Department of Hematology, The Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, People's Republic of China.
Hematology. 2023 Dec;28(1):2186040. doi: 10.1080/16078454.2023.2186040.
The Philadelphia (Ph) chromosome results from the formation of breakpoint cluster region ()-Abelson 1 () fusion gene (). The most common type of adult acute lymphoblastic leukaemia (ALL) is Ph chromosome-positive (Ph+); Ph+ ALL has an incidence of 25%∼30%. Several types of fusion transcripts have been reported, including e1a2, e13a2 and e14a2. In addition, some rare transcripts, such as e1a3, have been reported in chronic myeloid leukaemia. However, until now, the presence of e1a3 fusion transcripts has only been reported in a few cases of ALL. In this study, a rare e1a3 fusion transcript was found in a patient diagnosed with Ph+ ALL. However, the patient also suffered from severe agranulocytosis with pulmonary infection and died after being transferred to the intensive care unit before the significance of the presence of e1a3 fusion transcript could be determined. In conclusion, e1a3 fusion transcripts related to Ph+ ALL cases need to be better identified, and appropriate treatment strategies must be designed for such cases.
费城 (Ph) 染色体是由断裂点簇区 ()-Abelson1 () 融合基因 () 的形成导致的。成人急性淋巴细胞白血病 (ALL) 最常见的类型是 Ph 染色体阳性 (Ph+);Ph+ ALL 的发病率为 25%∼30%。已经报道了几种类型的 融合转录本,包括 e1a2、e13a2 和 e14a2。此外,在慢性髓性白血病中还报道了一些罕见的 转录本,如 e1a3。然而,到目前为止,e1a3 融合转录本仅在少数 ALL 病例中被报道。在这项研究中,在诊断为 Ph+ ALL 的患者中发现了一种罕见的 e1a3 融合转录本。然而,该患者还患有严重的粒细胞缺乏症伴肺部感染,并在转入重症监护病房之前死亡,因此无法确定 e1a3 融合转录本存在的意义。总之,需要更好地鉴定与 Ph+ALL 病例相关的 e1a3 融合转录本,并为这些病例设计适当的治疗策略。