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Hereditary clear cell renal cell carcinoma

MedGen UID:
234343
•Concept ID:
C1333985
•
Neoplastic Process
Synonyms: hereditary clear cell renal carcinoma; Hereditary clear cell renal cell adenocarcinoma; hereditary clear cell renal cell adenocarcinoma; Hereditary clear cell renal cell cancer; Hereditary Clear Cell Renal Cell Carcinoma; hereditary clear cell renal cell carcinoma; Hereditary Conventional (Clear Cell) Renal Cell Carcinoma; hereditary conventional (clear cell) renal cell carcinoma; hereditary conventional renal cell carcinoma; Hereditary primary clear cell renal cell adenocarcinoma; Hereditary primary clear cell renal cell carcinoma; Von Hippel Lindau-Deficient Clear Cell Renal Cell Carcinoma
SNOMED CT: Hereditary primary clear cell renal cell carcinoma (764961009); Hereditary primary clear cell renal cell adenocarcinoma (764961009)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018492
Orphanet: ORPHA422526

Definition

A hereditary renal cancer syndrome defined as development of hereditary clear cell renal cell carcinoma (ccRCC) in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other neoplasm predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbe syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary clear cell renal cell carcinoma

Professional guidelines

PubMed

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
Lalloo F, Kulkarni A, Chau C, Nielsen M, Sheaff M, Steele J, van Doorn R, Wadt K, Hamill M, Torr B, Tischkowitz M; Delphi respondents, Hanson H
Eur J Hum Genet 2023 Nov;31(11):1261-1269. Epub 2023 Aug 22 doi: 10.1038/s41431-023-01448-z. PMID: 37607989Free PMC Article
JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Telomere-related gene risk model for prognosis and drug treatment efficiency prediction in kidney cancer.
Li SC, Jia ZK, Yang JJ, Ning XH
Front Immunol 2022;13:975057. Epub 2022 Sep 16 doi: 10.3389/fimmu.2022.975057. PMID: 36189312Free PMC Article

Recent clinical studies

Etiology

Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR, Chakraborty N, Matulionis N, Hernandez S, Ueno D, Gee ME, Esplin ED, Ouyang K, Nykamp K, Shuch B, Christofk HR
Cancer Discov 2023 Sep 6;13(9):2072-2089. doi: 10.1158/2159-8290.CD-22-0874. PMID: 37255402Free PMC Article
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
BAP1: Not just a BRCA1-associated protein.
Louie BH, Kurzrock R
Cancer Treat Rev 2020 Nov;90:102091. Epub 2020 Aug 20 doi: 10.1016/j.ctrv.2020.102091. PMID: 32877777Free PMC Article
Renal cell carcinoma: Review of etiology, pathophysiology and risk factors.
Petejova N, Martinek A
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun;160(2):183-94. Epub 2015 Nov 3 doi: 10.5507/bp.2015.050. PMID: 26558360

Diagnosis

Renal Cell Carcinoma: A Review.
Rose TL, Kim WY
JAMA 2024 Sep 24;332(12):1001-1010. doi: 10.1001/jama.2024.12848. PMID: 39196544
Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR, Chakraborty N, Matulionis N, Hernandez S, Ueno D, Gee ME, Esplin ED, Ouyang K, Nykamp K, Shuch B, Christofk HR
Cancer Discov 2023 Sep 6;13(9):2072-2089. doi: 10.1158/2159-8290.CD-22-0874. PMID: 37255402Free PMC Article
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.
Ooi A
Semin Cancer Biol 2020 Apr;61:158-166. Epub 2019 Nov 2 doi: 10.1016/j.semcancer.2019.10.016. PMID: 31689495Free PMC Article

Therapy

JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N, Szuber N, Tefferi A
Am J Hematol 2023 Jun;98(6):965-981. Epub 2023 Apr 3 doi: 10.1002/ajh.26920. PMID: 36966432
Genomic Profiling and Response to Immune Checkpoint Inhibition plus Tyrosine Kinase Inhibition in FH-Deficient Renal Cell Carcinoma.
Xu Y, Kong W, Cao M, Wang J, Wang Z, Zheng L, Wu X, Cheng R, He W, Yang B, Dong B, Pan J, Chen Y, Huang J, Jiang C, Zhai W, Li F, Chen R, Zhou X, Wu G, Geng X, Chen J, An H, Yuan Y, Xu T, Chen D, Lin D, Xu L, Huang K, Peng L, Yu Y, Tai S, Qi H, Luo K, Kang X, Wang H, Huang Y, Zhang J, Xue W
Eur Urol 2023 Feb;83(2):163-172. Epub 2022 Jun 15 doi: 10.1016/j.eururo.2022.05.029. PMID: 35715365
Renal cell carcinoma: Review of etiology, pathophysiology and risk factors.
Petejova N, Martinek A
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun;160(2):183-94. Epub 2015 Nov 3 doi: 10.5507/bp.2015.050. PMID: 26558360
Molecular aberrations, targeted therapy, and renal cell carcinoma: current state-of-the-art.
Randall JM, Millard F, Kurzrock R
Cancer Metastasis Rev 2014 Dec;33(4):1109-24. doi: 10.1007/s10555-014-9533-1. PMID: 25365943
Renal cell carcinoma.
Rini BI, Campbell SC, Rathmell WK
Curr Opin Oncol 2006 May;18(3):289-96. doi: 10.1097/01.cco.0000219260.60714.c4. PMID: 16552243

Prognosis

Renal Cell Carcinoma: A Review.
Rose TL, Kim WY
JAMA 2024 Sep 24;332(12):1001-1010. doi: 10.1001/jama.2024.12848. PMID: 39196544
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, Yang H
BMC Urol 2022 Nov 30;22(1):196. doi: 10.1186/s12894-022-01141-1. PMID: 36451132Free PMC Article
Telomere-related gene risk model for prognosis and drug treatment efficiency prediction in kidney cancer.
Li SC, Jia ZK, Yang JJ, Ning XH
Front Immunol 2022;13:975057. Epub 2022 Sep 16 doi: 10.3389/fimmu.2022.975057. PMID: 36189312Free PMC Article
Novel, emerging and provisional renal entities: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Trpkov K, Williamson SR, Gill AJ, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Hes O
Mod Pathol 2021 Jun;34(6):1167-1184. Epub 2021 Feb 1 doi: 10.1038/s41379-021-00737-6. PMID: 33526874
SnapShot: Renal Cell Carcinoma.
Ricketts CJ, Crooks DR, Sourbier C, Schmidt LS, Srinivasan R, Linehan WM
Cancer Cell 2016 Apr 11;29(4):610-610.e1. doi: 10.1016/j.ccell.2016.03.021. PMID: 27070709

Clinical prediction guides

Renal Cell Carcinoma: A Review.
Rose TL, Kim WY
JAMA 2024 Sep 24;332(12):1001-1010. doi: 10.1001/jama.2024.12848. PMID: 39196544
Genomic Profiling and Response to Immune Checkpoint Inhibition plus Tyrosine Kinase Inhibition in FH-Deficient Renal Cell Carcinoma.
Xu Y, Kong W, Cao M, Wang J, Wang Z, Zheng L, Wu X, Cheng R, He W, Yang B, Dong B, Pan J, Chen Y, Huang J, Jiang C, Zhai W, Li F, Chen R, Zhou X, Wu G, Geng X, Chen J, An H, Yuan Y, Xu T, Chen D, Lin D, Xu L, Huang K, Peng L, Yu Y, Tai S, Qi H, Luo K, Kang X, Wang H, Huang Y, Zhang J, Xue W
Eur Urol 2023 Feb;83(2):163-172. Epub 2022 Jun 15 doi: 10.1016/j.eururo.2022.05.029. PMID: 35715365
Telomere-related gene risk model for prognosis and drug treatment efficiency prediction in kidney cancer.
Li SC, Jia ZK, Yang JJ, Ning XH
Front Immunol 2022;13:975057. Epub 2022 Sep 16 doi: 10.3389/fimmu.2022.975057. PMID: 36189312Free PMC Article
New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ
Mod Pathol 2021 Jul;34(7):1392-1424. Epub 2021 Mar 4 doi: 10.1038/s41379-021-00779-w. PMID: 33664427
Familial leiomyomatosis: a review and discussion of pathogenesis.
Garman ME, Blumberg MA, Ernst R, Raimer SS
Dermatology 2003;207(2):210-3. doi: 10.1159/000071802. PMID: 12920381

Recent systematic reviews

Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.
Zhang H, Andreou A, Bhatt R, Whitworth J, Yngvadottir B, Maher ER
Eur J Hum Genet 2024 Aug;32(8):887-894. Epub 2024 May 27 doi: 10.1038/s41431-024-01628-5. PMID: 38802529Free PMC Article
Molecular Characterization of Upper Tract Urothelial Carcinoma in the Era of Next-generation Sequencing: A Systematic Review of the Current Literature.
Hassler MR, Bray F, Catto JWF, Grollman AP, Hartmann A, Margulis V, Matin SF, Roupret M, Sfakianos JP, Shariat SF, Faltas BM
Eur Urol 2020 Aug;78(2):209-220. Epub 2020 Jun 20 doi: 10.1016/j.eururo.2020.05.039. PMID: 32571725
Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.
Carlo MI, Hakimi AA, Stewart GD, Bratslavsky G, Brugarolas J, Chen YB, Linehan WM, Maher ER, Merino MJ, Offit K, Reuter VE, Shuch B, Coleman JA
Eur Urol 2019 Dec;76(6):754-764. Epub 2019 Jul 18 doi: 10.1016/j.eururo.2019.06.015. PMID: 31326218Free PMC Article
Hereditary renal cancer syndromes: an update of a systematic review.
Verine J, Pluvinage A, Bousquet G, Lehmann-Che J, de Bazelaire C, Soufir N, Mongiat-Artus P
Eur Urol 2010 Nov;58(5):701-10. Epub 2010 Aug 27 doi: 10.1016/j.eururo.2010.08.031. PMID: 20817385
Genetic basis for kidney cancer: opportunity for disease-specific approaches to therapy.
Pfaffenroth EC, Linehan WM
Expert Opin Biol Ther 2008 Jun;8(6):779-90. doi: 10.1517/14712598.8.6.779. PMID: 18476789Free PMC Article

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