TLE1 Expression in Malignant Rhabdoid Tumor and Atypical Teratoid/Rhabdoid Tumor

Pediatr Dev Pathol. 2018 Nov-Dec;21(6):522-527. doi: 10.1177/1093526618761720. Epub 2018 Feb 28.

Abstract

Malignant rhabdoid tumors (MRT; atypical teratoid/rhabdoid tumor [ATRT] in the central nervous system) are aggressive tumors in infants and children which can overlap with other sarcomas, such as synovial sarcoma (SS). The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. However, stratification of cases for molecular analysis is not always straightforward or feasible. Recent literature suggests transducer-like enhancer of split 1 (TLE1) protein expression may distinguish SS from certain histologic mimics; however, this has not been investigated in MRT and ATRT. We stained whole-tissue sections of 18 archived cases of MRT and ATRT with TLE1. Nuclear expression was scored using a 4-tiered (0, 1+, 2+, and 3+) scale describing staining intensity, extent, or combination of both. The majority of MRT and ATRT cases showed some TLE1 immunoreactivity (n = 16; 89% for ≥1 + staining); 14 (78%) of total cases showed ≥2 + positivity using any of the 3 scoring systems. Over half (n = 10; 56%) of cases showed ≥2 + staining; 4 (22%) cases showed 3 + strong and diffuse TLE1 staining measured by all scoring systems in agreement. Although still of potential use, we urge caution in the interpretation of TLE1 when the differential diagnosis includes both SS and MRT or ATRT.

Keywords: Immunoreactive score; Remmele score; atypical teratoid/rhabdoid tumor; malignant rhabdoid tumor; synovial sarcoma; transducer-like enhancer of split 1.

MeSH terms

  • Adolescent
  • Biomarkers, Tumor / metabolism*
  • Child
  • Child, Preschool
  • Co-Repressor Proteins
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Male
  • Neoplasms, Complex and Mixed / diagnosis*
  • Neoplasms, Complex and Mixed / metabolism
  • Repressor Proteins / metabolism*
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / metabolism
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / metabolism
  • Teratoma / diagnosis*
  • Teratoma / metabolism

Substances

  • Biomarkers, Tumor
  • Co-Repressor Proteins
  • Repressor Proteins
  • TLE1 protein, human