Background: The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. About 3-5 % of cases with additional chromosomal abnormalities, including structural and numerical ones, are reported to include a complex translocation t(8;21;N).
Case Presentation: Here we report a chromosome rearrangement observed in a 19 years-old female diagnosed with AML-M2. When subjected to (molecular) cytogenetic analyses a complex three-way translocation involving chromosomes 8, 17 and 21 was detected, forming not a t(8;21;17) as one would expect. Real time-polymerase chain reaction analysis using 6 AML specific markers showed the presence of RUNX1/RUNX1T1 fusion gene transcripts identical to those found in classical translocation t(8;21) coupled with presence of FLT3-ITD mutation identified by fragment analysis.
Conclusions: The present case highlights importance of complex rearrangements rarely encountered in AML, suggesting that all involved regions harbor critical candidate genes regulating the pathogenesis of AML, leading to novel as well as well-known leukemia associated chromosomal aberrations.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8140419 | PMC |
| http://dx.doi.org/10.1186/s13039-021-00541-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Editorial: Molecular MRD testing in patients with acute myeloid leukemia.
Bone Marrow Transplant
January 2025
Department of Hematologic Oncology and Blood Disorders, Levine Cancer Institute, Atrium Health, Wake Forest University School of Medicine, Charlotte, NC, USA.
Diverse real-life outcomes after intensive risk-adapted therapy for 1034 AML patients from the CETLAM Group.
Blood Cancer J
January 2025
Hospital de la Santa Creu i Sant Pau. Institut d'investigació Biomèdica Sant Pau (IIB SANT PAU) Department of Medicine, Universitat Autonoma of Barcelona, Barcelona, Spain.
Given the heterogeneity of acute myeloid leukemia patients, it is necessary to identify patients considered fit for intensive therapy but who will perform poorly, and in whom alternative approaches deserve investigation. We analyzed 1034 fit adults ≤70 years intensively treated between 2012 and 2022 in the CETLAM group. Young adults ( ≤ 60 years) presented higher remission rates and improved survival than older adults above that age (CR 79% vs.
View Article and Find Full Text PDFClinical Outcomes of Patients With Newly Diagnosed Acute Myeloid Leukemia Receiving Treatment in a Safety-Net Hospital System.
Clin Lymphoma Myeloma Leuk
December 2024
Section of Benign Hematology, Department of Internal Medicine, MD Anderson Cancer Center, Houston, TX. Electronic address:
Background: 'Standard of care' therapies for adult acute myeloid leukemia (AML) have yielded 5-year overall survival (OS) rates of 30%-45 %. Risk stratification and novel targeted therapies have improved 5-year OS rates to >75 % for certain groups in specialized centers.
Patients And Methods: This is a retrospective cohort analysis of outcomes in patients ≥18 years with newly diagnosed AML treated between 2005 and 2019 in the Harris Health County, Safety-Net Hospital System in Houston, TX.
Omics approaches: Role in acute myeloid leukemia biomarker discovery and therapy.
Cancer Genet
January 2025
PhD of Hematology, Assistant Professor, Department of Medical Laboratory Sciences, School of Paramedical Sciences, Hamadan University of Medical Sciences, Hamadan, Iran. Electronic address:
Acute myeloid leukemia (AML) is the most common acute leukemia in adults and has the highest fatality rate. Patients aged 65 and above exhibit the poorest prognosis, with a mere 30 % survival rate within one year. One important issue in optimizing outcomes for AML patients is their limited ability to predict responses to specific therapies, response duration, and likelihood of relapse.
View Article and Find Full Text PDFFT538, iPSC-derived NK cells, enhance AML cell killing when combined with chemotherapy.
J Cell Mol Med
January 2025
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Induced pluripotent stem cell (iPSC)-derived natural killer (NK) cells offer an opportunity for a standardized, off-the-shelf treatment with the potential to treat a wider population of acute myeloid leukaemia (AML) patients than the current standard of care. FT538 iPSC-NKs express a high-affinity, noncleavable CD16 to maximize antibody dependent cellular cytotoxicity, a CD38 knockout to improve metabolic fitness, and an IL-15/IL-15 receptor fusion preventing the need for cytokine administration, the main source of adverse effects in NK cell-based therapies. Here, we sought to evaluate the potential of FT538 iPSC-NKs as a therapy for AML through their effect on AML cell lines and primary AML cells.
View Article and Find Full Text PDFWant 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!