The aim of this study was to elucidate the relationship between clonal and normal haematopoiesis in chronic myelogenous leukemia (CML). Thirteen female patients who reached complete cytogenetic response (CCR) after Imatinib treatment were studied. Although all the study patients exhibited a polyclonal pattern of X inactivation, p210 BCR/ABL transcript remained detectable in all cases by nested RT-PCR. This study also demonstrated the presence of p190 transcript in nine out of 13 study patients. A longer follow-up analysis is needed to clarify the prognostic value of these results. The recent observation that clonal cytogenetic abnormalities may occur in CML patients in polyclonal remission after imatinib suggests that a neoplastic stem cell lacking BCR/ABL rearrangement may acquire further cytogenetic alterations other than Philadelphia chromosome.
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http://dx.doi.org/10.1080/10428190500525607 | DOI Listing |
Life (Basel)
December 2024
Laboratory of Bioinformatics and Genomics, Federal University of Viçosa, Rio Paranaíba 38810-000, MG, Brazil.
We assembled and annotated the complete mitochondrial genomes of (hoary fox), (bush dog), (white-lipped peccary), and (Brazilian free-tailed bat). The mitogenomes exhibited typical vertebrate structures, containing 13 protein-coding genes, 22 tRNA genes, 2 ribosomal RNA genes, and a D-loop region. Phylogenetic reconstruction using the 13 protein-coding genes revealed robust relationships among species within Carnivora, Chiroptera, and Artiodactyla, corroborating previous studies.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Department of Hematopathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA.
partial tandem duplication (PTD) involves intragenic duplications and has been associated with poorer prognosis. In this study, we evaluated PTD in 1277 patients with hematological malignancies using optical genome mapping (OGM). PTD was detected in 35 patients with acute myeloid leukemia (AML) (7%), 5 patients with myelodysplastic syndrome (MDS) (2.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
December 2024
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
This study aimed to retrospectively analyze the clinical characteristics and prognosis of patients with acute leukemia in the plateau. The clinical information of patients diagnosed with acute leukemia from February 2010 to April 2023 at the People's Hospital of Tibet Autonomous Region was reviewed and collected, including blood cell count, morphology, immunophenotype, cytogenetics, and molecular data. Survival analysis was conducted to analyze the outcome of patients with acute leukemia.
View Article and Find Full Text PDFClin Chem
January 2025
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Background: Genetic testing has traditionally been divided into molecular genetics and cytogenetics, originally driven by the use of different assays and their associated limitations. Cytogenetic technologies such as karyotyping, fluorescent in situ hybridization or chromosomal microarrays are used to detect large "megabase level" copy number variants and other structural variants such as inversions or translocations. In contrast, molecular methodologies are heavily biased toward subgenic "small variants" such as single nucleotide variants, insertions/deletions, and targeted detection of intragenic, exon level deletions or duplications.
View Article and Find Full Text PDFBackground: Patients with secondary acute myeloid leukemia who previously received hypomethylating agents for prior myeloid neoplasms (HMA-sAML) face a dismal prognosis.
Methods: The authors analyze the characteristics, therapeutic approaches, and outcomes of patients with HMA-sAML from the Programa Español para el Tratamiento de Hemopatías Malignas (PETHEMA) registry.
Results: A total of 479 patients were included, mostly from prior myelodysplastic syndrome (84%).
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