Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141358 | PMC |
| http://dx.doi.org/10.1038/bcj.2016.43 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exploring treatment-driven subclonal evolution of prognostic triple biomarkers: Dual gene fusions and chimeric RNA variants in novel subtypes of acute myeloid leukemia patients with KMT2A rearrangement.
Drug Resist Updat
January 2025
Loma Linda University Cancer Center, Loma Linda, CA 92354, United States; Department of Basic Sciences, Loma Linda University, Loma Linda, CA 92354, United States. Electronic address:
Chromosomal rearrangements (CR) initiate leukemogenesis in approximately 50 % of acute myeloid leukemia (AML) patients; however, limited targeted therapies exist due to a lack of accurate molecular and genetic biomarkers of refractory mechanisms during treatment. Here, we investigated the pathological landscape of treatment resistance and relapse in 16 CR-AML patients by monitoring cytogenetic, RNAseq, and genome-wide changes among newly diagnosed, refractory, and relapsed AML. First, in FISH-diagnosed KMT2A (MLL gene, 11q23)/AFDN (AF6, 6q27)-rearrangement, RNA-sequencing identified an unknown CCDC32 (15q15.
View Article and Find Full Text PDFLactylation modulation identifies key biomarkers and therapeutic targets in KMT2A-rearranged AML.
Sci Rep
January 2025
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Acute Myeloid Leukemia (AML) with KMT2A rearrangements (KMT2Ar), found on chromosome 11q23, is often called KMT2A-rearranged AML (KMT2Ar-AML). This variant is highly aggressive, characterized by rapid disease progression and poor outcomes. Growing knowledge of epigenetic changes, especially lactylation, has opened new avenues for investigation and management of this subtype.
View Article and Find Full Text PDFA AML with a simultaneous false positive rearrangement: FISH interpretation pitfalls.
Hematology
December 2024
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Introduction: rearrangement () is a common genomic alteration in acute leukemia that can be effectively targeted by menin inhibitors. While FISH is the standard laboratory test for , false positives can occur.
Case Report: We present a case of AML in which both and were identified by karyotype analysis and FISH.
Segmental chromosome aberrations as a prognostic factor of neuroblastoma: a meta-analysis and systematic review.
Transl Pediatr
October 2024
Department of General Surgery, Children's Hospital of Hebei Province, Shijiazhuang, China.
Background: Segmental chromosome aberrations, defined as presence of aberrations, deletion, or imbalance in the chromosomal arms, have long been considered as a predictor of poor prognosis of patients with neuroblastoma. The objective of this meta-analysis is to quantitively analyze the hazard ratios (HRs) of different whole or segmental chromosome aberrations for overall survival (OS) rate or event-free survival (EFS) rate of patients with neuroblastoma.
Methods: Relevant studies about chromosome, neuroblastoma, predictor, prognosis, and survival published from the inception to April 2023 in the databases of PubMed, Embase, and Web of Science were searched, screened, and reviewed.
Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- The study discusses the prenatal diagnosis of Jacobsen syndrome in a 41-year-old pregnant woman, which was linked to specific chromosomal abnormalities detected through advanced genetic testing.
- The fetus exhibited multiple congenital anomalies including growth restrictions, heart defects, and physical deformities, prompting amniocentesis for further analysis.
- Chromosome microarray analysis (CMA) revealed significant deletions and duplications in chromosomes 11 and 8, respectively, confirming the diagnosis and illustrating the effectiveness of CMA in identifying complex genetic issues in prenatal cases.
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!