Babarović Emina, Marijić Blažen, Vranić Luka, Ban Josipa, Valković Toni, Hadžisejdić Ita
Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.
Laboratory for Molecular Pathology, Clinical Department of Pathology and Cytology, Clinical Hospital Center Rijeka, 51000 Rijeka, Croatia.
Diagnostics (Basel). 2023 Jun 16;13(12):2086. doi: 10.3390/diagnostics13122086.
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.
低水平V617F突变的病例越来越多地被检测到；然而，低等位基因负担的临床解读可能具有挑战性。本研究的目的是分析和比较低水平V617F等位基因负担（≤15%）和高V617F突变负担患者（>15%）的骨髓形态和外周血检查结果。总共对122例伴有骨髓活检和外周血检查结果的V617F阳性病例进行了重新评估（62例低水平和60例高水平V617F阳性）。在低负担组中，与无异常的巨核细胞相比，外观正常的巨核细胞更常见（P = 0.0005），其数量更常未增加（P = 0.009），且它们不形成簇（P = 0.001）。当比较V617F <3%和≥3%突变负担时，我们发现血小板数量（P = 0.0003）和血细胞比容水平（P = 0.032）存在统计学显著差异。在高负担组中，巨核细胞更常出现异常（P = 0.054），更常形成簇（P = 0.053），且细胞核存在成熟缺陷（P≤0.0001）。总之，V617F突变负担通过骨髓形态变化得以体现，对每例V617F低阳性患者进行仔细随访是必要的。
