APEX1

Overview

APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1) is a key enzyme in the base excision repair pathway. In papillary renal cell carcinoma, APEX1 is activated as a downstream transcriptional target of the ACTG1-MITF oncogenic fusion.

Alterations observed in the corpus

• Activated as a downstream target of the ACTG1-MITF fusion in pRCC; implicated in the oncogenic transcriptional program driven by the fusion PMID:25401301

Cancer types (linked)

• PRCC: APEX1 upregulation driven by ACTG1-MITF fusion in papillary renal cell carcinoma PMID:25401301

Co-occurrence and mutual exclusivity

• APEX1 activation co-occurs with HIF1A and MET induction in ACTG1-MITF fusion-positive pRCC PMID:25401301

Therapeutic relevance

• APEX1 inhibition may be a therapeutic avenue in MITF-fusion-positive pRCC, though this is speculative and not yet tested clinically PMID:25401301

Open questions

• Whether APEX1 upregulation is required for transformation by ACTG1-MITF or is an epiphenomenon has not been tested PMID:25401301

Sources

• PMID:25401301

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