Metts Jonathan L, Park Sunita I, Soares Bruno P, Fong Cindy, Biegel Jaclyn A, Goldsmith Kelly C
Division of Hematology/Oncology, Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
Department of Pathology, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
Pediatr Blood Cancer. 2017 Sep;64(9). doi: 10.1002/pbc.26460. Epub 2017 Jan 23.
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.
我们报告了一名1岁患有嗜酸性粒细胞增多症的女童，她同时患有髓系肉瘤和中枢神经系统（CNS）非典型畸胎样/横纹肌样肿瘤（AT/RT）。后来发现她在SMARCB1基因存在种系突变。之前尚未在SMARCB1功能丧失种系突变的背景下描述过同时存在血液系统恶性肿瘤和CNS AT/RT的情况。
