SAMHD1

Overview

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1) encodes a dNTPase that restricts retrovirus replication and is involved in innate immune signaling. In CLL, SAMHD1 was identified as a novel driver candidate, linking immune pathway dysregulation to CLL pathogenesis.

Alterations observed in the corpus

  • Identified as a novel CLL driver candidate in WES of 160 CLL tumors (Broad Institute cohort); SAMHD1 mutations implicate the innate immune pathway in CLL PMID:23415222

Cancer types (linked)

  • CLL: novel driver candidate; validation in independent cohorts required PMID:23415222

Co-occurrence and mutual exclusivity

  • No specific co-occurrence or mutual exclusivity patterns reported in the corpus.

Therapeutic relevance

  • No direct therapeutic relevance reported in the corpus; SAMHD1 loss may affect cellular dNTP pools and sensitivity to nucleoside analog chemotherapy (e.g., cladribine, fludarabine), a relationship that requires investigation.

Open questions

  • Validation of SAMHD1 as a true CLL driver in independent cohorts is needed; the study flagged it as a candidate pending further confirmation PMID:23415222

Sources

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