CYP21A2

Overview

CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2, also known as 21-hydroxylase) is a steroidogenic enzyme in the adrenal cortex that catalyzes key steps in the biosynthesis of cortisol and aldosterone. Germline mutations in CYP21A2 cause congenital adrenal hyperplasia. In cancer, CYP21A2 serves as a transcriptional marker of adrenocortical differentiation.

Alterations observed in the corpus

• CYP21A2 overexpressed in the cortical admixture PCC/PGL subtype alongside CYP11B1 and STAR; these adrenal cortex markers define the cortical admixture molecular subtype in the 173-patient TCGA PCC/PGL cohort PMID:28162975

Cancer types (linked)

• PHC / PGNG: CYP21A2 expression highest in the cortical admixture PCC/PGL subtype; expression-based subtype marker used in integrated mRNA clustering PMID:28162975

Co-occurrence and mutual exclusivity

• CYP21A2 overexpression co-occurs with CYP11B1 and STAR overexpression in the cortical admixture subtype; germline MAX mutations enriched in this subtype PMID:28162975

Therapeutic relevance

• CYP21A2 serves as a subtype marker rather than a direct therapeutic target in PCC/PGL in this study.

Open questions

• The relationship between adrenocortical marker expression (CYP21A2, CYP11B1, STAR) and the cortical admixture subtype’s clinical behavior versus tissue-sampling artifact remains to be resolved PMID:28162975

Sources

• PMID:28162975

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