Pich Achille, Riera Ludovica, Francia di Celle Paola, Beggiato Eloise, Benevolo Giulia, Godio Laura
Section of Pathology, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy,
Section of Pathology, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy.
Acta Haematol. 2018;140(4):234-239. doi: 10.1159/000493970. Epub 2018 Nov 7.
Mutations in the JAK2, CALR, and MPL genes have been shown to have prognostic value in essential thrombocythaemia (ET), but no clear association with morphological changes has been reported so far. We investigated the possible correlation between gene mutations and histopathological features in bone marrow (BM) biopsies of patients with ET.
Marrow cellularity, fibrosis, and the number of total and dysmorphic megakaryocytes and clusters of megakaryocytes were compared to gene mutations in 90 cases of ET at diagnosis.
The JAK2V617F mutation was found in 58.9%, CALR in 28.9%, and MPL in 4.4% of the cases, and 7.8% were triple-negative. JAK2V617F-mutated ET showed a high BM cellularity, the lowest number of clusters of megakaryocytes and the highest number of dysmorphic megakaryocytes; CALR-mutated ET showed a reduced BM cellularity, many clusters of large megakaryocytes, and very few dysmorphic megakaryocytes; MPL-mutated ET showed the lowest BM cellularity, the highest number of clustered and large megakaryocytes, and the lowest number of dysmorphic megakaryocytes. Triple-negative ET cases had the highest BM cellularity.
Distinct morphological patterns were associated with gene mutations in ET, supporting the classification of ET into different subtypes.
已证实JAK2、CALR和MPL基因的突变在原发性血小板增多症（ET）中具有预后价值，但迄今为止尚未报道其与形态学改变有明确关联。我们研究了ET患者骨髓活检中基因突变与组织病理学特征之间的可能相关性。
对90例ET诊断病例的骨髓细胞密度、纤维化程度、总巨核细胞及异形巨核细胞数量和巨核细胞簇进行了与基因突变的比较。
JAK2V617F突变在58.9%的病例中被发现，CALR突变在28.9%的病例中被发现，MPL突变在4.4%的病例中被发现，7.8%为三阴性。JAK2V617F突变的ET表现为高骨髓细胞密度、最低的巨核细胞簇数量和最高的异形巨核细胞数量；CALR突变的ET表现为骨髓细胞密度降低、许多大巨核细胞簇和极少的异形巨核细胞；MPL突变的ET表现为最低的骨髓细胞密度、最高的聚集和大巨核细胞数量以及最低的异形巨核细胞数量。三阴性ET病例具有最高的骨髓细胞密度。
ET中不同的形态学模式与基因突变相关，支持将ET分为不同亚型。
