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ISSN 2063-5346
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Brief Overview about Acute Lymphoblastic Leukemia and Its Molecular subtypes

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Alaa K. Fawzy , Noha A. Rezk , Marwa Zakaria , Hend Sameh
» doi: 10.48047/ecb/2023.12.1.647

Abstract

Acute lymphocytic leukemia (ALL) is a malignancy of B or T lymphoblasts characterized by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors which ultimately leads to the replacement of bone marrow elements and other lymphoid organs resulting in a characteristic disease pattern. ALL accounts for approximately 2 percent of the lymphoid neoplasms in the United States and occurs slightly more frequently in males than females, and three times as frequently in Caucasians as in African-Americans. Patients typically present with symptoms related to anemia, thrombocytopenia, and neutropenia due to the replacement of the bone marrow with the tumor. Symptoms can include fatigue, easy or spontaneous bruising and/or bleeding, and infections. About 75% of childhood ALL patients have recurring chromosomal alterations either aneuploidy or translocations, which can be detected by methods varying from karyotyping which identifies large alterations to whole genome sequencing which detect cryptic changes in the entire genome. Identification of these abnormalities is crucial for optimum disease evaluation, risk stratification, and treatment planning. Up to 10% of childhood ALL is T-ALL however, B-ALL represents 90%, including 31% with B-ALL with high hyperdiploidy, 21% B-ALL with ETV6::RUNX1, 7% other cytogenetic abnormalities (e.g.: B-ALL with BCR::ABL1, ALL with KMT2A, nearhaploidy/low haploidy, B-ALL with TCF3::PBX1, B-ALL with TCF3::HLF and B-ALL with IGH::IL3), and 30% of B-ALL with not identified specific genetic abnormalities, termed “B-other”

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