SBDS
Overview
SBDS (Shwachman-Bodian-Diamond Syndrome) encodes a ribosome biogenesis factor required for maturation of the 60S ribosomal subunit. Germline loss-of-function mutations cause Shwachman-Diamond syndrome, a rare congenital disorder associated with increased risk of myeloid malignancy. In cancer genomics, SBDS has been observed with divergent somatic allelic states across metastatic sites, making it a marker for clonal divergence during tumor evolution.
Alterations observed in the corpus
- Divergent allelic state for SBDS observed across CRPC-Adeno lymph-node, CRPC-Adeno bone, and CRPC-NE liver metastases in patient WCMC161, illustrating clonal divergence during neuroendocrine transdifferentiation PMID:26855148
Cancer types (linked)
- Castration-resistant prostate cancer (CRPC): divergent allelic state across distinct metastatic phenotypes (CRPC-Adeno and CRPC-NE) in a single patient PMID:26855148
Co-occurrence and mutual exclusivity
- Divergent SBDS allelic state co-occurs with clonal divergence events separating CRPC-Adeno from CRPC-NE lineages in patient WCMC161 PMID:26855148
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus.
Open questions
- Whether SBDS allelic divergence is a driver of or a passenger event in neuroendocrine transdifferentiation remains unresolved PMID:26855148
Sources
This page was processed by entity-page-writer on 2026-05-14.