Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

Pathol Int. 2021 Feb;71(2):155-160. doi: 10.1111/pin.13056. Epub 2020 Dec 30.


We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2-year-old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21-q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late-onset rhabdoid tumor of the kidney.

Keywords: SMARCB1; atypical teratoid/rhabdoid tumor (AT/RT); favorable outcome; late onset; rhabdoid tumor of the kidney (RTK); rhabdoid tumor predisposition syndrome (RTPS).

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / genetics
  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Child
  • Child, Preschool
  • Fourth Ventricle
  • Humans
  • Kidney Neoplasms / diagnosis*
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / pathology
  • Male
  • Rhabdoid Tumor / diagnosis*
  • Rhabdoid Tumor / genetics
  • Rhabdoid Tumor / pathology
  • SMARCB1 Protein / genetics
  • Sequence Deletion


  • Biomarkers, Tumor
  • SMARCB1 Protein
  • SMARCB1 protein, human

Supplementary concepts

  • Rhabdoid Tumor Predisposition Syndrome 1