Chen Fang, Yang Ying, Fu Shuang
Department of Hematology Laboratory, Shengjing Hospital of China Medical University, Shenyang, China.
Division of Hematology, Department of Medicine, Shengjing Hospital of China Medical University, Shenyang, China.
Front Med (Lausanne). 2022 Sep 21;9:890959. doi: 10.3389/fmed.2022.890959. eCollection 2022.
The fusion gene is a relatively rare genetic event in leukemia. Its clinical characteristics and prognosis, especially the profile of co-occurring gene mutations remain unclear.
We retrospectively analyzed the characteristics of four cases carrying in our hospital, and provided a literature review.
All the four patients were diagnosed with acute myeloid leukemia (AML) and harbored X chromosome and 11 chromosome rearrangements, they all manifested high levels of D-dimer. Three of four patients had mutations while one patient with congenital AML did not. Of the four cases, one developed drug resistance, one suffered relapse after bone marrow transplantation (BMT) and two died. Combined with other cases reported in the literature, we found that of all patients diagnosed with AML, 90.9% were children (≤9 years old). Patients with white blood cells ≥20.0 × 10/L or diagnosed with M4 had a shorter overall survival ( < 0.05). Age, whether to receive BMT, and the chromosome rearrangement patterns had no significant effect on overall survival ( > 0.05).
was more commonly observed in pediatric AML patients, some of which may co-occur with mutations. The prognosis was related to the white blood cell levels and the leukemia subtype, but was not related to age or BMT. More cases need to be accumulated to better understand the profile in -positive AML.
融合基因在白血病中是一种相对罕见的遗传事件。其临床特征和预后，尤其是同时发生的基因突变情况仍不清楚。
我们回顾性分析了我院收治的4例携带该基因的患者的特征，并进行文献复习。
4例患者均诊断为急性髓系白血病（AML），均存在X染色体和11号染色体重排，均表现为D-二聚体水平升高。4例患者中有3例存在基因突变，1例先天性AML患者未发生基因突变。4例患者中，1例出现耐药，1例骨髓移植（BMT）后复发，2例死亡。结合文献报道的其他病例，我们发现所有诊断为AML的患者中，90.9%为儿童（≤9岁）。白细胞≥20.0×10⁹/L或诊断为M4的患者总生存期较短（P<0.05）。年龄、是否接受BMT以及染色体重排模式对总生存期无显著影响（P>0.05）。
该基因在儿童AML患者中更常见，部分可能与基因突变同时发生。预后与白细胞水平和白血病亚型有关，但与年龄或BMT无关。需要积累更多病例以更好地了解该基因阳性AML的情况。
