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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.
 
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

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
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
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

Recent clinical studies

Etiology

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
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
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
Moch H, Cubilla AL, Humphrey PA, Reuter VE, Ulbright TM
Eur Urol 2016 Jul;70(1):93-105. Epub 2016 Feb 28 doi: 10.1016/j.eururo.2016.02.029. PMID: 26935559
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

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
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
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
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
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

Therapy

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
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
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
Randall JM, Millard F, Kurzrock R
Cancer Metastasis Rev 2014 Dec;33(4):1109-24. doi: 10.1007/s10555-014-9533-1. PMID: 25365943
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

Rogala J, Zhou M
Semin Diagn Pathol 2024 Jan;41(1):32-41. Epub 2023 Nov 8 doi: 10.1053/j.semdp.2023.11.001. PMID: 37981479
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
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
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
Ben-Skowronek I, Kozaczuk S
Horm Res Paediatr 2015;84(3):145-52. Epub 2015 Aug 5 doi: 10.1159/000431323. PMID: 26279462

Clinical prediction guides

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
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
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
Adeniran AJ, Shuch B, Humphrey PA
Am J Surg Pathol 2015 Dec;39(12):e1-e18. doi: 10.1097/PAS.0000000000000562. PMID: 26559379
Ngo TC, Wood CG, Karam JA
Urol Oncol 2014 Apr;32(3):243-51. Epub 2013 Nov 13 doi: 10.1016/j.urolonc.2013.07.011. PMID: 24239464

Recent systematic reviews

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
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
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
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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