Malignant Rhabdoid Tumor of the Liver (MRTL)

Overview

Malignant rhabdoid tumor of the liver (MRTL) is a rare pediatric malignancy, the liver-specific variant of extra-cranial malignant rhabdoid tumor. In the OncoTree hierarchy it is a child of LIVER and carries its own main type (Malignant Rhabdoid Tumor of the Liver), distinct from the kidney-primary code MRT. Like MRT, it is driven by biallelic inactivation of SMARCB1. Only 2 of 67 primary extra-cranial MRT cases in the largest published multi-omic reference cohort were liver-site tumors, limiting site-specific biology for MRTL.

Cohorts in the corpus

  • mrt_bcgsc_2016: 2 liver-site MRTs out of 67 primary extra-cranial cases banked by the Children’s Oncology Group; both included in the multi-omic dataset alongside 58 kidney and 7 soft-tissue cases PMID:26977886

Recurrent alterations

  • SMARCB1 — biallelic inactivation is the near-universal driver of extra-cranial MRT including the liver variant; all 39/40 WGS-profiled cases (including the two liver cases) are SMARCB1-deficient PMID:26977886
  • Somatic genome is otherwise quiet (median 0.231 mutations/Mb, median 5 non-synonymous substitutions/case) PMID:26977886
  • Liver-site cases were enriched in mRNA sub-group 1 (AT/RT-like; all 6 extra-renal cases were in this sub-group; Fisher’s exact P=0.04), though sample size is very small PMID:26977886
  • PIPseq cohort: SMARCA4 R1192C identified in hepatic rhabdoid tumor as EZH2-inhibitor target; SMARCB1 homozygous deletion chr22q11.23 with biallelic loss of expression identified in a second hepatic rhabdoid tumor — also EZH2-inhibitor target PMID:28007021

Subtypes

  • See MRT for multi-omic sub-group definitions (miRNA, mRNA, methylation); liver-site tumors fall predominantly in mRNA sub-group 1 (AT/RT-like) PMID:26977886

Therapeutic landscape

  • No prospective treatment data reported in the corpus; therapeutic inferences mirror those for MRT PMID:26977886

Sources

  • PMID:26977886 — Chun et al., integrative multi-omic reference of 40 extra-cranial MRTs; 2 of 67 cases were liver-site (MRTL)

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