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| http://dx.doi.org/10.1007/s12288-019-01154-1 | DOI Listing |
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Detection of Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.
Cancers (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 PDFAcute myeloid leukemia (AML) with fusion is rare with largely unknown clinicopathological features and genomic characterization. We present one such case of AML transformed from V617F mutated primary myelofibrosis and review the literature on this topic. The immunophenotype and the landscape of cooperative gene alterations in AML with resemble those of AML with , including expression of CD19, cooperative gene alterations in signaling pathway (), epigenetic/chromatin and cell cycle regulation (, , and ), and additional chromosomal abnormalities (trisomies 8 and 15).
View Article and Find Full Text PDFThe prevalence of solid tumors and hematologic malignancies among patients with Down syndrome: A systematic review and meta-analysis.
Crit Rev Oncol Hematol
January 2025
Federal University of Pará, 01 Augusto Corrêa St., Belém 66075-110, Brazil.
Background: Patients with Down syndrome (DS) have a unique genetic and clinical profile that may increase the risk of cancer.
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A Favourable Outcome in a Congenital Leukaemia Patient With Unique Cytogenetic Abnormalities.
Cureus
September 2024
Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia Health Campus, Kubang Kerian, MYS.
Congenital leukaemia (CL) is an exceptionally uncommon hematologic malignancy originating intrauterine and is typically associated with an unfavourable prognosis. The present case is a seven-day-old Malay baby girl who presented with mild fever and hepatosplenomegaly. She was initially treated as neonatal sepsis however subsequent investigations with bone marrow, trephine biopsy and immunophenotyping were consistent with B acute lymphoblastic leukaemia.
View Article and Find Full Text PDFCohesin Gene Promoter Methylation in Patients with Acute Myeloid Leukemia.
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October 2024
Biomedical Research Foundation Academy of Athens, 11527 Athens, Greece.
Background: Aberrant gene promoter methylation is one of the hallmarks of Acute Myeloid Leukemia (AML). is an important gene, implicated in sister chromatids cohesion, DNA repair, the regulation of gene transcription, apoptosis and hematopoiesis.
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