骨髓增生异常综合征(MDS)是指一组具有融合转录物作为疾病进展的克隆造血疾病。断点簇区/abelson(BCR::ABL)融合主要发生在从MDS到更高阶段和急性白血病转化的进展期。此外,关于MDS的诊断报道极为罕见。这里,报道了第一例denovphelphelphelphia(Ph)阳性MDS转化为慢性粒细胞白血病(CML),并迅速发展为急性粒细胞白血病(AML)。荧光原位杂交(FISH)分析显示非典型BCR::ABL阳性信号(2R2G1Y),在MDS的诊断中占3%,在CML的信息中增加到21.4%。多重逆转录酶聚合酶链反应(RT-PCR)的结果表明e19a2(p230BCR::ABL)重排。在从MDS转化为CML时,每天用400mg伊马替尼治疗会导致血液学反应。然而,患者停止服用伊马替尼,原因是治疗5周后血细胞减少恶化,再过2个月又快速进展为AML.阿扎胞苷(AZA)和维奈托克(VEN)的治疗实现了部分缓解(PR)。不幸的是,患者在PR后6个月复发,此后不久死亡.此外,本研究还对另外16例报告呈Ph阳性的MDS的成人病例进行了回顾,以了解临床特征和结局.
Myelodysplastic syndromes (MDS) refer to a set of clonal hematopoietic disorders with fusion transcript as disease progression. Breakpoint cluster region/abelson (BCR::ABL) fusion mostly occurs during the progressive phase from MDS to higher stages and acute leukemia transformation. Besides, it is extremely rare reported on the diagnosis of MDS. Here, the first case of transformation of de nove philadelphia (Ph)-positive MDS to chronic myeloid leukemia (CML) with rapid progression to acute myeloid leukemia (AML) was reported. Fluorescence in situ hybridization (FISH) analysis revealed an atypical BCR::ABL positive signal (2R2G1Y) that accounted for 3% at the diagnosis of MDS and increased to 21.4% at information to CML. The result of multiplex reverse transcriptase polymerase chain reaction (RT-PCR) indicated a rearrangement of e19a2 (p230 BCR::ABL). The treatment with 400 mg of imatinib daily at the transformation from MDS to CML led to a hematological response. However, the patient stopped taking imatinib due to the worsening of cytopenias after five weeks of therapy and rapid progression to AML in another two months. The treatment with azacitidine (AZA) and venetoclax (VEN) achieved partial remission (PR). Unfortunately, the patient relapsed six months after PR and died shortly thereafter. In addition, another 16 cases of adult cases that reported MDS with de nove Ph-positive were also reviewed to learn about clinical features and outcomes.