Nm Hakim, W Tam, A Philipovskiy, V Tonk, A Orazi
Texas Tech University Health Sciences Center, El Paso, TX, USA.
Weill Cornell Medicine, New York, NY, USA.
Leuk Res Rep. 2021 May 18;15:100248. doi: 10.1016/j.lrr.2021.100248. eCollection 2021.
Although acute transformation to acute myeloid leukemia represents a well-established form of disease progression in myelodysplastic syndromes (MDS), the progressive development of proliferative features with a phenotypic shift to a myelodysplastic/myeloproliferative neoplasm such as chronic myelomonocytic leukemia developing from a prior MDS has also been observed. However, transition from a MDS to an atypical chronic myeloid leukemia negative (aCML) is exceptionally rare. Herewith we report one such case, describing its clinical, morphologic and molecular correlates. The observed molecular progression which paralleled the phenotypic shift, partially elucidates the pathogenetic mechanisms involved in this rare type of disease progression.
虽然向急性髓系白血病的急性转化是骨髓增生异常综合征（MDS）中一种公认的疾病进展形式，但也观察到了增殖特征的逐渐发展以及表型转变为骨髓增生异常/骨髓增殖性肿瘤，如先前的MDS发展为慢性粒单核细胞白血病。然而，从MDS转变为非典型慢性髓系白血病阴性（aCML）极为罕见。在此我们报告这样一例病例，并描述其临床、形态学和分子相关性。所观察到的与表型转变平行的分子进展，部分阐明了这种罕见疾病进展类型所涉及的发病机制。
