Elzamly Shaimaa, Chavali Santosh, Tonk Vijay, Tonk Sahil, Gaur Sumit, Tarango Darlene, Torabi Alireza
Pathology Department, Faculty of Medicine, Benha University, Benha, Egypt.
Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, TX, USA.
SAGE Open Med Case Rep. 2018 Jan 4;6:2050313X17750334. doi: 10.1177/2050313X17750334. eCollection 2018.
Chromosomal rearrangement involving the gene is one of the most common genetic alteration in acute myeloid leukemia. A total of 135 different rearrangements have been identified, where 94 translocation partner genes are now characterized at the molecular level. Of these 94 translocation partner genes, 35 translocation partner genes occur recurrently, but only 9 specific gene fusions account for more than 90% of cases. Translocation of with gene at 22q11.2 is rare, with few reported cases in the literature. In this report, we are presenting a case of fusion in de novo acute myeloid leukemia with t(11;22)(q23;q11.2) with a review of the literature.
涉及该基因的染色体重排是急性髓系白血病中最常见的基因改变之一。总共已鉴定出135种不同的重排，其中94个易位伙伴基因现已在分子水平上得到表征。在这94个易位伙伴基因中，35个易位伙伴基因反复出现，但只有9种特定的基因融合占病例的90%以上。该基因与位于22q11.2的基因发生易位很少见，文献中报道的病例很少。在本报告中，我们报告了一例伴有t(11;22)(q23;q11.2)的初发急性髓系白血病中该基因融合的病例并对文献进行了综述。
