Zhang Guangsen Team of molecular blood disease lab, the Second Xiangya Hospital of Central South University reported recently a new subtype of acute promyelocytic leukemia (APL) and they found and cloned its pathogenic gene GTF2I-RARA for the first time.
As the third kind of pathogenic gene of APL found and reported by Chinese scholars, it is also the tenth variant APL fusion gene reported worldwide currently. The relevant achievement was published on British Journal of Haematology online a few days ago.
It is said that the fusion gene has a length of 1797 base pairs, is coded 598 amino acids in total, has been registered in GenBank database of the U.S. National Center for Biotechnology Information and meanwhile has been formally publicized globally and copied to European Human Gene Bank and Japanese DNA Database recently.
The finding started from the clinic. During the diagnosis of one patient with non-typical difficult acute leukemia by the team led by Zhang Guangsen who is among the first "Xiangya famous doctors" of Central South University, they found that the patient's potential cytogenetics and molecular biology to be abnormal by using multiple analysis means and confirmed that the patient carried variant APL. Thereafter, researchers found that there was one new fusion gene on the patient by using the new sequencing technique, and cloned the full length of coding sequence of the gene, thus resulting in the above finding.
Unlike the classical APL, the finding of GTF2I-RARA variant APL not only enriches disease type of APL, but also is of significance for finally revealing the pathogenesis of APL with the further deepening of research.
