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

• Published in: Chinese medical journal 2008-09, Vol.121 (17), p.1744-1746
• Main Authors: Gao, Na, Li, Zhi-Hong, Ding, Bu-Tong, Chen, Yun, Wang, Yun-Shan, Qiao, Ying, Guo, Nong-Jian
• Format: Article
• Language: English
• Subjects: Adolescent; Fucosyltransferases - genetics; Gene Rearrangement; Humans; Leukemia, Myeloid, Acute - genetics; M4Eo; Male; Protein-Tyrosine Kinases - genetics; 病例研究; 白血病
• ISSN: 0366-6999; 2542-5641
• DOI: 10.1097/00029330-200809010-00029

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.