PAX5 deletion is common and concurrently occurs with CDKN2A deletion in B-lineage acute lymphoblastic leukemia
Autor: | Jung Eun Choi, Sung-Soo Yoon, Dong Soon Lee, Myoung Hee Park, Byoung Kook Kim, Hyo Seop Ahn, Cha Ja She, Sang Mee Hwang, Hee Young Shin, Miyoung Kim |
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Rok vydání: | 2011 |
Předmět: |
Adult
Male Lineage (genetic) Adolescent Chromosomal translocation Biology Translocation Genetic CD19 Young Adult immune system diseases CDKN2A Precursor B-Cell Lymphoblastic Leukemia-Lymphoma hemic and lymphatic diseases Humans Lymphopoiesis Child Molecular Biology Cyclin-Dependent Kinase Inhibitor p16 In Situ Hybridization Fluorescence Aged Gene Rearrangement Regulation of gene expression Gene Expression Regulation Leukemic PAX5 Transcription Factor Infant Karyotype Cell Biology Hematology Middle Aged Prognosis Chromosome Banding Child Preschool biology.protein Cancer research Molecular Medicine Female PAX5 Gene Deletion |
Zdroj: | Blood Cells, Molecules, and Diseases. 47:62-66 |
ISSN: | 1079-9796 |
Popis: | The PAX5 is essential in normal B-cell lymphopoiesis and deregulation of PAX5 function is believed to contribute to leukemogenesis in B-ALL. We performed a comprehensive study using FISH, G-banding and IHC to identify PAX5 deletion and expression in 102 CD19+ clinical B-ALL cases (79 children and 33 adults) and investigated its relationship with common cytogenetic changes including BCR-ABL1, ETV6-RUNX1 and MLL rearrangements, and CDKN2A deletion. The incidences of translocations and deletions were 2.5% and 10.0% in children, and 0.0% and 18.2% in adults, respectively. The incidence of PAX5 deletion was higher than those of BCR-ABL1 (8.9%) or MLL rearrangements (5.1%) in children and than that of MLL rearrangement (3.1%) in adults. Most patients with PAX5 deletion (83.3% of children and 100.0% of adults with PAX5 deletion) had concurrent CDKN2A deletion. PAX5 deletions were detected both in patients with positive and negative PAX5 expression. In this study, we found that PAX5 is a common target in leukemogenesis of B-ALL along with CDKN2A. Owing to its frequent deletion in B-ALL, PAX5 could be used as one of the molecular markers in diagnosis and monitoring of the disease. No correlation between expression of PAX5 and deletion of PAX5 suggests allele-specific regulation. |
Databáze: | OpenAIRE |
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