There are only a few cytogenetic analysis (CA) studies that directly compare the novel cultivation technique using immunostimulatory CpG-oligonucleotide DSP30/interleukin-2 (DSP30/IL2) with other culture methods. Therefore, parallel cultures of peripheral blood of 129 chronic lymphocytic leukemia (CLL) patients were set up in unstimulated cultures, in the presence of pokeweed medium (PWM), and with DSP30/IL2. Furthermore, CA results were compared with data obtained by FISH. Clonal aberrations were observed by CA in 6% of the cases in unstimulated cultures, in 27% of the cases with PWM, and in 40% of the cases with DSP30/IL2. Some clonal aberrations were detected by CA only with one culture method. Using 3 different culture methods, clonal aberrations were detected in 41% of the cases by CA and in 71% of the cases by FISH. Altogether, 78% of the cases exhibited clonal aberrations discovered by CA and FISH. Also, CA detected clonal aberrations not targeted by FISH in 7% of the cases, and FISH identified clonal aberrations not detected by CA in 36% of the cases. Our study demonstrates that the combined use of CA with different culture methods together with FISH increases our knowledge of the genetic complexity and heterogeneity in CLL pathogenesis.
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http://dx.doi.org/10.1159/000369543 | DOI Listing |
Malays J Pathol
December 2024
Universiti Sains Malaysia, School of Medical Sciences, Human Genome Centre, Health Campus, Kelantan, Malaysia.
Multiple myeloma (MM), a clonal B-cell neoplasia, is an incurable and heterogeneous disease where survival ranges from a few months to more than 10 years. The clinical heterogeneity of MM arises from multiple genomic events that result in tumour development and progression. Recurring genomic abnormalities including cytogenetic abnormalities, gene mutations and abnormal gene expression profiles in myeloma cells have a strong prognostic power.
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December 2024
Department of Hematology of First Affiliated Hospital, and Department of Public Health, Zhejiang University School of Medicine, Hangzhou, China.
Introduction: Leukemia is typically categorized into myeloid leukemia and lymphoblastic leukemia based on the origins of leukemic cells. Myeloid leukemia is a group of clonal malignancies characterized by the presence of increased immature myeloid cells in both the bone marrow and peripheral blood. Of note, the aberrant expression of specific proteins or the generation of fusion proteins due to chromosomal abnormalities are well established drivers in various forms of myeloid leukemia.
View Article and Find Full Text PDFExp Hematol
December 2024
Division of Hematology, Department of Medicine, University of Washington, Seattle, WA, 98195; Department of Genome Sciences, University of Washington, Seattle, WA, 98195; Institute of Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, 98195. Electronic address:
Myeloid malignancies are a spectrum of clonal disorders driven by genetic alterations that cooperatively confer aberrant self-renewal and differentiation of hematopoietic stem and progenitor cells (HSPCs). Induced pluripotent stem cells (iPSCs) can be differentiated into HSPCs and have been widely explored for modeling hematological disorders and cell therapies. More recently, iPSCs models have been applied to study the origins and pathophysiology of myeloid malignancies, motivated by the appreciation for the differences in human oncogene function and the need for genetically defined models that recapitulate leukemia development.
View Article and Find Full Text PDFMagy Onkol
December 2024
Laboratóriumi Medicina Intézet, Debreceni Egyetem, Általános Orvostudományi Kar, Klinikai Genetikai Tanszék, Debrecen, Hungary.
In malignant hematological diseases, clonal genetic alterations, such as chromosomal aberrations and gene mutations, are responsible for the uncontrolled division of abnormal hemopoietic cells. The detection of clonal variants has not only diagnostic, but also prognostic and therapeutic significance. They enable risk-based differentiated treatment of patients and the use of targeted (genotype-specific) therapies.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Hematology, The Second Affiliated Hospital of Xi'an JiaoTong University, Xi'an, Shaanxi, China.
The treatment of multiple myeloma (MM) has significantly advanced; however, the underlying genetic mechanisms remain elusive. Clonal events and genetic alterations are recognized as pivotal in the pathogenesis of MM. It is now understood that a multitude of gene mutations, including those affecting RAS, , , and 1q21 amplification, are prevalent in this disease.
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