X-linked clonal analysis (XLCA) either using Glucose-6-phosphate dehydrogenase (G-6-P-D) polymorphisms or restriction fragment length polymorphisms (RFLP) and methylation analysis has provided considerable understanding of haematologic malignancy. Acute Promyelocytic Leukemia (APL) is characterized by a unique cytogenetic translocation t(15;17), frequent achievement of remission without a preceding phase of marrow hypocellularity after induction chemotherapy and a high rate of clinical response to all-trans retinoic acid (ATRA). In limited studies XLCA has provided insight into the pathogenesis and mechanism of drug action in this disease.
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[VEXAS-like auto inflammatory syndrome: 2 cases].
Rev Med Interne
December 2024
Service de médecine interne, CHI Poissy-St Germain, 10, rue du Champs Gaillard, 78300 Poissy, France.
Introduction: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), recently described, due to a somatic mutation of the UBA1 gene and often associated with hemopathy, is characterized by systemic symptoms close to those described in Still's disease or relapsing polychondritis. There are also patients with hemopathy, presenting inflammatory symptoms reminiscent of those of VEXAS syndrome but without mutation of the UBA1 gene.
Case/discussion: Two male patients consulted for general signs, dermatological symptoms, arthralgia, chondritis and venous thrombosis, like patients in the French cohort suffering from VEXAS syndrome.
Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.
Br J Haematol
January 2025
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy.
View Article and Find Full Text PDFdysfunction in VEXAS and cancer.
Oncotarget
September 2024
MLL Munich Leukemia Laboratory, Munich, Germany.
, an X-linked gene, encodes one of the only two ubiquitin E1 enzymes, playing a pivotal role in initiating one of the most essential post-translational modifications. In late 2020, partial loss-of-function mutations in within hematopoietic stem and progenitor cells were found to be responsible for VEXAS Syndrome, a previously unidentified hematoinflammatory disorder predominantly affecting older males. The condition is characterized by severe inflammation, cytopenias, and an association to hematologic malignancies.
View Article and Find Full Text PDFThe survivin/XIAP suppressant YM155 impairs clonal growth and induces apoptosis in JAK2 cells.
Hematol Transfus Cell Ther
December 2024
Department of Pharmacology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil. Electronic address:
The central role of the control of apoptosis in the pathophysiology of Philadelphia chromosome-negative myeloproliferative neoplasms has recently been reinforced in genetic and pharmacological studies. The inhibitor of apoptosis protein family has eight members and plays an important role in apoptosis, with the most studied being survivin (BIRC5) and X-linked inhibitor of apoptosis (XIAP). YM155 is a small molecule with antineoplastic potential that has been described as a suppressant of survivin and XIAP.
View Article and Find Full Text PDFArticle Synopsis
- Chronic myeloid leukemia (CML) is linked to the BCR::ABL1 fusion gene and can be influenced by additional chromosomal abnormalities (ACAs), as seen in a case study with a novel four-way Ph translocation.
- A 42-year-old man with CML experienced fluctuating responses to treatment, showing initial success with imatinib and nilotinib, but later resistance marked by increased BCR::ABL1 levels and new chromosomal changes.
- The case underscores the complexity of ACAs in CML management and highlights the need for deeper research into how these genetic variations affect treatment outcomes and patient prognosis.
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