PDHB
Overview
PDHB (Pyruvate Dehydrogenase E1 Subunit Beta) encodes the beta subunit of the pyruvate dehydrogenase complex (PDH), which links glycolysis to the TCA cycle. It was identified as a significantly mutated gene in chromophobe renal cell carcinoma (chRCC), with combined PDHB and PRKAG2 mutations defining a metabolically dysregulated chRCC subtype.
Alterations observed in the corpus
- Significantly mutated in chRCC; combined PDHB and PRKAG2 mutations define a chRCC subtype with metabolic deregulation, potentially actionable via AMPK or PDH modulators; PDHB p.Arg105Leu inferred from a homologous germline lactic-acidosis mutation (not directly validated in tumors) PMID:25401301
Cancer types (linked)
- chRCC: significantly mutated; co-occurs with PRKAG2 mutations to define a metabolic subtype PMID:25401301
Co-occurrence and mutual exclusivity
- Co-occurs with PRKAG2 mutations in a chRCC metabolic subtype; PTEN, FAAH2, PDXDC1, and ZNF765 are other significantly mutated genes in chRCC PMID:25401301
Therapeutic relevance
- Combined PDHB + PRKAG2 mutant chRCC subtype proposed as potentially actionable via AMPK or PDH modulators; no clinical data available PMID:25401301
Open questions
- Functional consequence of PDHB p.Arg105Leu inferred from homologous germline mutation but not directly validated in cancer cells; oncogenic vs passenger status unestablished PMID:25401301
Sources
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