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Pre‐B‐cell acute lymphoblastic leukemia with bulk extramedullary disease and chromosome 22 (EWSR1) rearrangement masquerading as Ewing sarcoma
Author(s) -
Jakovljević Gordana,
Nakić Melita,
Rogošić Srđan,
KardumSkelin Ika,
MrsićDavidović Sanja,
Zadro Renata,
Krušlin Božo
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22365
Subject(s) - medicine , sarcoma , lymphoblast , fli1 , lymphoblastic leukemia , gene rearrangement , leukemia , chemotherapy , ewing's sarcoma , pathology , cancer research , chromosomal translocation , gene , cell culture , biology , biochemistry , genetics
We report a 2‐year‐old female with a subcutaneous tumor who was initially misdiagnosed as suffering from Ewing sarcoma with a positive EWSR1 rearrangement and EWS/FLI1 transcript. After finding lymphoblasts in peripheral blood, the diagnosis of acute lymphoblastic leukemia was established. This necessitated further analysis of the subcutaneous tumor. The tissue was positive for immature B‐cell markers and an immunoglobulin heavy chain gene rearrangement, which confirmed the final diagnosis of common type acute lymphoblastic leukemia with bulk extramedullary disease. The patient was treated with chemotherapy and was in remission 30 months after the diagnosis. Pediatr Blood Cancer 2010;54:606–609. © 2009 Wiley‐Liss, Inc.