Pich A, Riera L, Sismondi F, Godio L, Davico Bonino L, Marmont F, Francia di Celle P
Department of Biomedical Sciences and Human Oncology, Section of Pathology, University of Turin, Turin, Italy.
J Clin Pathol. 2009 Sep;62(9):798-801. doi: 10.1136/jcp.2009.065904.
Chronic myelomonocytic leukaemia (CMML) is a haematopoietic malignancy with heterogeneous clinical and morphological features. It is classified in the World Health Organization myeloproliferative-myelodysplastic overlap category. JAK2(V617F) mutation can be found in a large percentage of patients with myeloproliferative neoplasms.
To investigate the association between JAK2(V617F) mutation and clinical, haematological and bone marrow histological features in CMML and to verify whether the mutation is associated with the myeloproliferative type of the disease.
78 consecutive patients with newly diagnosed CMML from 2004 to 2008 were included in the study. JAK2(V617F) mutation was assessed using direct sequencing of exon 14 or by allele-specific PCR from total peripheral blood or bone marrow samples.
JAK2(V617F) mutation was identified in eight cases (10.2%). All patients with the mutation presented with splenomegaly and had a significantly higher haemoglobin level and neutrophil count than patients without the mutation. All bone marrow biopsies of JAK2(V617F)-mutated CMML showed increased erythropoiesis, a marked myeloid and megakaryocytic hyperplasia with occasionally clustered megakaryocytes, and a mild or moderate (grade 1 or 2) fibrosis; six cases showed an increased number of dilated sinusoids and reactive lymphoid nodules.
The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML. Therefore, JAK2 mutation analysis together with bone marrow morphology could help in a more appropriate classification of the disease.
慢性粒单核细胞白血病（CMML）是一种具有异质性临床和形态学特征的造血系统恶性肿瘤。它被归类于世界卫生组织的骨髓增殖性-骨髓发育异常重叠类别。JAK2（V617F）突变在很大比例的骨髓增殖性肿瘤患者中可以发现。
研究JAK2（V617F）突变与CMML患者的临床、血液学及骨髓组织学特征之间的关联，并验证该突变是否与疾病的骨髓增殖类型相关。
纳入2004年至2008年连续诊断的78例新诊断CMML患者。使用外显子14直接测序或从全外周血或骨髓样本进行等位基因特异性PCR来评估JAK2（V617F）突变。
8例（10.2%）患者检测到JAK2（V617F）突变。所有突变患者均有脾肿大，且血红蛋白水平和中性粒细胞计数显著高于未突变患者。所有JAK2（V617F）突变的CMML患者骨髓活检均显示红系造血增加、明显的髓系和巨核细胞增生，巨核细胞偶尔聚集，以及轻度或中度（1级或2级）纤维化；6例显示扩张的血窦数量增加和反应性淋巴结节。
结果表明JAK2（V617F）突变与CMML骨髓增殖型的临床和形态学特征相关。因此，JAK2突变分析结合骨髓形态学有助于对该疾病进行更恰当的分类。
