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Chromosomes are the vehicles of genes, which are the functional units of a cell's nucleus. In humans, there are more than 20,000 genes that are distributed among 46 chromosomes in somatic cells. The study of chromosome structure and function is known as cytogenetics which is historically a field of hybrid science encompassing cytology and genetics. The field of cytogenetics has undergone rapid developments over the last several decades from classical Giemsa staining of chromosomes to 3-dimensional spatial organization of chromosomes with a high resolution mapping of gene structure at the nucleotide level. Improved molecular cytogenetic techniques have opened up exciting possibilities for understanding the chromosomal/molecular basis of various human diseases including cancer and tissue degeneration. This review summaries the history and evolution of various cytogenetic techniques and their current and future applications in diverse areas of basic research and medical diagnostics.
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http://dx.doi.org/10.1016/j.mrgentox.2018.08.008 | DOI Listing |
Hum Pathol
September 2025
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
We report 35 patients who had a leukemic phase of diffuse large B-cell lymphoma/high-grade B-cell lymphoma with MYC and BCL2 rearrangements, also known as double-hit lymphoma (DHL). There were 23 men and 12 women with a median age of 57 years (range, 29-82). Eight patients had an established DHL diagnosis and later developed a leukemic phase of disease and 27 presented with DHL and a leukemic phase of disease at initial diagnosis.
View Article and Find Full Text PDFBackground: Turner syndrome (TS), also known as congenital ovarian hypoplasia, is one of the most common sex chromosome diseases in women. It is caused by the complete or partial deletion or structural change of one X chromosome in all or part of somatic cells. A rare case of karyotype Turner syndrome is reported.
View Article and Find Full Text PDFCytometry B Clin Cytom
September 2025
Department of Hematopathology, 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, Ch
Two types of plasmacytoid dendritic cell (pDC) proliferation disease are acknowledged so far by the 5th edition of the World Health Organization Classification of Haematolymphoid Tumors: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) and mature pDC proliferation associated with myeloid neoplasms (MPDCP) in which pDC is part of the malignant clone. We aim to investigate pDC proliferation associated with non-myeloid acute leukemia (AL). A retrospective analysis of all cases admitted in our center with a diagnosis of non-myeloid AL from September 2020 to April 2023 was performed to select cases with pDCs greater than 2% of bone marrow by flow cytometry (FCM).
View Article and Find Full Text PDFBlood Neoplasia
November 2025
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX.
Chronic myelomonocytic leukemia (CMML) is an aggressive hematologic neoplasm characterized by an expansion of CD123 monocytes and plasmacytoid dendritic cells (pDCs). pDC bone marrow clusters in CMML have been associated with higher rates of acute myeloid leukemia transformation. We evaluated tagraxofusp, a CD123-targeted therapy, in a phase 1/2 trial for patients with CMML.
View Article and Find Full Text PDFACS Omega
September 2025
Genetics and Cellular Biology Laboratory, Center for Biodiversity Studies, Federal University of Pará, Belém 66075-110, Pará, Brazil.
Histone genes contain sequences responsible for coding five types of proteins (H1, H2A, H2B, H3, and H4) that are of great importance for chromatin organization. Their transcriptional regulation through DNA methylation has been little studied. Testudines are ancient reptiles with high cytogenetic diversity (2 = 26-68), with a large number of histone gene loci in their karyotype.
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