MLL-SEPTIN gene fusions in hematological malignancies.

Cerveira N; Bizarro S; Teixeira MR

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MLL-SEPTIN gene fusions in hematological malignancies.

机译：MLL-SEPTIN基因融合在血液系统恶性肿瘤中的作用。

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The mixed lineage leukemia (MLL) locus is involved in more than 60 different rearrangements with a remarkably diverse group of fusion partners in approximately 10% of human leukemias. MLL rearrangements include chromosomal translocations, gene internal duplications, chromosome 11q deletions or inversions and MLL gene insertions into other chromosomes, or vice versa. MLL fusion partners can be classified into four distinct categories: nuclear proteins, cytoplasmatic proteins, histone acetyltransferases and septins. Five different septin genes (SEPT2, SEPT5, SEPT6, SEPT9, and SEPT11) have been identified as MLL fusion partners, giving rise to chimeric fusion proteins in which the N terminus of MLL is fused, in frame, to almost the entire open reading frame of the septin partner gene. The rearranged alleles result from heterogeneous breaks in distinct introns of both MLL and its septin fusion partner, originating distinct gene fusion variants. MLL-SEPTIN rearrangements have been repeatedly identified in de novo and therapy related myeloid neoplasia in both children and adults, and some clinicopathogenetic associations are being uncovered. The fundamental roles of septins in cytokinesis, membrane remodeling and compartmentalization can provide some clues on how abnormalities in the septin cytoskeleton and MLL deregulation could be involved in the pathogenesis of hematological malignancies.

机译：混合谱系白血病（MLL）基因座参与了60多种不同的重排，在大约10％的人类白血病中融合伙伴的种类非常多样化。 MLL重排包括染色体易位，基因内部重复，染色体11q缺失或倒位以及MLL基因插入其他染色体，反之亦然。 MLL融合伴侣可以分为四个不同的类别：核蛋白，胞质蛋白，组蛋白乙酰转移酶和Septins。已鉴定出五个不同的septin基因（SEPT2，SEPT5，SEPT6，SEPT9和SEPT11）作为MLL融合伴侣，从而产生了嵌合融合蛋白，其中MLL的N末端符合读框地融合到几乎整个开放阅读框中间隔蛋白伴侣基因的表达。重排的等位基因是由MLL及其隔蛋白融合伴侣的不同内含子中的异质性断裂产生的，其起源于不同的基因融合变体。 MLL-SEPTIN重排已在儿童和成人中从头和治疗相关的髓样瘤形成中反复发现，并且发现了一些临床病理关联。 Septins在胞质分裂，膜重构和区室化中的基本作用可以提供一些线索，说明Septin细胞骨架异常和MLL失调如何与血液系统恶性肿瘤的发病机制有关。

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《Biological chemistry》 |2011年第9期|共12页
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Cerveira N; Bizarro S; Teixeira MR;
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1. MLL-SEPTIN gene fusions in hematological malignancies. [J] . Cerveira N, Bizarro S, Teixeira MR Biological chemistry . 2011,第8a9期

机译：MLL-SEPTIN基因融合在血液系统恶性肿瘤中的作用。
2. NCI First International Workshop on The Biology, Prevention and Treatment of Relapse after Allogeneic Hematopoietic Cell Transplantation: report from the committee on prevention of relapse following allogeneic cell transplantation for hematologic malignancies. [J] . Alyea EP, DeAngelo DJ, Moldrem J, Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation . 2010,第8期

机译：NCI首届国际同种异体造血细胞移植后复发的生物学，预防和治疗讲习班：同种异体细胞移植后防止复发的血液学恶性肿瘤委员会的报告。
3. Donor KIR Genes 2DL5A, 2DS1 and 3DS1 are associated with a reduced rate of leukemia relapse after HLA-identical sibling stem cell transplantation for acute myeloid leukemia but not other hematologic malignancies. [J] . Stringaris K, Adams S, Uribe M, Biology of blood and marrow transplantation: journal of the American Society for Blood and Marrow Transplantation . 2010,第9期

机译：供体KIR基因2DL5A，2DS1和3DS1与急性髓样白血病的HLA同胞干细胞移植后白血病复发率降低相关，但与其他血液学恶性肿瘤无关。
4. Fludarabine Phosphete and Melphalan - An Immunosuppressive Reduced Intensity Conditioning (RIC) Regimen for AUogeneic Stem Cell Transplantation in Patients with a Range of Hematological Malignancies [C] . G. Jackson, C. Richardson, G. Morgan, European Haematology Association . 2002

机译：Fludarabine phospete和Melphalan - 一种免疫抑制性降低的强度调理（RIC）治疗患者血液学恶性肿瘤患者的促孕酮干细胞移植方案
5. A systematic review of exposure to toxic metals as a risk factor for hematologic malignancies. [D] . Akosile, Mary. 2016

机译：对有毒金属暴露作为血液系统恶性肿瘤危险因素的系统评价。
6. The molecular genetics of hematologic malignancies. [O] . A Bagg 1995

机译：血液系统恶性肿瘤的分子遗传学。
7. Prognostic factors for mortality with fungal blood stream infections in patients with hematological and non-hematological malignancies. [O] . Salih, Z, Cavet, Jennifer, Somervaille, TC, 2013

机译：血液学和非血液系统恶性肿瘤患者真菌血流感染死亡率的预后因素。

MLL-SEPTIN gene fusions in hematological malignancies.

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