglioma, particularly when hereditary syndromes are suspected. Genetic insights ensure precise management, allowing for tailored treatment and improved outcomes in patients with hereditary pheochromocytoma and paraganglioma.
嗜铬细胞瘤和副神经节瘤常与遗传性综合征相关，尤其是那些涉及某些基因的综合征，这些基因与2A型多发性内分泌腺瘤病有关。基因检测在诊断这些疾病、指导治疗策略以及为受影响的家庭提供早期干预选择方面起着至关重要的作用。一名57岁因背痛就诊的男性被发现左肾上腺有一个肿瘤以及左肾门附近有一个腹膜后肿瘤。激素研究和影像学检查确诊为嗜铬细胞瘤和副神经节瘤。该患者接受了机器人辅助腹腔镜手术以切除肿瘤。术后多基因检测发现了c.1901G > T（p.Cys634Phe）突变，从而诊断为2A型多发性内分泌腺瘤病。尽管有这一基因发现，但在诊断时未检测到其他内分泌肿瘤，如甲状腺髓样癌或甲状旁腺功能亢进。该患者仍处于密切监测之下，以防相关疾病的潜在发展。这个病例突出了对嗜铬细胞瘤和副神经节瘤患者进行全面基因检测的重要性，特别是在怀疑有遗传性综合征时。基因分析确保精确管理，从而为遗传性嗜铬细胞瘤和副神经节瘤患者提供量身定制的治疗并改善治疗效果。
