Abstract：
OBJECTIVE: To explore the clinicopathological features and prognosis of TFE3-rearranged renal cell carcinomas (TFE3-rRCC).
METHODS: In this retrospective observational study, the data of patients with TFE3-rRCC admitted to Xijing Hospital from January 2010 to October 2023 were collected, encompassing the general information, pathological diagnosis, immunohistochemistry, and the results of FISH detection. The treatment information and survival data of the patients were recorded during the follow-up.
RESULTS: A total of 55 patients with TFE3-rRCC were enrolled, among whom 25 were males and 30 were females. TFE3 FISH assay suggested the disruption of the TFE3 gene. Fifty-four patients underwent surgical resection of kidney lesions, while 1 patient did not. By the end of follow-up in December 2023, 3 patients were lost to follow-up, 28 patients remained alive, and 24 patients had died. Among the 52 patients followed up, 31 developed metastases, involving lymph nodes, liver, bone, lung, peritoneum, pleura, adrenal gland, and brain. The 1-year and 5-year survival rates of the patients were 84.6% and 50.6%, respectively. In this study, there were 31 patients with TFE3-rRCC recurrence or metastasis. Median PFS was 7 and 13 months in the VEGFR-TKI and VEGFR-TKI+ ICI groups, respectively. The median OS was 12 months in the VEGFR-TKI treatment group. The median OS data of VEGFR-TKI+ ICI group has not been reached. The ORR and DCR was 25%, 66.7% in the VEGFR-TKI group. The ORR and DCR was 33.3%, 77.8% in the VEGFR-TKI+ ICI group.
CONCLUSIONS: TFE3-rRCC is a rare subtype of malignant renal tumor. The diagnosis mainly relies on pathological morphology, immunohistochemistry, and the detection of TFE3 gene disruption by FISH. In terms of treatment, surgery is the primary approach, and lymph nodes, liver, and bone are the main metastatic sites. VEGFR-TKI+ICI treatment might be an option of recurrent or metastatic TFE3-rRCC.
METHODS: In this retrospective observational study, the data of patients with TFE3-rRCC admitted to Xijing Hospital from January 2010 to October 2023 were collected, encompassing the general information, pathological diagnosis, immunohistochemistry, and the results of FISH detection. The treatment information and survival data of the patients were recorded during the follow-up.
RESULTS: A total of 55 patients with TFE3-rRCC were enrolled, among whom 25 were males and 30 were females. TFE3 FISH assay suggested the disruption of the TFE3 gene. Fifty-four patients underwent surgical resection of kidney lesions, while 1 patient did not. By the end of follow-up in December 2023, 3 patients were lost to follow-up, 28 patients remained alive, and 24 patients had died. Among the 52 patients followed up, 31 developed metastases, involving lymph nodes, liver, bone, lung, peritoneum, pleura, adrenal gland, and brain. The 1-year and 5-year survival rates of the patients were 84.6% and 50.6%, respectively. In this study, there were 31 patients with TFE3-rRCC recurrence or metastasis. Median PFS was 7 and 13 months in the VEGFR-TKI and VEGFR-TKI+ ICI groups, respectively. The median OS was 12 months in the VEGFR-TKI treatment group. The median OS data of VEGFR-TKI+ ICI group has not been reached. The ORR and DCR was 25%, 66.7% in the VEGFR-TKI group. The ORR and DCR was 33.3%, 77.8% in the VEGFR-TKI+ ICI group.
CONCLUSIONS: TFE3-rRCC is a rare subtype of malignant renal tumor. The diagnosis mainly relies on pathological morphology, immunohistochemistry, and the detection of TFE3 gene disruption by FISH. In terms of treatment, surgery is the primary approach, and lymph nodes, liver, and bone are the main metastatic sites. VEGFR-TKI+ICI treatment might be an option of recurrent or metastatic TFE3-rRCC.
摘要：
目的：探讨TFE3重排肾细胞癌(TFE3-rRCC)的临床病理特征及预后。
方法：在这项回顾性观察研究中，收集2010年1月至2023年10月西京医院收治的TFE3-rRCC患者资料,包括一般信息，病理诊断,免疫组织化学，和FISH检测结果。随访期间记录患者的治疗信息和生存数据。
结果：共纳入55例TFE3-rRCC患者，其中男性25人，女性30人。TFE3FISH分析提示TFE3基因的破坏。54例患者接受了肾脏病变的手术切除，1例患者没有。到2023年12月随访结束时，有3名患者失访，28名患者仍然活着，24名患者死亡。在随访的52例患者中，31例发生转移，涉及淋巴结，肝脏,骨头,肺，腹膜,胸膜,肾上腺,和大脑。患者的1年和5年生存率分别为84.6%和50.6%,分别。在这项研究中,有31例TFE3-rRCC复发或转移。VEGFR-TKI和VEGFR-TKI+ICI组的平均PFS分别为7个月和13个月，分别。VEGFR-TKI治疗组的中位OS为12个月。尚未达到VEGFR-TKI+ICI组的中位OS数据。ORR和DCR为25%，VEGFR-TKI组的66.7%。ORR和DCR为33.3%，VEGFR-TKI+ICI组77.8%。
结论：TFE3-rRCC是一种罕见的恶性肾肿瘤亚型。诊断主要依靠病理形态学,免疫组织化学，并通过FISH检测TFE3基因的破坏。在治疗方面,手术是主要的方法，和淋巴结，肝脏,骨是主要的转移部位。VEGFR-TKI+ICI治疗可能是复发或转移性TFE3-rRCC的一种选择。
方法：在这项回顾性观察研究中，收集2010年1月至2023年10月西京医院收治的TFE3-rRCC患者资料,包括一般信息，病理诊断,免疫组织化学，和FISH检测结果。随访期间记录患者的治疗信息和生存数据。
结果：共纳入55例TFE3-rRCC患者，其中男性25人，女性30人。TFE3FISH分析提示TFE3基因的破坏。54例患者接受了肾脏病变的手术切除，1例患者没有。到2023年12月随访结束时，有3名患者失访，28名患者仍然活着，24名患者死亡。在随访的52例患者中，31例发生转移，涉及淋巴结，肝脏,骨头,肺，腹膜,胸膜,肾上腺,和大脑。患者的1年和5年生存率分别为84.6%和50.6%,分别。在这项研究中,有31例TFE3-rRCC复发或转移。VEGFR-TKI和VEGFR-TKI+ICI组的平均PFS分别为7个月和13个月，分别。VEGFR-TKI治疗组的中位OS为12个月。尚未达到VEGFR-TKI+ICI组的中位OS数据。ORR和DCR为25%，VEGFR-TKI组的66.7%。ORR和DCR为33.3%，VEGFR-TKI+ICI组77.8%。
结论：TFE3-rRCC是一种罕见的恶性肾肿瘤亚型。诊断主要依靠病理形态学,免疫组织化学，并通过FISH检测TFE3基因的破坏。在治疗方面,手术是主要的方法，和淋巴结，肝脏,骨是主要的转移部位。VEGFR-TKI+ICI治疗可能是复发或转移性TFE3-rRCC的一种选择。
