淋巴细胞中白血病融合基因间距离显著小于实体瘤融合基因和随机对照,且共定位的比率更高,其中费城染色体BCR-ABL1融合基因排名第一,单细胞水平上共定位率高达34.9%。而KMT2A-ELL融合基因排在第二,共定位率达到了27.6%。 白血病融合基因伙伴在三维空间中邻近...
AML伴t(11;19)(q23;p13.1);MLL(KMT2A)::ELL和MECOM(EVII)阳性(重排),很少见,是预后差的类型,具有一定的临床特征、形态学特征和遗传学特征。赖氨酸甲基转移酶2A(lysine methyltransferase 2A,KMT2A)基因,以前称为混合系列白...
In our case, in addition to the KMT2A-ELL fusion, mutations associated with myeloid neoplasms, such as FLT3 and PTPN11, were also detected, indicating cooperative roles of these genetic alterations in the development of this MS case. PTPN11 is a negative regulator of the RAS/MAPK pathway. ...
KMT2A-ELL fusionMolecularMyeloid sarcomaOncoScanSNP microarrayMyeloid sarcoma (MS) is a rare neoplasm of immature myeloid precursors that form tumor mass outside the bone marrow. The diagnosis of de novo MS can be challenging, particularly in patients with no prior history of hematologic malignancies...
also known as MLL, are the most common genetic abnormalities of leukemia in infants.1 As a fusion partner, in total more than 90 genes have been identified.2 We identified in an infant patient with acute lymphoblastic leukemia (Supplementary Information) a novel fusion gene KMT2A-ACTN2 by RNA...
diffuse large Bヽell lymphomacytogeneticsMLLKMT2AtranslocationrearrangementTranslocations of the histone-lysine N -methyltransferase 2A ( KMT2A ) gene, formerly known as myeloid lymphoid leukemia/mixed-lineage leukemia gene, are commonly associated with high-risk de novo or therapy-associated B-cell and...
KMT2A(MLL)位于11q23,此区域为常见的染色体异常区域,包括易位插入及缺失; 在AML中单纯KMT2A重排提示预后中等。 急性淋巴细胞白血病(ALL) KMT2A基因异常见于ML及LL中,在儿童B-ALL中发生率高达85%,也可见于淋巴瘤;预后差,治疗失败风险高; 是预后最差的ALL的标志。