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Hereditary papillary renal cell carcinoma

MedGen UID:
163907
•Concept ID:
C0879257
•
Neoplastic Process
Synonyms: Familial Renal Papillary Carcinoma; familial renal papillary carcinoma; Hereditary Kidney Papillary Carcinoma; hereditary kidney papillary carcinoma; Hereditary Papillary Carcinoma of Kidney; hereditary papillary carcinoma of kidney; Hereditary Papillary Carcinoma of the Kidney; hereditary papillary carcinoma of the kidney; Hereditary Papillary Renal Carcinoma; hereditary papillary renal carcinoma; hereditary papillary renal cell cancer; Hereditary Papillary Renal Cell Carcinoma; hereditary papillary renal cell carcinoma; HPRCC; renal cell carcinoma, papillary; renal cell carcinoma, papillary, 1, familial and somatic
SNOMED CT: Hereditary papillary renal cell carcinoma (715561008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0003789
Orphanet: ORPHA47044

Definition

A familial predisposition for developing bilateral and multifocal type 1 papillary renal carcinoma. Transmitted as an autosomal dominant trait with reduced penetrance, the syndrome is associated with germline mutations in the MET proto-oncogene (7q31). [from SNOMEDCT_US]

Term Hierarchy

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

Professional guidelines

PubMed

Impact of genetics on the diagnosis and treatment of renal cancer.
Singer EA, Bratslavsky G, Middelton L, Srinivasan R, Linehan WM
Curr Urol Rep 2011 Feb;12(1):47-55. doi: 10.1007/s11934-010-0156-y. PMID: 21128028Free PMC Article

Recent clinical studies

Etiology

Inherited forms of renal cell carcinoma.
Kiuru M, Kujala M, Aittomäki K
Scand J Surg 2004;93(2):103-11. doi: 10.1177/145749690409300204. PMID: 15285561
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience.
Herring JC, Enquist EG, Chernoff A, Linehan WM, Choyke PL, Walther MM
J Urol 2001 Mar;165(3):777-81. PMID: 11176466
Bilateral non-familial renal cell carcinoma.
Grimaldi G, Reuter V, Russo P
Ann Surg Oncol 1998 Sep;5(6):548-52. doi: 10.1007/BF02303649. PMID: 9754765

Diagnosis

iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma.
Hwang JW, Desterke C, Féraud O, Richard S, Ferlicot S, Verkarre V, Patard JJ, Loisel-Duwattez J, Foudi A, Griscelli F, Bennaceur-Griscelli A, Turhan AG
Int J Mol Sci 2019 Sep 30;20(19) doi: 10.3390/ijms20194867. PMID: 31575031Free PMC Article
Renal cell cancers: unveiling the hereditary ones and saving lives-a tailored diagnostic approach.
Kallinikas G, Habib H, Tsimiliotis D, Koutsokostas E, Bokor B
Int Urol Nephrol 2017 Sep;49(9):1507-1512. Epub 2017 May 31 doi: 10.1007/s11255-017-1625-8. PMID: 28567709
Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens.
Przybycin CG, Magi-Galluzzi C, McKenney JK
Adv Anat Pathol 2013 Jul;20(4):245-63. doi: 10.1097/PAP.0b013e318299b7c6. PMID: 23752087
Impact of genetics on the diagnosis and treatment of renal cancer.
Singer EA, Bratslavsky G, Middelton L, Srinivasan R, Linehan WM
Curr Urol Rep 2011 Feb;12(1):47-55. doi: 10.1007/s11934-010-0156-y. PMID: 21128028Free PMC Article
Inherited forms of renal cell carcinoma.
Kiuru M, Kujala M, Aittomäki K
Scand J Surg 2004;93(2):103-11. doi: 10.1177/145749690409300204. PMID: 15285561

Prognosis

iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma.
Hwang JW, Desterke C, Féraud O, Richard S, Ferlicot S, Verkarre V, Patard JJ, Loisel-Duwattez J, Foudi A, Griscelli F, Bennaceur-Griscelli A, Turhan AG
Int J Mol Sci 2019 Sep 30;20(19) doi: 10.3390/ijms20194867. PMID: 31575031Free PMC Article
Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens.
Przybycin CG, Magi-Galluzzi C, McKenney JK
Adv Anat Pathol 2013 Jul;20(4):245-63. doi: 10.1097/PAP.0b013e318299b7c6. PMID: 23752087
Inherited forms of renal cell carcinoma.
Kiuru M, Kujala M, Aittomäki K
Scand J Surg 2004;93(2):103-11. doi: 10.1177/145749690409300204. PMID: 15285561
Bilateral non-familial renal cell carcinoma.
Grimaldi G, Reuter V, Russo P
Ann Surg Oncol 1998 Sep;5(6):548-52. doi: 10.1007/BF02303649. PMID: 9754765
Hereditary papillary renal cell carcinoma: clinical studies in 10 families.
Zbar B, Glenn G, Lubensky I, Choyke P, Walther MM, Magnusson G, Bergerheim US, Pettersson S, Amin M, Hurley K
J Urol 1995 Mar;153(3 Pt 2):907-12. PMID: 7853572

Clinical prediction guides

Clear cell and papillary renal cell carcinomas in hereditary papillary renal cell carcinoma (HPRCC) syndrome: a case report.
Ferlicot S, Just PA, Compérat E, Rouleau E, Tissier F, Vaessen C, Richard S
Diagn Pathol 2021 Nov 20;16(1):107. doi: 10.1186/s13000-021-01170-8. PMID: 34801057Free PMC Article
iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma.
Hwang JW, Desterke C, Féraud O, Richard S, Ferlicot S, Verkarre V, Patard JJ, Loisel-Duwattez J, Foudi A, Griscelli F, Bennaceur-Griscelli A, Turhan AG
Int J Mol Sci 2019 Sep 30;20(19) doi: 10.3390/ijms20194867. PMID: 31575031Free PMC Article
Hereditary syndromes with associated renal neoplasia: a practical guide to histologic recognition in renal tumor resection specimens.
Przybycin CG, Magi-Galluzzi C, McKenney JK
Adv Anat Pathol 2013 Jul;20(4):245-63. doi: 10.1097/PAP.0b013e318299b7c6. PMID: 23752087
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience.
Herring JC, Enquist EG, Chernoff A, Linehan WM, Choyke PL, Walther MM
J Urol 2001 Mar;165(3):777-81. PMID: 11176466
Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype.
Lubensky IA, Schmidt L, Zhuang Z, Weirich G, Pack S, Zambrano N, Walther MM, Choyke P, Linehan WM, Zbar B
Am J Pathol 1999 Aug;155(2):517-26. doi: 10.1016/S0002-9440(10)65147-4. PMID: 10433944Free PMC Article

Recent systematic reviews

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

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