Background: Chronic myeloid leukaemia (CML) is a clonal malignant disorder of a pluripotent hematopoetic stem cell characterized by the presence of Philadelphia (Ph) chromosome in more than 90% of patients. However, about 5-10% of CML patients show a variant Ph translocation, involving one or more chromosomes in addition to 9 and 22. The treatment and prognostic impact of such additional abnormalities is not known. Herein, we report a unique case of a three-way translocation variant in CML and responded to flumatinib.
Case Presentation: A 22-year-old Asian female who presented with leukocytosis was diagnosed with CML. Cytogenetic karyotyping analysis showed 46,XX,t(6;9;22)(p21.3;q34;q11.2). She was treated with flumatinib, and MR5.0 (BCR-ABL1 IS≤0.001%, international scale) was achieved after three months of continuous treatment.
Conclusion: This was the 5th case of t(6;9;22), in particular, a new variant Ph translocation, and the first successful case treated with flumatinib in the world.
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http://dx.doi.org/10.2147/OTT.S377342 | DOI Listing |
Mol Cancer Res
January 2025
Fox Chase Cancer Center, Philadelphia, PA, United States.
Breast cancers of the IntClust-2 type, characterized by amplification of a small portion of chromosome 11, have a median survival of only five years. Several cancer-relevant genes occupy this portion of chromosome 11, and it is thought that overexpression of a combination of driver genes in this region is responsible for the poor outcome of women in this group. In this study we used a gene editing method to knock out, one by one, each of 198 genes that are located within the amplified region of chromosome 11 and determined how much each of these genes contributed to the survival of breast cancer cells.
View Article and Find Full Text PDFJ Dev Behav Pediatr
January 2025
eXtraordinarY Kids Clinic and Research Program, Children's Hospital Colorado, Aurora, CO.
Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.
Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.
Target Oncol
January 2025
Division of Hematology and SCT, Georgia Cancer Centre, Augusta, GA, USA.
Bosutinib is a second-generation tyrosine kinase inhibitor (TKI) approved for use in patients with newly diagnosed Philadelphia chromosome (Ph)-positive chronic phase (CP) chronic myeloid leukemia (CML), as well as Ph-positive CP, accelerated phase, or blast phase (with chemotherapy) CML resistant or intolerant to prior therapy. Clinical trials have shown bosutinib is effective as first-line therapy for patients with CML as well as in later lines of therapy after prior TKI failure. Bosutinib has an established safety profile; however, as with all TKIs approved for the treatment of CML, there are adverse events (AEs) that require management.
View Article and Find Full Text PDFJ Med Virol
January 2025
The Wistar Institute, Philadelphia, Pennsylvania, USA.
Epstein-Barr virus (EBV) is a ubiquitous human ɣ-herpesvirus implicated in various malignancies, including Burkitt's lymphoma and gastric carcinomas. In most EBV-associated cancers, the viral genome is maintained as an extrachromosomal episome by the EBV nuclear antigen-1 (EBNA1). EBNA1 is considered to be a highly stable protein that interacts with the ubiquitin-specific protease 7 (USP7).
View Article and Find Full Text PDFInt J Hematol
January 2025
Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Post-transplant tyrosine kinase inhibitors (TKIs) show promise in preventing relapse after allogeneic hematopoietic cell transplantation (allo-HCT) for Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL). However, their real-world use and efficacy remain unclear. A comprehensive study across seven centers included Ph+ALL patients who underwent allo-HCT between 2002 and 2022.
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