Li Chang, Han Liang, Song Yuming, Liu Rui
Department of VIP Unit, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Department of Pathology, China-Japan Union Hospital of Jilin University, Changchun, Jilin, China.
Front Oncol. 2024 May 21;14:1394552. doi: 10.3389/fonc.2024.1394552. eCollection 2024.
Pheochromocytoma is one of the most hereditary human tumors with at least 20 susceptible genes undergoing germline and somatic mutations, and other mutations less than 1% -2%. In recent years, other rare mutations have gradually been discovered to be possibly related to the pathogenesis and metastasis of pheochromocytoma. Most patients with pheochromocytoma experience common symptoms like headaches, palpitations, and sweating, while some may have less common symptoms. The diversity of symptoms, genetic mutations, and limited treatment options make management challenging.
A 53-year-old woman was hospitalized after experiencing episodic epigastric pain for one month. A mass was found in her right adrenal gland and she underwent robot-assisted laparoscopic surgery, revealing a pheochromocytoma. At the 16-month follow-up, multiple metastatic lesions consistent with metastatic pheochromocytoma were found. A germline mutation in the dihydrolipoamide succinyltransferase (DLST) gene (c.330 + 14A>G) was detected, and despite trying chemotherapy and adjuvant therapy, the patient had a limited response with an overall survival of 27 months.
DLST mutation is one of the rare pheochromocytoma-related mutated genes, and genetic sequencing is crucial for effective clinical management.
嗜铬细胞瘤是最具遗传性的人类肿瘤之一，至少有20个易感基因发生种系和体细胞突变，其他突变占比不到1%-2%。近年来，逐渐发现其他罕见突变可能与嗜铬细胞瘤的发病机制和转移有关。大多数嗜铬细胞瘤患者会出现头痛、心悸和出汗等常见症状，而有些患者可能有不太常见的症状。症状的多样性、基因突变以及有限的治疗选择使得管理具有挑战性。
一名53岁女性因间歇性上腹部疼痛1个月后住院。在其右肾上腺发现一个肿块，她接受了机器人辅助腹腔镜手术，结果显示为嗜铬细胞瘤。在16个月的随访中，发现了多个与转移性嗜铬细胞瘤一致的转移病灶。检测到二氢硫辛酰胺琥珀酰转移酶（DLST）基因的种系突变（c.330 + 14A>G），尽管尝试了化疗和辅助治疗，但患者反应有限，总生存期为27个月。
DLST突变是罕见的与嗜铬细胞瘤相关的突变基因之一，基因测序对有效的临床管理至关重要。
