DEK/CAN融合基因在髓系白血病中的研究进展
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摘要
<正>急性髓系白血病(acute myeloid leukemia,AML)是髓系造血干/祖细胞的恶性疾病。AML常与特定的染色体易位及相关的异常融合蛋白(AAFPs)相关。t(6;9)阳性的AML由于其早期发病和预后不良,而被列为独立的临床实体。t(6;9)AML的标志是DEK/CAN融合蛋白的表达。由于这种染色体易位极为罕见,目前的认识来源于相对较小的一系列患者,所以对它的认知仍十分有限。
Acute myeloid leukemia(AML)is a malignant disease of myeloid hematopoietic stem/progenitor cells.AML is often associated with specific chromosomal translocations and associated abnormal fusion protein.t(6;9)-positive AML has been classified as an independent clinical entity due to its poor early onset and poor prognosis.The expression of DEK/CAN fusion protein is the marker of t(6;9)-AML.Because this chromosome translocation is extremely rare,the current understanding comes from a relatively small range of patients,so the knowledge of it is still very limited.
Acute myeloid leukemia(AML)is a malignant disease of myeloid hematopoietic stem/progenitor cells.AML is often associated with specific chromosomal translocations and associated abnormal fusion protein.t(6;9)-positive AML has been classified as an independent clinical entity due to its poor early onset and poor prognosis.The expression of DEK/CAN fusion protein is the marker of t(6;9)-AML.Because this chromosome translocation is extremely rare,the current understanding comes from a relatively small range of patients,so the knowledge of it is still very limited.
引文
[1]Oancea C,Rüster B,Henschler R,et al.The t(6;9)associated DEK/CAN fusion protein targets a population of long-term repopulating hematopoietic stem cells for leukemogenic transformation[J].Leukemia,2010,24:1910-1909.
[2]Ayatollahi H,Sadeghian MH,Naderi M,et al.Quantitative assessment of Wilms tumor 1expression by real-time quantitative polymerase chain reaction in patients with acute myeloblastic leukemia[J].J Res Med Sci,2017,22:54.
[3]Qin H,Malek S,Cowell JK,et al.Transformation of human CD34+hematopoietic progenitor cells with DEK-NUP214induces AML in an immunocompromised mouse model[J].Oncogene,2016,35:5686-5691.
[4]Zhou MH,Yang QM.NUP214fusion genes in acute leukemia(Review)[J].Oncol Lett,2014,8:959-962.
[5]Oancea C,Rüster B,Brill B,et al.STAT activation status differentiates leukemogenic from non-leukemogenic stem cells in AML and is suppressed by arsenic in t(6;9)-positive AML[J].Genes Cancer,2014,5:378-392.
[6]Sitwala KV,Adams K,Markovitz DM.YY1and NF-Ybinding sites regulate the transcriptional activity of the dek and dek-can promoter[J].Oncogene,2002,21:8862-8870.
[7]Ageberg M,Gullberg U,Lindmark A.The involvement of cellular proliferation status in the expression of the human proto-oncogene DEK[J].Haematologica,2006,91:268-269.
[8]Saito S,Cigdem S,Okuwaki M,et al.Leukemia-associated Nup214fusion proteins disturb the XPO1-mediated nuclear-cytoplasmic transport pathway and thereby the NF-κB signaling pathway[J].Mol Cell Biol,2016,36:1820-1835.
[9]Saha AK,Kappes F,Mundade A,et al.Intercellular trafficking of the nuclear oncoprotein DEK[J].Proc Natl Acad Sci U S A,2013,110:6847-6852.
[10]Sandén C,Ageberg M,Petersson J,et al.Forced expression of the DEK-NUP214fusion protein promotes proliferation dependent on upregulation of mTOR[J].BMC Cancer,2013,13:440.
[11]Garcon L,Libura M,Delabesse E,et al.DEK-CANmolecular monitoring of myeloid malignancies could aid therapeutic stratification[J].Leukemia,2005,19:1338-1344.
[12]Sandahl JD,Coenen EA,Forestier E,et al.(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia:an international study of 62 patients[J].Haematologica,2014,99:865-872.
[13]刘田田,杨文娟,潘耀柱,等.DEK/CAN基因阳性急性髓系白血病1例[J].中国肿瘤临床,2016,43(24):1114-1114.
[14]李丽宁,于书春,白晓.伴dek/can融合基因阳性急性髓系白血病1例[J].检验医学与临床,2013,10(8):8-8.
[15]杨光,赵瑾,石磊,等.恶性血液病常见易位相关融合基因的检测[J].中国现代医生,2009,47(29):3-4.
[16]Panagopoulos I,Gorunova L,Torkildsen S,et al.DEK-NUP214-fusion identified by RNA-sequencing of an acute myeloid leukemia with t(9;12)(q34;q15)[J].Cancer Genomics Proteomics,2017,14:437-443.
[2]Ayatollahi H,Sadeghian MH,Naderi M,et al.Quantitative assessment of Wilms tumor 1expression by real-time quantitative polymerase chain reaction in patients with acute myeloblastic leukemia[J].J Res Med Sci,2017,22:54.
[3]Qin H,Malek S,Cowell JK,et al.Transformation of human CD34+hematopoietic progenitor cells with DEK-NUP214induces AML in an immunocompromised mouse model[J].Oncogene,2016,35:5686-5691.
[4]Zhou MH,Yang QM.NUP214fusion genes in acute leukemia(Review)[J].Oncol Lett,2014,8:959-962.
[5]Oancea C,Rüster B,Brill B,et al.STAT activation status differentiates leukemogenic from non-leukemogenic stem cells in AML and is suppressed by arsenic in t(6;9)-positive AML[J].Genes Cancer,2014,5:378-392.
[6]Sitwala KV,Adams K,Markovitz DM.YY1and NF-Ybinding sites regulate the transcriptional activity of the dek and dek-can promoter[J].Oncogene,2002,21:8862-8870.
[7]Ageberg M,Gullberg U,Lindmark A.The involvement of cellular proliferation status in the expression of the human proto-oncogene DEK[J].Haematologica,2006,91:268-269.
[8]Saito S,Cigdem S,Okuwaki M,et al.Leukemia-associated Nup214fusion proteins disturb the XPO1-mediated nuclear-cytoplasmic transport pathway and thereby the NF-κB signaling pathway[J].Mol Cell Biol,2016,36:1820-1835.
[9]Saha AK,Kappes F,Mundade A,et al.Intercellular trafficking of the nuclear oncoprotein DEK[J].Proc Natl Acad Sci U S A,2013,110:6847-6852.
[10]Sandén C,Ageberg M,Petersson J,et al.Forced expression of the DEK-NUP214fusion protein promotes proliferation dependent on upregulation of mTOR[J].BMC Cancer,2013,13:440.
[11]Garcon L,Libura M,Delabesse E,et al.DEK-CANmolecular monitoring of myeloid malignancies could aid therapeutic stratification[J].Leukemia,2005,19:1338-1344.
[12]Sandahl JD,Coenen EA,Forestier E,et al.(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia:an international study of 62 patients[J].Haematologica,2014,99:865-872.
[13]刘田田,杨文娟,潘耀柱,等.DEK/CAN基因阳性急性髓系白血病1例[J].中国肿瘤临床,2016,43(24):1114-1114.
[14]李丽宁,于书春,白晓.伴dek/can融合基因阳性急性髓系白血病1例[J].检验医学与临床,2013,10(8):8-8.
[15]杨光,赵瑾,石磊,等.恶性血液病常见易位相关融合基因的检测[J].中国现代医生,2009,47(29):3-4.
[16]Panagopoulos I,Gorunova L,Torkildsen S,et al.DEK-NUP214-fusion identified by RNA-sequencing of an acute myeloid leukemia with t(9;12)(q34;q15)[J].Cancer Genomics Proteomics,2017,14:437-443.