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PMID: 41574496 Published · ppublish English

EWSR1 Fusion Driven Pediatric B-Acute Lymphoblastic Leukemia: Diagnosis and Review of Literature.

Talman M, Yenamandra AK, Akkari Y, Tsuchiya K, Borinstein SC, Lopez-Hisijos N, Smith BN

Abstract

B-lymphoblastic leukemia/lymphoma (B-ALL) is the most prevalent childhood malignancy, with improved survival rates attributed to advances in diagnosis and treatment. Herein, we present a case of B-ALL in a 6-year-old female who presented with clinical symptoms of leukemia, including weight loss, fever, and lymphadenopathy. Molecular and cytogenetics study revealed a t(1;22) resulting in an EWSR1::PBX1 fusion. This case highlights diagnostic and prognostic implications of this recently recognized distinct EWSR1 entity.

Keywords
B-lymphoblastic leukemia/lymphoma (B-ALL) EWSR1::PBX1 fusion RNA sequencing cytogenetics
Article Info
Journal
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Abbr.
Pediatr Dev Pathol
ISSN
1615-5742
Language
English
Country/Region
United States
NLM ID
9809673
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