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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

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
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
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

Kiyozawa D, Kohashi K, Takamatsu D, Iwasaki T, Shibata D, Tomonaga T, Tateishi Y, Eto M, Kinjo M, Nishiyama K, Taguchi K, Oshiro Y, Kuboyama Y, Furuya M, Oda Y
Hum Pathol 2022 Jun;124:36-44. Epub 2022 Mar 16 doi: 10.1016/j.humpath.2022.03.002. PMID: 35306021
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
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
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
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

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
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
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
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
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

Therapy

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
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
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
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

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
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
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
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
Lau HD, Chan E, Fan AC, Kunder CA, Williamson SR, Zhou M, Idrees MT, Maclean FM, Gill AJ, Kao CS
Am J Surg Pathol 2020 Jan;44(1):98-110. doi: 10.1097/PAS.0000000000001372. PMID: 31524643

Clinical prediction guides

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
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
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
Kuroda N, Tsutsui M, Iguchi M, Nobuoka E, Uehara T, Sonobe Y, Morinaga Y, Shibuya S, Oda W, Yanai H, Kawada C, Karashima T, Yamasaki I, Inoue K, Nagashima Y
Ann Diagn Pathol 2020 Dec;49:151599. Epub 2020 Aug 24 doi: 10.1016/j.anndiagpath.2020.151599. PMID: 32977234
Agaimy A, Hartmann A
Semin Diagn Pathol 2018 May;35(3):154-160. Epub 2018 Feb 1 doi: 10.1053/j.semdp.2018.01.001. PMID: 29395463

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