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Karyotype evolution of myelodysplastic syndrome and acute myeloid leukemia with TP53 mutations.
Int J Hematol
February 2025
Department of Hematology, Japanese Red Cross Kyoto Daiichi Hospital, 15-749, Honmachi, Higashiyama-Ku, Kyoto, 605-8981, Japan.
To clarify karyotype evolution of myelodysplastic syndrome or acute myeloid leukemia with TP53 mutations (MDS/AML-TP53), we analyzed G-banding of bone marrow aspiration samples of eight patients with MDS/AML-TP53 and visualized the evolutions as phylogenetic trees. With very few exceptions, the initial roots of these trees and all branches longitudinally had -5/5q- and -7/7q- in common. Time series data of the karyotypes obtained in six patients showed highly complex karyotype evolutions, such as combined branched, linear, parallel, and macro-evolutions.
View Article and Find Full Text PDFEmergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Int J Mol Sci
January 2025
IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", 40138 Bologna, Italy.
Monosomy 7 and deletion 7q are common chromosomal abnormalities in myeloid malignancies, and they are associated with a poor prognosis. The mechanism underlying their acquisition remains elusive. We identified a cohort of 24 patients exhibiting clones with different chromosome 7 abnormalities, such as deletion 7q, unstable derivatives (ring chromosomes or 'naked' centromeres), and monosomy 7.
View Article and Find Full Text PDFImaging flow cytometric detection of del(17p) in bone marrow and circulating plasma cells in multiple myeloma.
Int J Lab Hematol
June 2024
School of Biomedical Sciences, The University of Western Australia, Crawley, Western Australia, Australia.
Background: Detection of del(17p) in myeloma is generally performed by fluorescence in situ hybridization (FISH) on a slide with analysis of up to 200 nuclei. The small cell sample analyzed makes this a low precision test. We report the utility of an automated FISH method, called "immuno-flowFISH", to detect plasma cells with adverse prognostic risk del(17p) in bone marrow and blood samples of patients with myeloma.
View Article and Find Full Text PDFClinical application of the HM-1000 image processing for HER2 fluorescence in situ hybridization signal quantification in breast cancer.
Diagn Pathol
February 2024
Pathology Department, Vall d'Hebron University Hospital, Passeo Vall d'Hebron, 119-129, 08035, Barcelona, Spain.
Article Synopsis
- Accurate quantification of HER2 gene amplification is crucial for predicting treatment response and prognosis in breast cancer, with FISH being the gold standard but having limitations.
- This study explored a novel super-resolution fluorescence microscopy technique to enhance FISH signal visualization and improve HER2 classification based on 14 breast cancer tissue samples.
- Results showed that super-resolution microscopy provided clearer images and improved signal counts, leading to better classification of HER2 FISH statuses, including the detection of previously ambiguous cases.
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