Academic Journal
Cytogenomic landscape of adult Philadelphia chromosome-positive acute lymphoblastic leukemia in Malaysia.
| Τίτλος: | Cytogenomic landscape of adult Philadelphia chromosome-positive acute lymphoblastic leukemia in Malaysia. |
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| Συγγραφείς: | Phan CL; Department of Haematology, Hospital Ampang, Jalan Mewah Utara, Pandan Mewah, 68000 Ampang, Selangor, Malaysia; Ministry of Health Malaysia; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, Universiti Malaya, 50603 Kuala Lumpur, Malaysia. Electronic address: chinleephan@gmail.com., Zakaria Z; Ministry of Health Malaysia; Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research, National Institute of Health, Block C, No.1, Jalan Setia Murni U13/52, Seksyen U13 Setia Alam, 40170 Shah Alam, Selangor, Malaysia. Electronic address: drzubai@gmail.com., Yegappan S; Department of Haematology, Hospital Ampang, Jalan Mewah Utara, Pandan Mewah, 68000 Ampang, Selangor, Malaysia; Ministry of Health Malaysia. Electronic address: mani14141@gmail.com., Khang TF; Institute of Mathematical Sciences, Faculty of Science, Universiti Malaya, 50603 Kuala Lumpur, Malaysia. Electronic address: tfkhang@um.edu.my., Ng CC; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, Universiti Malaya, 50603 Kuala Lumpur, Malaysia. Electronic address: ccng@um.edu.my. |
| Πηγή: | Cancer genetics [Cancer Genet] 2026 Sep; Vol. 306-307, pp. 54-62. Date of Electronic Publication: 2026 May 20. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: New York, NY : Elsevier |
| Ιατρικοί όροι (MeSH): | Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma*/pathology , Philadelphia Chromosome*, Humans ; Malaysia ; Female ; Comparative Genomic Hybridization ; Adult ; Male ; Middle Aged ; DNA Copy Number Variations ; Polymorphism, Single Nucleotide ; Chromosome Aberrations ; Young Adult ; Aged ; Adolescent |
| Περίληψη: | Background: Philadelphia chromosome-positive acute lymphoblastic leukemia (-Ph+ ALL) is a high-risk leukemia often accompanied by additional genomic abnormalities beyond BCR::ABL1. Methods: We analyzed 74 newly diagnosed adult -Ph+ ALL patients. Additional chromosomal abnormalities (ACAs) were assessed by conventional cytogenetics in 51 patients and copy number variations (CNVs) by combined array comparative genomic hybridization plus single nucleotide polymorphism (array-CGH+SNP) in 43 patients. Results: ACAs were detected in 31 cases (60.8%), including complex karyotypes in 11 (35.5%). CNVs were identified in 38 cases (88.4%) and were predominantly deletions (69.2%). Recurrent abnormalities included double Ph chromosome, monosomy 7, chromosomal gains at 8q, 9q34, 22q11, and losses at 7p, 9p, and 20q. The t(3;9;22) was the most frequent t(9;22) variant (12.9%), despite being rare in previous studies of adult Ph+ ALL. IKZF1 deletions were most frequent (91.7%), followed by CDKN2A/B (44.4%), PAX5 (38.9%) and RB1 (30.6%). IKZF1 co-deletions with CDKN2A/B and/or PAX5 occurred in 66.7%. IKZF1 and 22q11.22 co-deletions occurred in 34.2%, and VPREB1 deletions in 15.8%; both have been associated with adverse outcomes in ALL. Copy-neutral loss of heterozygosity >5 Mb was detected in 16.3%, frequently involving chromosome 9p and encompassing the CDKN2A/B loci. Discussions: Adult Ph+ ALL in this multi-ethnic cohort exhibited marked genomic heterogeneity, with frequent submicroscopic alterations detectable only through integrated genomic profiling. Comprehensive genomic characterization is needed to better understand leukemogenesis and refine risk stratification. (Copyright © 2026 Elsevier Inc. All rights reserved.) |
| Competing Interests: | Declaration of competing interest The authors have no competing interest. |
| Contributed Indexing: | Keywords: Acute lymphoblastic leukemia; Additional chromosomal aberrations; Array-CGH+SNP; Cytogenomic; Philadelphia chromosome-positive |
| Entry Date(s): | Date Created: 20260605 Date Completed: 20260824 Latest Revision: 20260824 |
| Update Code: | 20260825 |
| DOI: | 10.1016/j.cancergen.2026.05.006 |
| PMID: | 42247916 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 2210-7762 |
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| DOI: | 10.1016/j.cancergen.2026.05.006 |