Expression of ETV6 rearrangement in a subject with acute myeloid leukemia-M4Eo  

作　　者：GAO Na LI Zhi-hong DING Bu-tong CHEN Yun WANG Yun-shan QIAO Ying GUO Nong-jian 

机构地区：[1]Hematology Department, Central Hospital of Jinan, Shandong University, Jinan, Shandong 250013, China [2]Xinglongzhuang Coal Mine Hospital of Yankuang Group, Jining, Shandong 272102, China [3]Clinical Laboratory, Central Hospital of Jinan, Shandong University, Jinan, Shandong 250013, China [4]Departments of Pathology and Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, B.C.V5Z 1W5, Canada

出　　处：《Chinese Medical Journal》2008年第17期1744-1746,共3页中华医学杂志（英文版）

摘　　要：Acute myeloid leukemia （AML） M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv（16）. The Ets variant gene 6 （ETV6）, mapped to 12p13, is an ETS family transcription factor that is essential for hematopoietic processes,l The ETV6 gene-involved chromosomal translocations have been found in many hematological malignancies characterized by fusing to a number of different partner genes; mainly coding for tyrosine kinases or transcription factors which are important for the initiation, progress and prognosis of disease.2 In particular, the ETV6 gene has been reported to be fused to ABL in acute lymphocytic leukemias （ALL）,3 and chronic myeloid leukemia （CML）.4 However, there have been few domestic reports of ETV6 fusion genes, especially in cases of acute leukemia. We investigated 3 cases of AML-M4Eo patients using Split-signal Fluorescence in situ hybridization （FISH） and found one case with a translocation between 12p13 and lq25 co-occurring with an inv（16）. The ETV6/ARG （ABL-related gene） fusion transcript was confirmed by reverse transcriptase-polymerase （RT-PCR）. This is the report of ARG chain reaction involvement in a translocation in a human malignancy.Acute myeloid leukemia （AML） M4Eo type is a hematological malignancy with abnormal eosinophilia, which is often accompanied by inv（16）. The Ets variant gene 6 （ETV6）, mapped to 12p13, is an ETS family transcription factor that is essential for hematopoietic processes,l The ETV6 gene-involved chromosomal translocations have been found in many hematological malignancies characterized by fusing to a number of different partner genes; mainly coding for tyrosine kinases or transcription factors which are important for the initiation, progress and prognosis of disease.2 In particular, the ETV6 gene has been reported to be fused to ABL in acute lymphocytic leukemias （ALL）,3 and chronic myeloid leukemia （CML）.4 However, there have been few domestic reports of ETV6 fusion genes, especially in cases of acute leukemia. We investigated 3 cases of AML-M4Eo patients using Split-signal Fluorescence in situ hybridization （FISH） and found one case with a translocation between 12p13 and lq25 co-occurring with an inv（16）. The ETV6/ARG （ABL-related gene） fusion transcript was confirmed by reverse transcriptase-polymerase （RT-PCR）. This is the report of ARG chain reaction involvement in a translocation in a human malignancy.

关 键 词：Ets variant gene 6 ABL-related gene M4EO acute myeloid leukemia 

分 类 号：R733.7[医药卫生—肿瘤]