Pre-B-cell acute lymphoblastic leukemia with bulk extramedullary disease and chromosome 22 (EWSR1) rearrangement masquerading as Ewing sarcoma

Jakovljević, Gordana and Nakić, Melita and Rogošić, Srđan and Kardum-Skelin, Ika and Mrsić-Davidović, Sanja and Zadro, Renata and Krušlin, Božo (2010) Pre-B-cell acute lymphoblastic leukemia with bulk extramedullary disease and chromosome 22 (EWSR1) rearrangement masquerading as Ewing sarcoma. Pediatric Blood & Cancer, 54 (4). pp. 606-9. ISSN 1545-5009

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Abstract

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.

Item Type: Article
MeSH: Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Child, Preschool ; Chromosomes, Human, Pair 22/genetics ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Oncogene Proteins, Fusion/genetics ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Sarcoma, Ewing's/diagnosis ; Soft Tissue Neoplasms/diagnosis ; Soft Tissue Neoplasms/drug therapy ; Soft Tissue Neoplasms/genetics ; Transcription Factors/genetics
Departments: Katedra za patologiju
Depositing User: Marijan Šember
Status: Published
Creators:
CreatorsEmail
Jakovljević, GordanaUNSPECIFIED
Nakić, MelitaUNSPECIFIED
Rogošić, SrđanUNSPECIFIED
Kardum-Skelin, IkaUNSPECIFIED
Mrsić-Davidović, SanjaUNSPECIFIED
Zadro, RenataUNSPECIFIED
Krušlin, BožoUNSPECIFIED
Date: April 2010
Date Deposited: 02 Dec 2011 10:42
Last Modified: 02 Dec 2011 10:42
Subjects: /
Related URLs:
URI: http://medlib.mef.hr/id/eprint/1410

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