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首页> 外文期刊>British Journal of Haematology >De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics
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De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics

机译：具有独特分子特征的新生儿童期骨髓增生异常/骨髓增生性疾病

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Myelodysplastic/myeloproliferative uclassifiable (MDS/MPN-U) is a rare myeloid neoplasm characterized by myelodysplasia and myeloproliferation at the time of initial presentation, which is usually a diagnosis of exclusion. The molecular pathogenesis of MDS/MPN-U patients remains to be elucidated. Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2 V617F mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML). Germline mutation of TP53 was detected as a sole genetic lesion in one patient. JAK2 V617F and somatic mosaicism of KRAS and TET2 mutations co-existed in one patient. Otherwise, no alterations were detected in PTPN11, NRAS, CBL and ASXL1 genes. ETV6-PDGFRB fusion transcript was not detected in all patients. Four patients recieved haematopoietic stem cell transplantation (HSCT); three patients relapsed and one achieved complete remission after three donor lymphocyte infusions. Our findings suggest that the mutational spectrum observed in childhood MDS/MPN-U is quite different from that seen in juvenile myelomonocytic leukaemia and, to some extent, resemble chronic myelomonocytic leukaemia. Moreover, two patients had constitutional alterations of genes frequently found in AML. Further investigations are required to define the roles of these genetic alterations in the pathogenesis of childhood MDS/MPN-U.
机译：骨髓增生异常/骨髓增生性可分类（MDS / MPN-U）是一种罕见的骨髓瘤，其特征在于初次出现时的骨髓增生异常和骨髓增生，通常被诊断为排斥。 MDS / MPN-U患者的分子发病机制仍有待阐明。在五名被诊断患有MDS / MPN-U的患者中，三名患者携带RUNX1（AML1）突变。一例携带带有JAK2 V617F突变的RUNX1突变的体细胞嵌合体，另一种具有内部RUNX1和FLT3双重双重复制突变，并发展为急性髓细胞白血病（AML）。 TP53的种系突变被检测为一名患者的唯一遗传病灶。一名患者同时存在JAK2 V617F和KRAS和TET2突变的体细胞镶嵌。否则，在PTPN11，NRAS，CBL和ASXL1基因中未检测到任何改变。在所有患者中均未检测到ETV6-PDGFRB融合转录本。 4例患者接受了造血干细胞移植（HSCT）;三例患者复发，三例供体淋巴细胞输注后完全缓解。我们的发现表明，在儿童MDS / MPN-U中观察到的突变谱与在少年粒单核细胞白血病中观察到的突变谱有很大不同，并且在某种程度上类似于慢性粒单核细胞白血病。此外，两名患者具有AML中常见基因的体质改变。需要进一步的研究来确定这些基因改变在儿童MDS / MPN-U发病机理中的作用。

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