Publications by authors named "Stephen Langabeer"
Article Synopsis
- * Most HCL patients have the V600E mutation, making it a key target for treating those who don't respond to standard therapies, but some may have different mutations.
- * Diagnosing HCL patients without the V600E mutation requires careful evaluation for other genetic changes, which could reveal new insights into the disease and improve targeted treatment options.
Introduction: Myeloproliferative neoplasms (MPN) are a heterogeneous group of clonal hematopoietic stem cell neoplasms characterized by the driver mutations JAK2, CALR, and MPL. These mutations cause constitutive activation of JAK-STAT signaling, which is central to pathogenesis of MPNs. Next-generation sequencing has further expanded the molecular landscape allowing for improved diagnostics, prognostication, and targeted therapy.
View Article and Find Full Text PDFMonoclonal gammopathy and myeloproliferative neoplasm molecular diagnostics.
Hematol Transfus Cell Ther
August 2023
Dual Drivers in the Myeloproliferative Neoplasms: An Underestimation?
Technol Cancer Res Treat
June 2023
Acquired resistance to tyrosine kinase inhibitors (TKIs) remains a therapeutic challenge in the treatment of chronic myeloid leukemia (CML). The most studied reason for TKI resistance is the acquisition of mutations within the tyrosine kinase domain (KDM) and of which the majority of which occur at seven codons within this region. A case of CML is described in which presence of a rare D363G KDM resulted in a suboptimal response to frontline imatinib.
View Article and Find Full Text PDFPyoderma gangrenosum can be associated with haematological malignancies but rarely a myeloproliferative neoplasm. A review of requests for molecular detection of myeloproliferative neoplasm driver mutations in patients with pyoderma gangrenosum was performed and revealed that testing for these mutations is unwarranted in cases where there are no clinical, haematological or morphological features of a myeloproliferative neoplasm present.
View Article and Find Full Text PDFStrange Bedfellows: NPM1 Mutations in Acute Promyelocytic Leukemia.
Hematol Oncol Stem Cell Ther
January 2023
Excluding JAK2 V617F mutation analysis from the primary immune thrombocytopenia 'diagnosis of exclusion'.
Blood Coagul Fibrinolysis
December 2022
Article Synopsis
- Standardized monitoring of BCR::ABL1 mRNA levels is crucial for managing chronic myeloid leukemia (CML) patients, as established by the European Treatment and Outcome Study for CML (EUTOS) from 2016 to 2021.
- The study tested secondary, lyophilized BCR::ABL1 reference panels to help local laboratories validate their tests and convert results to the International Scale, leading to significant improvements in the validation of conversion factors (CFs).
- The findings showed that most participating laboratories could effectively monitor molecular response in samples, highlighting that secondary reference panels provide a reliable method for quality assurance in CML testing.