背景:嗜铬细胞瘤是一组具有高度遗传异质性的肿瘤,很少研究转染过程中重排(RET)突变的嗜铬细胞瘤与髓质海绵状肾的临床特征。回顾性分析我科1例双侧肾上腺嗜铬细胞瘤合并髓质海绵肾RET基因突变患者的治疗过程,并结合相关文献对该类疾病的治疗方法进行研究和总结。
方法:在这种情况下,由于体格检查,该患者被发现有8年的双侧肾上腺肿块,间歇性头晕和不适2年。影像学及相关实验室检查提示双侧肾上腺巨大嗜铬细胞瘤伴双侧髓样海绵肾。在签署知情同意书后,对患者及其后代进行RET基因检测。
方法:患者被诊断为双侧肾上腺嗜铬细胞瘤,伴有RET原癌基因突变和双侧髓样海绵状肾。
■经过充分的围手术期准备,后腹腔镜双侧肾上腺嗜铬细胞瘤切除术分期进行。手术成功了,术后进行激素替代疗法,定期跟进。相关基因检测显示,在患者的RET基因中检测到c.1900T>C:p.C634R突变,这是一种杂合错义突变,突变也存在于他家族的儿子身上。文献分析发现嗜铬细胞瘤是一种具有高度遗传异质性的肿瘤,RET原癌基因是双侧肾上腺嗜铬细胞瘤的常见致病基因。肾脏的髓质海绵是这种疾病的罕见并发症。
结论:在充分的围手术期准备的基础上,手术切除是这种疾病最有效和首选的治疗方法。腹腔镜手术是微创的,安全,并且分阶段有效。RET原癌基因的突变可能导致多发性内分泌瘤2的髓质海绵状肾脏。
BACKGROUND: Pheochromocytomas are a group of tumors with high genetic heterogeneity, and the clinical characteristics of rearranged during transfection (RET)-mutated pheochromocytoma with medullary spongiform kidney are rarely studied. The treatment process of 1 patient with bilateral adrenal pheochromocytoma combined with medullary sponge kidney with RET gene mutation in our department was retrospectively analyzed, and the treatment methods for this type of disease were studied and summarized in combination with relevant literature.
METHODS: In this case, the patient was found to have bilateral adrenal masses for 8 years due to physical examination, and intermittent dizziness and discomfort for 2 years. Imaging and related laboratory examinations suggest bilateral adrenal giant pheochromocytoma with bilateral medullary sponge kidney. RET gene testing was performed on the patient and his descendant after signing the informed consent form.
METHODS: The patient was diagnosed with bilateral adrenal pheochromocytoma with a RET proto-oncogene mutation and a bilateral medullary spongy kidney.
UNASSIGNED: After sufficient perioperative preparation, retroperitoneal laparoscopic bilateral adrenal pheochromocytoma resection was performed by stages. The operation was successful, and hormone replacement therapy was performed after the operation, with regular follow-up. Relevant genetic testing revealed that the c.1900T > C: p.C634R mutation was detected in the patient\'s RET gene, which was a heterozygous missense mutation, and the mutation was also present in the son of his family. A literature analysis found that pheochromocytoma is a tumor with high genetic heterogeneity, and the RET proto-oncogene is a common pathogenic gene for bilateral adrenal pheochromocytoma. Medullary sponging of kidneys is a rare complication of this disease.
CONCLUSIONS: On the basis of adequate perioperative preparation, surgical resection is the most effective and preferred treatment for this type of disease. Laparoscopic surgery is minimally invasive, safe, and effective by stages. Mutations in the RET proto-oncogene may lead to medullary spongy kidneys in multiple endocrine neoplasia 2.