Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation

Pediatr Blood Cancer. 2017 Sep;64(9). doi: 10.1002/pbc.26460. Epub 2017 Jan 23.

Abstract

We report a 1-year-old female child presenting with hypereosinophilia who was found to have concurrent myeloid sarcoma and a central nervous system (CNS) atypical teratoid/rhabdoid tumor (AT/RT). She was later found to have a germline mutation in SMARCB1. Concurrent hematologic malignancy and CNS AT/RT have not previously been described in the context of a SMARCB1 loss-of-function germline mutation.

Keywords: SMARCB1; brain tumors; eosinophilia; myeloid sarcoma.

Publication types

  • Case Reports

MeSH terms

  • Eosinophilia / etiology*
  • Female
  • Germ-Line Mutation*
  • Humans
  • Infant
  • Neoplasms, Multiple Primary / complications
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Rhabdoid Tumor / complications
  • Rhabdoid Tumor / genetics*
  • Rhabdoid Tumor / pathology
  • SMARCB1 Protein / genetics*
  • Sarcoma, Myeloid / complications
  • Sarcoma, Myeloid / genetics*
  • Sarcoma, Myeloid / pathology
  • Teratoma / complications
  • Teratoma / genetics*
  • Teratoma / pathology

Substances

  • SMARCB1 Protein
  • SMARCB1 protein, human

Supplementary concepts

  • Teratoid Tumor, Atypical