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

Jonathan L Metts; Sunita I Park; Bruno P Soares; Cindy Fong; Jaclyn A Biegel; Kelly C Goldsmith

doi:10.1002/pbc.26460

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.

Authors

Jonathan L Metts¹, Sunita I Park², Bruno P Soares³, Cindy Fong⁴, Jaclyn A Biegel⁴, Kelly C Goldsmith¹

Affiliations

¹ Division of Hematology/Oncology, Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
² Department of Pathology, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
³ Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
⁴ Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, California.

PMID: 28111898
DOI: 10.1002/pbc.26460

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