Cases with low level V617F mutations are increasingly detected; however, the clinical interpretation of the low allele burden may be challenging. The aim of this study is to analyze and compare the bone marrow morphology and peripheral blood findings in the low level V617F allele burden (≤15% of ) and high V617F mutation burden patients (>15% ). In total, 122 V617F positive cases with concomitant bone marrow biopsies and peripheral blood findings were re-evaluated (62 low and 60 high level V617F positive). Within the low burden group, normal looking megakaryocytes ( = 0.0005) were more frequently found, compared with those with no atypia ( = 0.0003), their number was more frequently not increased ( = 0.009), and they did not form clusters ( = 0.001). We found statistically significant difference in the number of platelet ( = 0.0003) and hematocrit levels ( = 0.032) when comparing the V617F <3% and ≥3% mutation burden. In the high-level burden, the megakaryocytes were more frequently atypical ( = 0.054), and more frequently formed clusters ( = 0.053) with nuclei with maturation defects ( ≤ 0.0001). In conclusion, the V617F mutation burden is reflected by morphological changes in the bone marrow and careful follow up of each and every patient with a low V617F positivity is mandatory.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296850 | PMC |
http://dx.doi.org/10.3390/diagnostics13122086 | DOI Listing |
Hematology
December 2024
Department of Haematology and Bone Marrow Transplant, National Center for Cancer Care and Research (NCCCR), Hamad Medical Corporation, Doha, Qatar.
Background: Janus kinase II (JAK 2) mutation plays a critical part in the pathophysiology of myeloid pathologies and has been presented to be tangled in thrombotic obstacles of these sicknesses. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia.
Methods: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia.
Radiol Case Rep
February 2025
Department of Hematology and Oncology, The Brooklyn Hospital Center, New York, NY, USA.
Polycythemia vera (PV) is a chronic myeloproliferative disorder characterized by increased red blood cell mass, leading to a heightened risk for thrombosis and hemorrhage. While thrombotic complications such as stroke, deep vein thrombosis, and pulmonary embolism are commonly associated with PV, coronary artery syndromes, as the initial presentation, are rare. Here, we present the case of a 73-year-old male who presented with severe chest pain and was diagnosed with non-ST-elevation myocardial infarction (NSTEMI).
View Article and Find Full Text PDFmedRxiv
September 2024
Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!