Kreipe H H
Institut für Pathologie, Medizinische Hochschule Hannover, Carl Neuberg Str. 1, 30625, Hannover, Deutschland.
Pathologe. 2011 Nov;32 Suppl 2:271-6. doi: 10.1007/s00292-011-1504-5.
Myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) represent neoplastic proliferations of hematopoietic stem cells, which may progress to loss of differentiation and acute myeloid leukemia (AML). Transitions between MDSs and MPNs as well as combinations between both disorders occur and MPNs may acquire dysplastic features combined with cytopenia. Myelodysplastic/myeloproliferative neoplasms show dysplastic and myeloproliferative properties and have in common genetic aberrations at the stem cell level (TET2, ASXL 1, CBL, IDH 1, IDH 2, EZH2, p53, Runx1), which may be found in one cell or may affect different hematopoietic stem cells, expanding in parallel. Progress to AML follows a linear clonal evolution only in a subset of cases. Alternatively AML derives from secondary clones, devoid of any marker mutation or originates from a common aberrant progenitor cell which shares other but not the JAK2 ( V617F ) mutation.
骨髓增生异常综合征(MDS)和骨髓增殖性肿瘤(MPN)是造血干细胞的肿瘤性增殖,可能会发展为分化丧失和急性髓系白血病(AML)。MDS和MPN之间会发生转变,以及两种疾病的合并情况,并且MPN可能会出现发育异常特征并伴有血细胞减少。骨髓增生异常/骨髓增殖性肿瘤具有发育异常和骨髓增殖特性,在干细胞水平存在共同的基因畸变(TET2、ASXL 1、CBL、IDH 1、IDH 2、EZH2、p53、Runx1),这些畸变可能存在于一个细胞中,也可能影响不同的造血干细胞,并平行扩展。只有一部分病例会沿着线性克隆进化发展为AML。另外,AML源自次级克隆,缺乏任何标记突变,或者源自一个共同的异常祖细胞,该祖细胞具有其他但不是JAK2(V617F)突变。