©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRenal cancer/hypernephroma, inherited; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Renal cancer/ hypernephroma, inherited, comprising 18 guideline-curated genes and altogether 21 curated genes according to the clinical signs

ID
NP9485
Number of genes
21 Accredited laboratory test
Examined sequence length
39,1 kb (Core-/Core-canditate-Genes)
41,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AKT11443NM_005163.2AD
BAP12190NM_004656.4AD
CDC731596NM_024529.5AD
FH1533NM_000143.4AD
FLCN1740NM_144997.7AD
MET4227NM_001127500.3AD
PIK3CA3207NM_006218.4AD
PTEN1212NM_000314.8AD, Sus
SDHA1995NM_004168.4AD
SDHB843NM_003000.3AD
SDHC510NM_003001.5AD
SDHD480NM_003002.4AD, Sus
SEC23B2304NM_006363.6AD
SMARCA45040NM_001128849.3AD
SMARCB11158NM_003073.5AD
TSC13495NM_000368.5AD
TSC25424NM_000548.5AD
VHL642NM_000551.4AD
CDKN2B417NM_004936.4AD
MITF1260NM_000248.4AD
TMEM127717NM_017849.4AD

Informations about the disease

Clinical Comment

Hereditary renal carcinomas could account for 5-8% of all renal carcinomas. The majority of primary renal malignancies are renal cell carcinomas (RCCs), which often have an early age of onset (≥45 years), typical histology, and frequent bilaterality and multicentricity of primary tumors. The aggressiveness of RCCs varies depending on the syndrome and the particular mutation. In RCC patients without the clear cell RCC subtype, the high-risk germline mutations are more frequent (12%). More than 15 syndromes with inherited susceptibility to renal cancer have been identified, and there are more than 25 known genes associated with them. Most renal malignancies are dominantly inherited. The aggressiveness of inherited renal cell carcinomas varies by syndrome and mutation. The diagnostic yield obtained by molecular genetics is currently unknown. Thus, a negative result does not represent any exclusion of clinical diagnosis.

Reference: DOI: 10.5772/intechopen.91933

 

Synonyms
  • Alias: Hereditary papillary renal carcinoma with type 1 papillary tumors
  • Alias: Renal [cell] carcinoma
  • Alias: Renal cell carcinoma, clear cell type
  • Alias: Renal cell carcinoma, solitary papillary type 2
  • Alias: Renal hemangioblastoma
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
  • Allelic: Lhermitte-Duclos disease (PTEN)
  • Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
  • Allelic: Neurodegeneration with ataxia and late-onset optic atrophy (SDHA)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • Cowden syndrome 1 (PTEN)
  • Cowden syndrome 5 (PIK3CA)
  • Cowden syndrome 6 (AKT1)
  • Cowden syndrome 7 (SEC23B)
  • Leiomyomatosis and renal cell cancer (FH)
  • Paragangliomas 5 (SDHA)
  • Renal carcinoma, chromophobe, somatic (FLCN)
  • Renal cell carcinoma, papillary (PRCC)
  • Renal cell carcinoma, papillary, 1, familial and somatic (MET)
  • Renal cell carcinoma, somatic (VHL)
  • Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Tumor predisposition syndrome (BAP1)
  • von Hippel-Lindau syndrome (VHL)
Heredity, heredity patterns etc.
  • AD
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined