IllnessRenal cancer/hypernephroma, inherited; differential diagnosis

NGS +

[Sanger]

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

• 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)