A Comparison of Bone Marrow Morphology and Peripheral Blood Findings in Low and High Level IJAK2/I V617F Allele Burden

Cases with low level JAK2 V617F mutations are increasingly detected; however, the clinical interpretation of the low allele JAK2 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 JAK2 V617F allele burd...

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Bibliographic Details
Published in:Diagnostics (Basel) 2023-06, Vol.13 (12)
Main Authors: Babarović, Emina, Marijić, Blažen, Vranić, Luka, Ban, Josipa, Valković, Toni, Hadžisejdić, Ita
Format: Article
Language:English
Subjects:
Allelomorphism
Blood
Bone marrow
Comparative analysis
Genetic aspects
Health aspects
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Summary:Cases with low level JAK2 V617F mutations are increasingly detected; however, the clinical interpretation of the low allele JAK2 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 JAK2 V617F allele burden (≤15% of JAK2) and high JAK2 V617F mutation burden patients (>15% JAK2). In total, 122 JAK2 V617F positive cases with concomitant bone marrow biopsies and peripheral blood findings were re-evaluated (62 low and 60 high level JAK2 V617F positive). Within the low burden group, normal looking megakaryocytes (p = 0.0005) were more frequently found, compared with those with no atypia (p = 0.0003), their number was more frequently not increased (p = 0.009), and they did not form clusters (p = 0.001). We found statistically significant difference in the number of platelet (p = 0.0003) and hematocrit levels (p = 0.032) when comparing the JAK2 V617F
ISSN:2075-4418
2075-4418
DOI:10.3390/diagnostics13122086