Department of Urology, First Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.
Department of Endocrinology, First Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.
Medicine (Baltimore). 2023 Jun 9;102(23):e34022. doi: 10.1097/MD.0000000000034022.
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.
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.
The patient was diagnosed with bilateral adrenal pheochromocytoma with a RET proto-oncogene mutation and a bilateral medullary spongy kidney.
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.
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.
嗜铬细胞瘤是一组具有高度遗传异质性的肿瘤，而 RET 基因重排型嗜铬细胞瘤伴髓质海绵肾的临床特征鲜见研究。本研究回顾性分析了我院收治的 1 例双侧肾上腺嗜铬细胞瘤合并髓质海绵肾伴 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。
本例患者因体检发现双侧肾上腺占位 8 年，伴间断头晕、周身不适 2 年入院。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，合并双侧髓质海绵肾。患者及家系成员签署知情同意书后，行 RET 基因检测。
患者双侧肾上腺嗜铬细胞瘤伴 RET 原癌基因突变，双侧髓质海绵肾诊断明确。
充分围手术期准备后，分期行后腹腔镜双侧肾上腺嗜铬细胞瘤切除术，手术均顺利完成，术后行激素替代治疗，定期随访。基因检测结果提示患者 RET 基因第 1900 位碱基发生 C>T 转换，导致第 634 位密码子由 CGA 突变为 CGC，即 c.1900T>C:p.C634R 杂合错义突变，其家系成员的儿子也携带该突变。文献分析发现，嗜铬细胞瘤是一种遗传异质性很高的肿瘤，RET 原癌基因是双侧肾上腺嗜铬细胞瘤的常见致病基因，而髓质海绵肾是该病的罕见并发症。
在充分围手术期准备的基础上，手术切除是治疗该疾病的最有效和首选方法。腹腔镜微创手术分期进行，安全、有效。RET 原癌基因突变可能导致多发性内分泌肿瘤 2 型伴髓质海绵肾。
