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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Genetic landscape of donor-derived hematological m ...
Genetic landscape of donor-derived hematological malignancies and donor-derived clonal abnormalities of uncertain significance after sex mismatched allogeneic stem cell transplantation
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Pdf Summary
This study examined the genetic landscape of donor-derived hematological malignancies and clonal abnormalities of uncertain significance (CAUS) after sex-mismatched allogeneic stem cell transplantation (HSCT). Researchers conducted a retrospective study using data from the Johns Hopkins Hospital database over a 15-year period. They reviewed clinical data, pathology findings, and genetic test results, including next-generation sequencing mutation panels, chromosome analysis, fluorescence in situ hybridization (FISH), and SNP microarray.<br /><br />Out of 916 patients who underwent sex-mismatched HSCT, nine patients (1%) developed donor-derived cytogenetic aberrations. These aberrations included cases with -7/7q-, 20q-, t(11;19)(q23;p13.1), gain of marker chromosomes, and gain of isochromosome i(9)(p10). None of these aberrations were present in recipient cells. While some cases had CAUS without overt hematological malignancy, others developed various types of donor-derived leukemia/lymphomas after HSCT.<br /><br />The study identified several acquired mutations in genes such as NRAS, RUNX1, TET2, ASXL1, DNMT3A, and TP53 in donor-derived hematological malignancies. Germline mutations in the donor cells before HSCT, known as CHIP mutations, were also observed. The study suggests that these pre-leukemic cells may be transferred from the donor to the recipient during HSCT.<br /><br />The genetic landscapes of donor and recipient cells were found to be different in this study, indicating the occurrence of secondary genetic events in the donor cells after transplantation in the recipient's marrow microenvironment. This defect in the marrow microenvironment may contribute to the formation and development of hematologic malignancies.<br /><br />Overall, this study provides insights into the genetic abnormalities that can occur in donor-derived cells after sex-mismatched allogeneic stem cell transplantation. Understanding these genetic landscapes can help to elucidate the mechanisms behind the development of donor-derived hematological malignancies and CAUS.
Asset Subtitle
Presenting Author - Melanie Klausner, MS, CG(ASCP); Co-Author - Laura Morsberger, ASCP; Co-Author - Patty Long, ASCP; Co-Author - Ying Zou;
Meta Tag
Cancer Cytogenetics
Chromosomal Abnormalities
Clinical Cytogenetics
Cytogenetics
NextGen Sequencing
Oncogenesis
Pathogenesis
Sequencing
Co-Author
Laura Morsberger, ASCP
Co-Author
Patty Long, ASCP
Co-Author
Ying Zou
Presenting Author
Melanie Klausner, MS, CG(ASCP)
Keywords
genetic landscape
donor-derived hematological malignancies
clonal abnormalities of uncertain significance
sex-mismatched allogeneic stem cell transplantation
retrospective study
Johns Hopkins Hospital database
next-generation sequencing mutation panels
chromosome analysis
fluorescence in situ hybridization
SNP microarray
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