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Fumarate Hydratase-Deficient Renal Cell Carcinoma

MedGen UID:
1712739
•Concept ID:
C5236017
•
Neoplastic Process
Synonyms: FH-Deficient RCC; FH-Deficient Renal Cell Carcinoma

Definition

A rare, highly aggressive renal cell carcinoma caused by germline or (in a subset) somatic mutation of fumarate hydratase gene. It arises mostly in the setting of hereditary leiomyomatosis-renal cell carcinoma syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFumarate Hydratase-Deficient Renal Cell Carcinoma

Professional guidelines

PubMed

The New WHO Category of "Molecularly Defined Renal Carcinomas": Clinical and Diagnostic Features and Management Implications.
Kanakaraj J, Chang J, Hampton LJ, Smith SC
Urol Oncol 2024 Jul;42(7):211-219. Epub 2024 Mar 21 doi: 10.1016/j.urolonc.2024.02.003. PMID: 38519377
Tumors masquerading as type 2 papillary renal cell carcinoma: pathologists' ever-expanding differential diagnosis for a heterogeneous group of entities.
Taylor AS, Skala SL
Urol Oncol 2022 Dec;40(12):499-511. Epub 2021 Jun 8 doi: 10.1016/j.urolonc.2021.04.043. PMID: 34116938
The Differential Diagnosis of Medullary-Based Renal Masses.
Baniak N, Tsai H, Hirsch MS
Arch Pathol Lab Med 2021 Sep 1;145(9):1148-1170. doi: 10.5858/arpa.2020-0464-RA. PMID: 33406251

Recent clinical studies

Etiology

The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma.
Bai J, Li X, Wen Y, Lu Q, Chen R, Liu R, Shangguan T, Ye Y, Lin J, Cai W, Kang D, Chen J
Aging (Albany NY) 2024 Feb 19;16(4):3631-3646. doi: 10.18632/aging.205549. PMID: 38376408Free PMC Article
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma.
Carril-Ajuria L, Colomba E, Cerbone L, Romero-Ferreiro C, Crouzet L, Laguerre B, Thibault C, Vicier C, de Velasco G, Fléchon A, Saldana C, Benusiglio PR, Bressac-de Paillerets B, Guillaud-Bataille M, Gaignard P, Scoazec JY, Richard S, Caron O, Escudier B, Albiges L
Eur J Cancer 2021 Jul;151:106-114. Epub 2021 May 8 doi: 10.1016/j.ejca.2021.04.009. PMID: 33975058
Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Gleeson JP, Nikolovski I, Dinatale R, Zucker M, Knezevic A, Patil S, Ged Y, Kotecha RR, Shapnik N, Murray S, Russo P, Coleman J, Lee CH, Stadler ZK, Hakimi AA, Feldman DR, Motzer RJ, Reznik E, Voss MH, Chen YB, Carlo MI
Clin Cancer Res 2021 May 15;27(10):2910-2919. Epub 2021 Mar 3 doi: 10.1158/1078-0432.CCR-20-4367. PMID: 33658299Free PMC Article
Imaging features of fumarate hydratase-deficient renal cell carcinomas: a retrospective study.
Nikolovski I, Carlo MI, Chen YB, Vargas HA
Cancer Imaging 2021 Feb 19;21(1):24. doi: 10.1186/s40644-021-00392-9. PMID: 33608050Free PMC Article
Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Sun G, Zhang X, Liang J, Pan X, Zhu S, Liu Z, Armstrong CM, Chen J, Lin W, Liao B, Lin T, Huang R, Zhang M, Zheng L, Yin X, Nie L, Shen P, Zhao J, Zhang H, Dai J, Shen Y, Li Z, Liu J, Chen J, Liu J, Wang Z, Zhu X, Ni Y, Qin D, Yang L, Chen Y, Wei Q, Li X, Zhou Q, Huang H, Yao J, Chen N, Zeng H
Clin Cancer Res 2021 Mar 15;27(6):1734-1743. Epub 2021 Jan 7 doi: 10.1158/1078-0432.CCR-20-3788. PMID: 33414138

Diagnosis

AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Zheng L, Zhang X, Pan X, Huang Z, Zhang M, Xian J, Wei Y, Nie L, Zhang M, Gong J, Chen X, Zhou Q, Zeng H, Chen N
Mod Pathol 2023 Nov;36(11):100303. Epub 2023 Aug 12 doi: 10.1016/j.modpat.2023.100303. PMID: 37580017
Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.
Zheng L, Zhu ZR, Sneh T, Zhang WT, Wang ZY, Wu GY, He W, Qi HG, Wang H, Wu XY, Fernández-García J, Abramovich I, Xu YZ, Zhang J, Gottlieb E
J Clin Invest 2023 Jun 1;133(11) doi: 10.1172/JCI165028. PMID: 37053010Free PMC Article
Is Intact FH Staining Sufficient to Rule out the Possibility of FH-Deficient Renal Cell Carcinoma?
Hamza Md A
Int J Surg Pathol 2023 Aug;31(5):907-908. Epub 2022 Jun 30 doi: 10.1177/10668969221105620. PMID: 35775107
Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Gupta S, Erickson LA
Mayo Clin Proc 2020 Mar;95(3):619-621. doi: 10.1016/j.mayocp.2020.01.026. PMID: 32138894
Hereditary leiomyomatosis and renal cell carcinoma/fumarate hydratase-deficient renal cell carcinoma: two primaries in one.
Storey B, Shugg N, Grant A
ANZ J Surg 2020 Apr;90(4):E93-E94. Epub 2019 Jul 4 doi: 10.1111/ans.15323. PMID: 31271241

Therapy

Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Chen J, Hu X, Zhao J, Yin X, Zheng L, Guo J, Chen J, Wang Y, Sheng X, Dong H, Liu X, Zhang X, Liang J, Liu H, Yao J, Liu J, Shen Y, Chen Z, He Z, Wang Y, Chen N, Nie L, Zhang M, Pan X, Chen Y, Liu H, Zhang Y, Tang Y, Zhu S, Zhao J, Dai J, Wang Z, Zeng Y, Wang Z, Huang H, Liu Z, Shen P, Zeng H, Sun G
Clin Cancer Res 2024 Jun 3;30(11):2571-2581. doi: 10.1158/1078-0432.CCR-23-2760. PMID: 38512114Free PMC Article
A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab.
Sekito T, Takamoto A, Kobayashi Y, Mitsui M, Watari S, Kubota R, Sadahira T, Iwata T, Nishimura S, Edamura K, Sako T, Araki M, Watanabe M, Watanabe T, Shibata R, Ennishi D, Nasu Y
Acta Med Okayama 2021 Jun;75(3):397-402. doi: 10.18926/AMO/62237. PMID: 34176946
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma.
Carril-Ajuria L, Colomba E, Cerbone L, Romero-Ferreiro C, Crouzet L, Laguerre B, Thibault C, Vicier C, de Velasco G, Fléchon A, Saldana C, Benusiglio PR, Bressac-de Paillerets B, Guillaud-Bataille M, Gaignard P, Scoazec JY, Richard S, Caron O, Escudier B, Albiges L
Eur J Cancer 2021 Jul;151:106-114. Epub 2021 May 8 doi: 10.1016/j.ejca.2021.04.009. PMID: 33975058
Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Sun G, Zhang X, Liang J, Pan X, Zhu S, Liu Z, Armstrong CM, Chen J, Lin W, Liao B, Lin T, Huang R, Zhang M, Zheng L, Yin X, Nie L, Shen P, Zhao J, Zhang H, Dai J, Shen Y, Li Z, Liu J, Chen J, Liu J, Wang Z, Zhu X, Ni Y, Qin D, Yang L, Chen Y, Wei Q, Li X, Zhou Q, Huang H, Yao J, Chen N, Zeng H
Clin Cancer Res 2021 Mar 15;27(6):1734-1743. Epub 2021 Jan 7 doi: 10.1158/1078-0432.CCR-20-3788. PMID: 33414138
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.
Wyvekens N, Valtcheva N, Mischo A, Helmchen B, Hermanns T, Choschzick M, Hötker AM, Rauch A, Mühleisen B, Akhoundova D, Weber A, Moch H, Rupp NJ
Genes Chromosomes Cancer 2020 Nov;59(11):611-619. Epub 2020 Jul 7 doi: 10.1002/gcc.22878. PMID: 32537760

Prognosis

Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Chen J, Hu X, Zhao J, Yin X, Zheng L, Guo J, Chen J, Wang Y, Sheng X, Dong H, Liu X, Zhang X, Liang J, Liu H, Yao J, Liu J, Shen Y, Chen Z, He Z, Wang Y, Chen N, Nie L, Zhang M, Pan X, Chen Y, Liu H, Zhang Y, Tang Y, Zhu S, Zhao J, Dai J, Wang Z, Zeng Y, Wang Z, Huang H, Liu Z, Shen P, Zeng H, Sun G
Clin Cancer Res 2024 Jun 3;30(11):2571-2581. doi: 10.1158/1078-0432.CCR-23-2760. PMID: 38512114Free PMC Article
The clinicopathologic and molecular features, and treatment outcome of fumarate hydratase-deficient renal cell carcinoma: a retrospective comparison with type 2 papillary renal cell carcinoma.
Bai J, Li X, Wen Y, Lu Q, Chen R, Liu R, Shangguan T, Ye Y, Lin J, Cai W, Kang D, Chen J
Aging (Albany NY) 2024 Feb 19;16(4):3631-3646. doi: 10.18632/aging.205549. PMID: 38376408Free PMC Article
Low-grade Oncocytic Fumarate Hydratase-deficient Renal Cell Carcinoma: An Update on Biologic Potential, Morphologic Spectrum, and Differential Diagnosis With Other Low-grade Oncocytic Tumors.
Hamza A, Sirohi D, Smith SC, Amin MB
Adv Anat Pathol 2021 Nov 1;28(6):396-407. doi: 10.1097/PAP.0000000000000321. PMID: 34561376
Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Gleeson JP, Nikolovski I, Dinatale R, Zucker M, Knezevic A, Patil S, Ged Y, Kotecha RR, Shapnik N, Murray S, Russo P, Coleman J, Lee CH, Stadler ZK, Hakimi AA, Feldman DR, Motzer RJ, Reznik E, Voss MH, Chen YB, Carlo MI
Clin Cancer Res 2021 May 15;27(10):2910-2919. Epub 2021 Mar 3 doi: 10.1158/1078-0432.CCR-20-4367. PMID: 33658299Free PMC Article
Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma.
Sun G, Zhang X, Liang J, Pan X, Zhu S, Liu Z, Armstrong CM, Chen J, Lin W, Liao B, Lin T, Huang R, Zhang M, Zheng L, Yin X, Nie L, Shen P, Zhao J, Zhang H, Dai J, Shen Y, Li Z, Liu J, Chen J, Liu J, Wang Z, Zhu X, Ni Y, Qin D, Yang L, Chen Y, Wei Q, Li X, Zhou Q, Huang H, Yao J, Chen N, Zeng H
Clin Cancer Res 2021 Mar 15;27(6):1734-1743. Epub 2021 Jan 7 doi: 10.1158/1078-0432.CCR-20-3788. PMID: 33414138

Clinical prediction guides

Memory/Active T-Cell Activation Is Associated with Immunotherapeutic Response in Fumarate Hydratase-Deficient Renal Cell Carcinoma.
Chen J, Hu X, Zhao J, Yin X, Zheng L, Guo J, Chen J, Wang Y, Sheng X, Dong H, Liu X, Zhang X, Liang J, Liu H, Yao J, Liu J, Shen Y, Chen Z, He Z, Wang Y, Chen N, Nie L, Zhang M, Pan X, Chen Y, Liu H, Zhang Y, Tang Y, Zhu S, Zhao J, Dai J, Wang Z, Zeng Y, Wang Z, Huang H, Liu Z, Shen P, Zeng H, Sun G
Clin Cancer Res 2024 Jun 3;30(11):2571-2581. doi: 10.1158/1078-0432.CCR-23-2760. PMID: 38512114Free PMC Article
Fumarate Hydratase-Deficient Renal Cell Carcinoma With Predominant Tubulocystic Features Mimics Tubulocystic Renal Cell Carcinoma.
Yang X, Liu Y, Wang H, Xu Y, Zhang H, Zhao M, Luo X, Jin H, Xiong J, Tao L, Xu J, Zhou L, Li X, Xu H, Dong L, Wang C
Arch Pathol Lab Med 2024 Dec 1;148(12):1358-1364. doi: 10.5858/arpa.2023-0330-OA. PMID: 38390749
Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase-deficient renal cell carcinoma.
Liang J, Sun G, Pan X, Zhang M, Shen P, Zhu S, Zhao J, Zheng L, Zhao J, Chen Y, Yin X, Chen J, Hu X, Zeng Y, Chen J, Wang Y, Liu Z, Yao J, Su M, Huang R, Liao B, Wei Q, Li X, Zhou Q, Liu J, Shen Y, Liu Z, Chen N, Zeng H, Zhang X
Genome Med 2023 May 2;15(1):31. doi: 10.1186/s13073-023-01182-7. PMID: 37131267Free PMC Article
Characterization of protein S-(2-succino)-cysteine (2SC) succination as a biomarker for fumarate hydratase-deficient renal cell carcinoma.
Mannan R, Wang X, Bawa PS, Chugh S, Chinnaiyan AK, Rangaswamy R, Zhang Y, Cao X, Smith SC, Trpkov K, Williamson SR, Sangoi AR, Mohanty S, McKenney JK, Gupta S, Magi-Galluzzi C, Argani P, Osunkoya AO, Chinnaiyan AM, Dhanasekaran SM, Mehra R
Hum Pathol 2023 Apr;134:102-113. Epub 2022 Dec 26 doi: 10.1016/j.humpath.2022.12.013. PMID: 36581128
The Differential Diagnosis of Medullary-Based Renal Masses.
Baniak N, Tsai H, Hirsch MS
Arch Pathol Lab Med 2021 Sep 1;145(9):1148-1170. doi: 10.5858/arpa.2020-0464-RA. PMID: 33406251

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