Most chronic myeloid leukemia (CML) patients show the Philadelphia chromosome (Ph) arising from the reciprocal t(9;22), but 5-10% present variants of this translocation involving different breakpoints besides 9q34 and 22q11. WE REPORT THE NON SIMULTANEOUS OCCURRENCE OF TWO DIFFERENT TYPES OF PH TRANSLOCATION IN A CML PATIENT: a t(9;22)(q34;q11) standard and a three-way variant t(9;11;22)(q34;p15;q11). Bone marrow cells with standard translocation did not have BCR/ABL kinase domain (KD) mutations and were sensitive to imatinib therapy. In contrast, bone marrow cells with the variant translocation showed two BCR/ABL KD mutations and were resistant to imatinib, thus inducing transformation to the blast phase and karyotype evolution.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3850369 | PMC |
| http://dx.doi.org/10.1016/j.lrr.2013.07.004 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An MDS Patient with Deletion 20q and a t(9;22)(q34;q11.2): A Case Report and Review of the Literature.
J Assoc Genet Technol
January 2024
The International Circle of Genetics Studies, Stony Brook Chapter, NY.
We report a 76-year-old male patient with myelodysplastic syndrome (MDS) with a t(9;22) and deletion 20q only by FISH. Past medical history is significant for prostate cancer status post radiation therapy and a 28-pack-year smoking history. In 2016, the patient developed a DVT and incidentally was found to have a BCR::ABL1 (p210) by PCR analysis (level of 0.
View Article and Find Full Text PDFEnhanced induction of apoptosis in chronic myeloid leukemia cells through synergistic effect of telomerase inhibitor MST-312 and imatinib.
Mol Biol Rep
November 2024
Cellular and Molecular Research Center, Gerash University of Medical Sciences, Gerash, Iran.
Background: Chronic Myeloid Leukemia (CML), accounting for 15-20% of adult leukemia cases, is marked by the Philadelphia chromosome, resulting from the t(9;22)(q34;q11) translocation. This leads to uncontrolled cell proliferation and survival. Imatinib therapy lowers BCR-ABL levels, influencing telomere-associated proteins and increasing telomerase accessibility, indirectly boosting its activity.
View Article and Find Full Text PDFComparing de novo chronic myeloid leukemia in blastic phase with Philadelphia chromosome-positive acute lymphoblastic leukemia after allogeneic hematopoietic cell transplantation.
Cancer
January 2025
Department of Hematology, Kanagawa Cancer Center, Yokohama, Japan.
Background: De novo chronic myeloid leukemia in blastic phase (CML-BP) showing lymphoid immunophenotype mimics Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph-positive ALL). Although upfront allogeneic hematopoietic cell transplantation (HCT) is considered in both diseases, it is not yet clear whether the transplant outcomes are also similar.
Methods: Using a registry database, the transplant outcomes between de novo CML-BP and Ph-positive ALL in negative-minimal residual disease (MRD), positive MRD, and nonremission cohorts were compared, respectively.
Real World Outcomes with Treatment Free Remission in Chronic Myeloid Leukemia-Experience from a Tertiary Care Cancer Centre.
Indian J Hematol Blood Transfus
October 2024
Department of Medical Oncology, Tata Memorial Hospital, Homi Bhaba National Institute, Mumbai, 400012, India.
Chronic myeloid leukaemia (CML) is caused by balanced translocation t(9::22)(q34;q11) resulting in formation of pathogenic BCR-ABL fusion gene. Tyrosine kinase inhibitors (TKI) have revolutionised the treatment of CML. Ongoing treatment with TKI leads to side effects and has financial impact.
View Article and Find Full Text PDFExpression of and as potential biomarkers in chronic myeloid leukemia patients in Brazil.
Front Oncol
October 2024
Laboratory for Applied Science and Technology in Health, Carlos Chagas Institute, Oswaldo Cruz Foundation (Fiocruz), Curitiba, Brazil.
Article Synopsis
- - Chronic myeloid leukemia (CML) is characterized by a specific genetic translocation (BCR::ABL1) that serves as a primary biomarker for diagnosis and prognosis, but research is exploring additional potential biomarkers like long noncoding RNAs (lncRNAs) and mRNAs.
- - A study utilizing RNA sequencing compared gene expression in 6 CML patients with high expression levels to 6 healthy individuals, followed by validation using RT-qPCR on samples from 87 CML patients and 42 healthy controls.
- - The findings indicated lower expression levels of certain genes in CML patients, and a relationship was observed where higher levels of one gene are linked to reduced expression of another in the context of treatment with imatin
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!