DSCAM

Overview

DSCAM (Down Syndrome Cell Adhesion Molecule) encodes a neural cell adhesion molecule of the immunoglobulin superfamily involved in neural circuit formation, axon guidance, and cell migration. In the context of cancer genomics, DSCAM was identified as the only recurrently non-synonymously mutated gene beyond SMARCB1 in extra-cranial malignant rhabdoid tumors (MRT) in the Chun et al. (2016) integrative multi-omic study, though its driver status remains uncertain.

Alterations observed in the corpus

  • Recurrent heterozygous somatic missense substitutions (p.Val424Ile, p.Ser1354Thr) detected in 2/40 extra-cranial MRT cases by whole-genome sequencing; DSCAM was the only non-SMARCB1 gene with recurrent non-synonymous mutations in the cohort; flagged by the authors as possibly passenger given the low number PMID:26977886.

Cancer types (linked)

  • MRT (Malignant Rhabdoid Tumor of the Kidney): recurrent DSCAM missense mutations in 2/40 WGS cases; cohort was predominantly pediatric kidney MRT (58/67 primary tumors renal) PMID:26977886.
  • MRTL (Extra-Renal Malignant Rhabdoid Tumor): study included 7 soft-tissue and 2 liver MRT among 67 primary tumors; site-specific mutation frequencies not broken down PMID:26977886.

Co-occurrence and mutual exclusivity

  • Both DSCAM-mutant cases harbored the obligate SMARCB1 driver; no systematic co-occurrence patterns reported given the low mutation frequency PMID:26977886.

Therapeutic relevance

  • No direct therapeutic relevance established; the study is a descriptive reference landscape without treatment outcome claims. DSCAM’s role in cell adhesion and migration could theoretically intersect with the epithelial-to-mesenchymal transition biology observed in MRT mRNA sub-group 2, but this is speculative PMID:26977886.

Open questions

  • Driver vs. passenger status of the DSCAM p.Val424Ile and p.Ser1354Thr mutations is unresolved; the authors explicitly flag the low frequency (2/40) as insufficient to distinguish functional from incidental mutations.
  • Whether DSCAM loss-of-function contributes to the cell adhesion/migration program observed in MRT sub-group 2 has not been tested functionally.

Sources

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