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fusion genes in acute leukemias: genetic characterization of rare cases.
Front Oncol
March 2024
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Introduction: Alterations of the gene (9q34) are recurrent in acute leukemias. Rearrangements of chromosomal band 9q34 targeting this locus can be karyotypically distinct, for example t(6;9)(p22;q34)/, or cryptic, in which case no visible change of 9q34 is seen by chromosome banding.
Methods: We examined 9 cases of acute leukemia with rearrangement by array Comparative Genomic Hybridization (aCGH), reverse-transcription polymerase chain reaction (RT-PCR), and cycle sequencing/Sanger sequencing to detect which fusion genes had been generated.
Rearrangements in Leukemia Patients: A Case Series From a Single Institution.
Ann Lab Med
July 2024
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Background: The three best-known rearrangements found in leukemia (, and ) are associated with treatment resistance and poor prognosis. Mouse experiments have shown that rearrangements alone are insufficient for leukemogenesis; therefore, the identification of concurrent mutations is important for accurate assessment and tailored patient management. Here, we characterized the demographic characteristics and concurrent mutations in patients harboring rearrangements.
View Article and Find Full Text PDFUnusual Presentation of -Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle.
Int J Mol Sci
September 2023
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Samora Maschela Str., 1, 117998 Moscow, Russia.
Simultaneous multilineage hematologic malignancies are uncommon and associated with poorer prognosis than single-lineage leukemia or lymphoma. Here, we describe a concomitant malignant neoplasm in a 4-year-old boy. The child presented with massive lymphoproliferative syndrome, nasal breathing difficulties, and snoring.
View Article and Find Full Text PDFPhase-separated nuclear bodies of nucleoporin fusions promote condensation of MLL1/CRM1 and rearrangement of 3D genome structure.
Cell Rep
August 2023
National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), 7-6-8 Saito-Asagi, Ibaraki, Osaka 567-0085, Japan.
NUP98 and NUP214 form chimeric fusion proteins that assemble into phase-separated nuclear bodies containing CRM1, a nuclear export receptor. However, these nuclear bodies' function in controlling gene expression remains elusive. Here, we demonstrate that the nuclear bodies of NUP98::HOXA9 and SET::NUP214 promote the condensation of mixed lineage leukemia 1 (MLL1), a histone methyltransferase essential for the maintenance of HOX gene expression.
View Article and Find Full Text PDFBackground: The SET-NUP214 fusion formed by cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13) is a rare gene rearrangement.
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