Xp11.2易位性肾癌的临床特点、治疗及预后
|
摘要
目的:分析Xp11.2易位性肾癌病例的临床特点、治疗及预后。方法:回顾性分析2008年1月至2018年6月于四川大学华西医院病理确诊为Xp11.2易位性肾癌的15例患者的临床资料。Ⅰ～Ⅲ期的病例中,4例行保留肾单位手术,7例行根治性肾癌切除术,术后均未行辅助治疗。4例Ⅳ期的患者中2例行细胞减灭性肾切除术联合靶向药物治疗,1例行原发灶和转移灶联合切除术,1例给予最佳支持治疗。应用Kaplan-Meier法分析总生存率,Log-rank检验进行单因素分析。结果:全组病例中男性6例,女性9例;年龄5～60岁,中位年龄28岁;18岁以下5例,小于46岁者共13例(86.7%)。本组Ⅰ～Ⅲ期的11例患者随访中均未见复发及转移,其中1例随访中出现第二原发肿瘤。Log-rank检验分析得出T4/Ⅳ期的患者较非T4/Ⅳ期患者的生存率低、肿瘤最大径>7cm者较≤7cm者生存率低。结论:Xp11.2易位性肾癌发病率女性多于男性,临床症状不典型,晚期患者易出现骨、肺转移。手术为该病最为重要的治疗手段,原发病灶和转移病灶联合切除可以提高晚期患者生存时间。MSKCC评分可能作为Ⅳ期患者评价预后的指标。肿瘤最大径>7cm、T4/Ⅳ期可能是影响预后的因素。
Objective: To analyze the clinical features, treatment and prognosis of Xp11.2 translocation renal cell carcinoma. Methods: Clinical data of 15 patients with Xp11.2 translocation renal cell carcinoma diagnosed in the pathology department of West China Hospital from January 2008 to June 2018 were retrospectively analyzed. In patients in stage I～III, nephron-sparing surgery was performed in 4 patients, and radical nephrectomy in 7 patients, and no adjuvant therapy was performed after operation. Of the 4 patients in stage Ⅳ, 2 underwent cytoreductive nephrectomy combined with targeted drug therapy, 1 underwent combined resection of primary and metastatic lesions, and 1 underwent optimal adjuvant therapy. The overall survival rate was analyzed by Kaplan-Meier analysis and single factor analysis was performed. The Log-rank test was used to compare the difference of survival rate between groups. Results: Of all the cases, there were 6 males and 9 females; the age was 5 to 60 years and the median age was 28 years; There were 5 cases under 18 years old and 13 cases less than 46 years old(86.7%). No recurrence or metastasis was found in patients in stage I～III during the follow-up. One of them had a second primary tumor during follow-up. Kaplan-Meier analysis showed that the survival rate of patients in the T4/IV phase was lower than that of patients in the non-T4/IV phase, and the survival rate of patients with the tumor's maximum diameter greater than 7 cm was lower than that of patients with the tumor's maximum diameter smaller than 7 cm. Conclusion: The incidence of Xp11.2 translocation renal cell carcinoma is higher in females than in males. The clinical symptoms of Xp11.2 translocation renal cell carcinoma are atypical, and bone or lung metastasis is prone to occur in advanced patients. Surgery is the most important treatment for this disease. Combined resection of primary and metastatic lesions can improve the survival time of advanced patients. The MSKCC score may be used as an indicator of prognosis in patients in stage IV. Tumor maximum diameter greater than 7 cm and the T4/IV phase were probably potential prognostic factors.
Objective: To analyze the clinical features, treatment and prognosis of Xp11.2 translocation renal cell carcinoma. Methods: Clinical data of 15 patients with Xp11.2 translocation renal cell carcinoma diagnosed in the pathology department of West China Hospital from January 2008 to June 2018 were retrospectively analyzed. In patients in stage I～III, nephron-sparing surgery was performed in 4 patients, and radical nephrectomy in 7 patients, and no adjuvant therapy was performed after operation. Of the 4 patients in stage Ⅳ, 2 underwent cytoreductive nephrectomy combined with targeted drug therapy, 1 underwent combined resection of primary and metastatic lesions, and 1 underwent optimal adjuvant therapy. The overall survival rate was analyzed by Kaplan-Meier analysis and single factor analysis was performed. The Log-rank test was used to compare the difference of survival rate between groups. Results: Of all the cases, there were 6 males and 9 females; the age was 5 to 60 years and the median age was 28 years; There were 5 cases under 18 years old and 13 cases less than 46 years old(86.7%). No recurrence or metastasis was found in patients in stage I～III during the follow-up. One of them had a second primary tumor during follow-up. Kaplan-Meier analysis showed that the survival rate of patients in the T4/IV phase was lower than that of patients in the non-T4/IV phase, and the survival rate of patients with the tumor's maximum diameter greater than 7 cm was lower than that of patients with the tumor's maximum diameter smaller than 7 cm. Conclusion: The incidence of Xp11.2 translocation renal cell carcinoma is higher in females than in males. The clinical symptoms of Xp11.2 translocation renal cell carcinoma are atypical, and bone or lung metastasis is prone to occur in advanced patients. Surgery is the most important treatment for this disease. Combined resection of primary and metastatic lesions can improve the survival time of advanced patients. The MSKCC score may be used as an indicator of prognosis in patients in stage IV. Tumor maximum diameter greater than 7 cm and the T4/IV phase were probably potential prognostic factors.
引文
[1] Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions[J]. Am J Surg Pathol, 2010, 34(10): 1395-1406.
[2] Inamura K. Translocation renal cell carcinoma: an update on clinicopathological and molecular features[J]. Cancers (Basel), 2017, 9(9):E111.
[3] Sukov WR, Hodge JC, Lohse CM, et al. TFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patients[J]. Am J Surg Pathol, 2012, 36(5): 663-670.
[4] Cheng X, Gan W, Zhang G, et al. Clinical characteristics of XP11.2 translocation/TFE3 gene fusion renal cell carcinoma: a systematic review and meta-analysis of observational studies[J]. BMC Urol, 2016, 16(1): 40.
[5] Shuch B, Vourganti S, Ricketts CJ, et al. Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management[J]. J Clin Oncol, 2014, 32(5): 431-437.
[6] He J, Zhou K, Zhu B, et al. Dynamic contrast-enhanced CT characterization of Xp11.2 translocation/TFE3 gene fusions versus papillary renal cell carcinomas[J]. Biomed Res Int, 2015, 2015: 298679.
[7] Qu Y, Gu C, Wang H, et al. Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population[J]. Sci Rep, 2016, 6: 21677.
[8] Chen X, Yang Y, Gan W, et al. Newly designed break-apart and ASPL-TFE3 dual-fusion FISH assay are useful in diagnosing Xp11.2 translocation renal cell carcinoma and ASPL-TFE3 renal cell carcinoma: a STARD-compliant article[J]. Medicine (Baltimore), 2015, 94(19): e873.
[9] Argani P, Zhang L, Reuter VE, et al. RBM10-TFE3 renal cell carcinoma: a potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2 inversion resulting in false-negative TFE3 FISH[J]. Am J Surg Pathol, 2017, 41(5): 655-662.
[10] Lim B, You D, Jeong IG, et al. Clinicopathological features of Xp11.2 translocation renal cell carcinoma[J]. Korean J Urol, 2015, 56(3): 212-217.
[11] Liu N, Wang Z, Gan W, et al. Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions: clinical features, treatments and prognosis[J]. PLoS One, 2016, 11(11): e0166897.
[12] Liu C, Zhang W, Song H. Nephron-sparing surgery in the treatment of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions[J]. J Pediatr Surg, 2017, 52(9): 1492-1495.
[13] 司马晋, 张保, 姜丽丽, 等. 3D腹腔镜下水刀肾部分切除术的临床效果观察和体会[J].肿瘤预防与治疗, 2016, 29(5): 276-279.
[14] Mansouri D, Dimet S, Couanet D, et al. Renal cell carcinoma with an Xp11.2 translocation in a 16-year-old girl: a case report with cytological features[J]. Diagn Cytopathol, 2006, 34(11): 757-760.
[15] Choueiri TK, Lim ZD, Hirsch MS, et al. Vascular endothelial growth factor-targeted therapy for the treatment of adult metastatic Xp11.2 translocation renal cell carcinoma[J]. Cancer, 2010, 116(22): 5219-5225.
[16] Wang Z, Liu N, Gan W, et al. Postoperative recurrence of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion[J]. J Int Med Res, 2017, 45(4): 1287-1296.
[17] Liu N, Gan W, Qu F, et al. Does the fuhrman or world health organization/international society of urological pathology grading system apply to the Xp11.2 translocation renal cell carcinoma?: a 10-year single-center study[J]. Am J Pathol, 2018, 188(4): 929-936.
[18] 蔡文, 袁易初, 李明阳, 等. 索拉非尼和舒尼替尼一线治疗转移性肾癌的疗效比较及预后分析[J]. 中华肿瘤杂志, 2018, 40(5): 384-389.
[2] Inamura K. Translocation renal cell carcinoma: an update on clinicopathological and molecular features[J]. Cancers (Basel), 2017, 9(9):E111.
[3] Sukov WR, Hodge JC, Lohse CM, et al. TFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patients[J]. Am J Surg Pathol, 2012, 36(5): 663-670.
[4] Cheng X, Gan W, Zhang G, et al. Clinical characteristics of XP11.2 translocation/TFE3 gene fusion renal cell carcinoma: a systematic review and meta-analysis of observational studies[J]. BMC Urol, 2016, 16(1): 40.
[5] Shuch B, Vourganti S, Ricketts CJ, et al. Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management[J]. J Clin Oncol, 2014, 32(5): 431-437.
[6] He J, Zhou K, Zhu B, et al. Dynamic contrast-enhanced CT characterization of Xp11.2 translocation/TFE3 gene fusions versus papillary renal cell carcinomas[J]. Biomed Res Int, 2015, 2015: 298679.
[7] Qu Y, Gu C, Wang H, et al. Diagnosis of adults Xp11.2 translocation renal cell carcinoma by immunohistochemistry and FISH assays: clinicopathological data from ethnic Chinese population[J]. Sci Rep, 2016, 6: 21677.
[8] Chen X, Yang Y, Gan W, et al. Newly designed break-apart and ASPL-TFE3 dual-fusion FISH assay are useful in diagnosing Xp11.2 translocation renal cell carcinoma and ASPL-TFE3 renal cell carcinoma: a STARD-compliant article[J]. Medicine (Baltimore), 2015, 94(19): e873.
[9] Argani P, Zhang L, Reuter VE, et al. RBM10-TFE3 renal cell carcinoma: a potential diagnostic pitfall due to cryptic intrachromosomal Xp11.2 inversion resulting in false-negative TFE3 FISH[J]. Am J Surg Pathol, 2017, 41(5): 655-662.
[10] Lim B, You D, Jeong IG, et al. Clinicopathological features of Xp11.2 translocation renal cell carcinoma[J]. Korean J Urol, 2015, 56(3): 212-217.
[11] Liu N, Wang Z, Gan W, et al. Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions: clinical features, treatments and prognosis[J]. PLoS One, 2016, 11(11): e0166897.
[12] Liu C, Zhang W, Song H. Nephron-sparing surgery in the treatment of pediatric renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions[J]. J Pediatr Surg, 2017, 52(9): 1492-1495.
[13] 司马晋, 张保, 姜丽丽, 等. 3D腹腔镜下水刀肾部分切除术的临床效果观察和体会[J].肿瘤预防与治疗, 2016, 29(5): 276-279.
[14] Mansouri D, Dimet S, Couanet D, et al. Renal cell carcinoma with an Xp11.2 translocation in a 16-year-old girl: a case report with cytological features[J]. Diagn Cytopathol, 2006, 34(11): 757-760.
[15] Choueiri TK, Lim ZD, Hirsch MS, et al. Vascular endothelial growth factor-targeted therapy for the treatment of adult metastatic Xp11.2 translocation renal cell carcinoma[J]. Cancer, 2010, 116(22): 5219-5225.
[16] Wang Z, Liu N, Gan W, et al. Postoperative recurrence of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion[J]. J Int Med Res, 2017, 45(4): 1287-1296.
[17] Liu N, Gan W, Qu F, et al. Does the fuhrman or world health organization/international society of urological pathology grading system apply to the Xp11.2 translocation renal cell carcinoma?: a 10-year single-center study[J]. Am J Pathol, 2018, 188(4): 929-936.
[18] 蔡文, 袁易初, 李明阳, 等. 索拉非尼和舒尼替尼一线治疗转移性肾癌的疗效比较及预后分析[J]. 中华肿瘤杂志, 2018, 40(5): 384-389.