Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study

Abstract Background FH-Deficient Renal Cell Carcinoma (FH-RCC) is a rare, aggressive cancer with poor prognosis and treatment challenges. Immunohistochemical (IHC), including PD-1, PD-L1, PD-L2, and CTLA-4, play a key role in survival outcomes and therapeutic decisions, highlighting the need to eval...

Full description

Saved in:
Bibliographic Details
Main Authors: Junjie Bai, Jianjia Huang, Yushi Ye, Jun Lin, Yahui Wen, Zicheng Cai, Peihuang Chen, Tong Shangguan, Gaoyu Zou, Qianyi Qiu, Ru Chen, Rong Liu, Weizhong Cai, Shaoxing Zhu, Jianhui Chen, Xiaoyan Li
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Cancer
Subjects:
Online Access:https://doi.org/10.1186/s12885-025-14562-6
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849343659386863616
author Junjie Bai
Jianjia Huang
Yushi Ye
Jun Lin
Yahui Wen
Zicheng Cai
Peihuang Chen
Tong Shangguan
Gaoyu Zou
Qianyi Qiu
Ru Chen
Rong Liu
Weizhong Cai
Shaoxing Zhu
Jianhui Chen
Xiaoyan Li
author_facet Junjie Bai
Jianjia Huang
Yushi Ye
Jun Lin
Yahui Wen
Zicheng Cai
Peihuang Chen
Tong Shangguan
Gaoyu Zou
Qianyi Qiu
Ru Chen
Rong Liu
Weizhong Cai
Shaoxing Zhu
Jianhui Chen
Xiaoyan Li
author_sort Junjie Bai
collection DOAJ
description Abstract Background FH-Deficient Renal Cell Carcinoma (FH-RCC) is a rare, aggressive cancer with poor prognosis and treatment challenges. Immunohistochemical (IHC), including PD-1, PD-L1, PD-L2, and CTLA-4, play a key role in survival outcomes and therapeutic decisions, highlighting the need to evaluate their significance in FH-RCC. Methods The expression of IHC including PD-1, PD-L1, PD-L2 and CTLA-4 in tumor cells was evaluated. The clinicopathological and therapeutic information of 30 patients with FHRCC was retrospectively collected and correlation analysis and Kaplan-Meier analysis were performed. Results In a cohort of 30 patients with FHRCC, the majority of tumors exhibited a simple papillary structure. PD-1 positive expression was observed in 43.3% (13/30) of the patients, PD-L1 in 53.3% (16/30), PD-L2 in 20.0% (6/30), and CTLA-4 in 90%. CK-7 showed positive expression in 23.3% of the patients. Notably, PD-L1 positivity was associated with a higher frequency of simple papillary structures and better outcomes in patients receiving TKI monotherapy. Conversely, patients who underwent radical surgery, exhibited negative CK-7 expression, had positive PD-1 expression, and negative PD-L2 expression, demonstrated shorter disease-free survival (DFS). Additionally, those who underwent radical surgery and were PD-L2 negative had worse cancer-specific survival (CSS). Conclusion FH-RCC is highly aggressive and has a poor prognosis, and clinical and pathologic parameters such as IHC expression including PD-1, PD-L1, PD-L2 and CTLA-4 have a predictive value in prognosis and treatment.
format Article
id doaj-art-a3219849ef8f44b29106b401b7a28a7a
institution Kabale University
issn 1471-2407
language English
publishDate 2025-07-01
publisher BMC
record_format Article
series BMC Cancer
spelling doaj-art-a3219849ef8f44b29106b401b7a28a7a2025-08-20T03:42:53ZengBMCBMC Cancer1471-24072025-07-0125111410.1186/s12885-025-14562-6Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective studyJunjie Bai0Jianjia Huang1Yushi Ye2Jun Lin3Yahui Wen4Zicheng Cai5Peihuang Chen6Tong Shangguan7Gaoyu Zou8Qianyi Qiu9Ru Chen10Rong Liu11Weizhong Cai12Shaoxing Zhu13Jianhui Chen14Xiaoyan Li15Department of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalThe Graduate School of Fujian Medical UniversityDepartment of Pathology, Zhongshan Hospital, Xiamen UniversityDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Urology, Fujian Medical University Union HospitalDepartment of Pathology, Fujian Medical University Union HospitalAbstract Background FH-Deficient Renal Cell Carcinoma (FH-RCC) is a rare, aggressive cancer with poor prognosis and treatment challenges. Immunohistochemical (IHC), including PD-1, PD-L1, PD-L2, and CTLA-4, play a key role in survival outcomes and therapeutic decisions, highlighting the need to evaluate their significance in FH-RCC. Methods The expression of IHC including PD-1, PD-L1, PD-L2 and CTLA-4 in tumor cells was evaluated. The clinicopathological and therapeutic information of 30 patients with FHRCC was retrospectively collected and correlation analysis and Kaplan-Meier analysis were performed. Results In a cohort of 30 patients with FHRCC, the majority of tumors exhibited a simple papillary structure. PD-1 positive expression was observed in 43.3% (13/30) of the patients, PD-L1 in 53.3% (16/30), PD-L2 in 20.0% (6/30), and CTLA-4 in 90%. CK-7 showed positive expression in 23.3% of the patients. Notably, PD-L1 positivity was associated with a higher frequency of simple papillary structures and better outcomes in patients receiving TKI monotherapy. Conversely, patients who underwent radical surgery, exhibited negative CK-7 expression, had positive PD-1 expression, and negative PD-L2 expression, demonstrated shorter disease-free survival (DFS). Additionally, those who underwent radical surgery and were PD-L2 negative had worse cancer-specific survival (CSS). Conclusion FH-RCC is highly aggressive and has a poor prognosis, and clinical and pathologic parameters such as IHC expression including PD-1, PD-L1, PD-L2 and CTLA-4 have a predictive value in prognosis and treatment.https://doi.org/10.1186/s12885-025-14562-6FH-Deficient renal cell carcinomaImmunohistochemicalProgrammed death ligand-1 (PD-L1)Programmed death ligand-2 (PD-L2)
spellingShingle Junjie Bai
Jianjia Huang
Yushi Ye
Jun Lin
Yahui Wen
Zicheng Cai
Peihuang Chen
Tong Shangguan
Gaoyu Zou
Qianyi Qiu
Ru Chen
Rong Liu
Weizhong Cai
Shaoxing Zhu
Jianhui Chen
Xiaoyan Li
Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study
BMC Cancer
FH-Deficient renal cell carcinoma
Immunohistochemical
Programmed death ligand-1 (PD-L1)
Programmed death ligand-2 (PD-L2)
title Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study
title_full Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study
title_fullStr Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study
title_full_unstemmed Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study
title_short Clinicopathologic and prognosis of 30 patients with FH-deficient renal cell carcinoma: a single-center retrospective study
title_sort clinicopathologic and prognosis of 30 patients with fh deficient renal cell carcinoma a single center retrospective study
topic FH-Deficient renal cell carcinoma
Immunohistochemical
Programmed death ligand-1 (PD-L1)
Programmed death ligand-2 (PD-L2)
url https://doi.org/10.1186/s12885-025-14562-6
work_keys_str_mv AT junjiebai clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT jianjiahuang clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT yushiye clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT junlin clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT yahuiwen clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT zichengcai clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT peihuangchen clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT tongshangguan clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT gaoyuzou clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT qianyiqiu clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT ruchen clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT rongliu clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT weizhongcai clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT shaoxingzhu clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT jianhuichen clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy
AT xiaoyanli clinicopathologicandprognosisof30patientswithfhdeficientrenalcellcarcinomaasinglecenterretrospectivestudy