Scientists identify new subtypes of B progenitor acute lymphoblastic leukemia

February 02, 2019 Source: Ministry of Science and Technology

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On January 14th, researchers such as the St. Jude Children's Research Hospital in the United States published an article entitled "PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia" at Nature Genetics, which integrates genomic analysis to target the transcription factor PAX5 gene mutation. , defines a new subtype of B progenitor acute lymphoblastic leukemia.

Recent genomic studies have identified a new subtype of B-progenitor acute lymphoblastic leukemia (B-ALL) caused by chromosomal rearrangements, but no initial genetic alterations have been found in many cases. In this study, researchers reclassified B-ALL by comprehensively analyzing genomic data from 1988 children and adults, including 23 cases caused by chromosomal rearrangements, sequence variations, or heterogeneous genomic alterations. The prevalence of subtypes, many of which subtypes, showed significant changes with age. Two of these subtypes are defined by the B lymphocyte transcription factor gene PAX5 mutation. One is PAX5alt (7.4%), with rearrangement, intragenic amplification or mutation of a variety of different PAX5 changes; another subtype is PAX5 with p.Pro80Arg amino acid mutation and PAX5 biallelic mutation. Researchers have found that the amino acid mutation p.Pro80Arg in the Pax5 biallelic gene in mice can impair the development of B lymphocytes and promote the development of B-ALL. These results indicate that transcriptome sequencing analysis can be used for the defined classification of B-ALL and the important role of the PAX5 gene in the diagnosis of B lymphocyte maturation and leukemia.

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