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Concurrent myeloid sarcoma,atypical teratoid/rhabdoid tumor,and hypereosinophilia in an infant with a germline SMARCB1 mutation |
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| Authors: | Jonathan L. Metts Sunita I. Park Bruno P. Soares Cindy Fong Jaclyn A. Biegel Kelly C. Goldsmith |
| Affiliation: | 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 |
| 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: | brain tumors eosinophilia myeloid sarcoma SMARCB1 |