Dai Kunhan, Jiang Wencheng, Chen Siyu, Luo Shengjun, Ding Siwei, Wang Delin
Department of Urology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Front Oncol. 2022 Oct 18;12:932996. doi: 10.3389/fonc.2022.932996. eCollection 2022.
HLRCC-associated RCC (hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinoma) caused by germline mutations of the fumarate hydratase () gene is a rare autosomal dominant genetic renal cancer. At present, there are no reports of bilateral kidneys with HLRCC-associated RCC, let alone safe pregnancy after twice partial nephrectomy for bilateral kidney HLRCC-associated RCC.
We report a 25-year-old woman with bilateral renal tumors detected by ultrasound screening during a routine checkup. CT revealed a soft tissue mass in the parenchyma of the left kidney and a nodular soft tissue mass in the lower pole of the right kidney. She underwent robot-assisted laparoscopic left partial nephrectomy and underwent laparoscopic right partial nephrectomy 3 months after the first surgery. Heterozygous mutation in the gene on the patient's tumor tissue was detected by genetic testing. Combined with the patient's medical history, microstructure and immunohistochemical staining of tumor tissue, and genetic test results, the pathological reports after two operations concluded HLRCC-associated RCC. Then, she was injected with interferon and nivolumab as a preventative treatment against tumor recurrence. Up to 38 months after surgery, having given birth to a baby, till now there was no tumor progression.
This is a clinically significant case, as it provides a reference for pregnancy in patients undergoing partial nephrectomy for bilateral kidneys with HLRCC-associated RCC and may indicate an effective approach to preventing tumor recurrence by nivolumab in patients with HLRCC-associated RCC.
由延胡索酸水合酶(FH)基因种系突变引起的HLRCC相关性肾细胞癌(遗传性平滑肌瘤病和肾细胞癌相关性肾细胞癌)是一种罕见的常染色体显性遗传性肾癌。目前,尚无双侧肾脏发生HLRCC相关性肾细胞癌的报道,更没有针对双侧肾脏HLRCC相关性肾细胞癌行两次肾部分切除术后安全妊娠的报道。
我们报告一名25岁女性,在常规体检中通过超声筛查发现双侧肾肿瘤。CT显示左肾实质内有一软组织肿块,右肾下极有一结节状软组织肿块。她接受了机器人辅助腹腔镜左肾部分切除术,并在第一次手术后3个月接受了腹腔镜右肾部分切除术。通过基因检测在患者肿瘤组织中检测到FH基因杂合突变。结合患者病史、肿瘤组织的微观结构和免疫组化染色以及基因检测结果,两次手术后的病理报告确诊为HLRCC相关性肾细胞癌。然后,她接受了干扰素和纳武单抗注射作为预防肿瘤复发的治疗。术后38个月,她已生育一名婴儿,至今无肿瘤进展。
这是一个具有临床意义的病例,为双侧肾脏HLRCC相关性肾细胞癌行肾部分切除术的患者妊娠提供了参考,可能提示纳武单抗对HLRCC相关性肾细胞癌患者预防肿瘤复发的有效方法。