Heibl Sonja, Gisslinger Bettina, Jäger Eva, Barna Agnes, Gurbisz Michael, Stegemann Maike, Bettelheim Peter, Machherndl-Spandl Sigrid, Pfeilstöcker Michael, Nösslinger Thomas, Uyanik Gökhan, Hoermann Gregor, Stauder Reinhard, Thaler Josef, Kusec Rajko, Valent Peter, Gisslinger Heinz, Geissler Klaus
Department of Internal Medicine IV, Hospital Wels-Grieskirchen, 4600 Wels, Austria.
Division of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, 1090 Vienna, Austria.
Cancers (Basel). 2020 Jul 14;12(7):1891. doi: 10.3390/cancers12071891.
Patients with a myeloproliferative neoplasm (MPN) sometimes show a chronic myelomonocytic leukemia (CMML)-like phenotype but, according to the 2016 WHO classification, a documented history of an MPN excludes the diagnosis of CMML. Forty-one patients with an MPN (35 polycythemia vera (PV), 5 primary myelofibrosis, 1 essential thrombocythemia) and a CMML-like phenotype (MPN/CMML) were comprehensively characterized regarding clinical, hematologic, biologic and molecular features. The white blood cell counts in MPN/CMML patients were not different from CMML patients and PV patients. The hemoglobin values and platelet counts of these patients were higher than in CMML but lower than in PV, respectively. MPN/CMML patients showed myelomonocytic skewing, a typical in vitro feature of CMML but not of PV. The mutational landscape of MPN/CMML was not different from -mutated CMML. In two MPN/CMML patients, development of a CMML-like phenotype was associated with a decrease in the V617F allelic burden. Finally, the prognosis of MPN/CMML (median overall survival (OS) 27 months) was more similar to CMML (-mutated, 28 months; -nonmutated 29 months) than to PV (186 months). In conclusion, we show that patients with MPN and a CMML-like phenotype share more characteristics with CMML than with PV, which may be relevant for their classification and clinical management.
骨髓增殖性肿瘤（MPN）患者有时会表现出慢性粒单核细胞白血病（CMML）样表型，但根据2016年世界卫生组织（WHO）分类，有MPN记录病史可排除CMML诊断。对41例患有MPN（35例真性红细胞增多症（PV）、5例原发性骨髓纤维化、1例原发性血小板增多症）且具有CMML样表型（MPN/CMML）的患者的临床、血液学、生物学和分子特征进行了全面表征。MPN/CMML患者的白细胞计数与CMML患者和PV患者无差异。这些患者的血红蛋白值和血小板计数分别高于CMML患者但低于PV患者。MPN/CMML患者表现出粒单核细胞偏斜，这是CMML而非PV的典型体外特征。MPN/CMML的突变图谱与突变型CMML无差异。在2例MPN/CMML患者中，CMML样表型的出现与V617F等位基因负担的降低有关。最后，MPN/CMML的预后（中位总生存期（OS）27个月）与CMML（突变型，28个月；非突变型，29个月）比与PV（186个月）更相似。总之，我们表明，患有MPN且具有CMML样表型的患者与CMML的共同特征比与PV更多，这可能与其分类和临床管理相关。
