title: Concurrent myeloid sarcoma, atypical teratoid/rhabdoid tumor, and hypereosinophilia in an infant with a germline SMARCB1 mutation.
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.
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Metts
authors.affiliation: Department of Pathology, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Sunita I
authors.initials: SI
authors.lastname: Park
authors.affiliation: 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.
authors.forename: Bruno P
authors.initials: BP
authors.lastname: Soares
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, California.
authors.forename: Cindy
authors.initials: C
authors.lastname: Fong
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, California.
authors.forename: Jaclyn A
authors.initials: JA
authors.lastname: Biegel
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
authors.forename: Kelly C
authors.initials: KC
authors.lastname: Goldsmith
mesh_terms: D004802:Eosinophilia / Q000209:etiology*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018335:Rhabdoid Tumor / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000071796:SMARCB1 Protein / Q000235:genetics*; D023981:Sarcoma, Myeloid / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013724:Teratoma / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human
keywords: SMARCB1; brain tumors; eosinophilia; myeloid sarcoma