目的 总结罕见的TTMV::RARA融合基因阳性急性早幼粒细胞白血病（APL）患儿的诊疗过程，探讨疾病临床特点、治疗及预后。方法 回顾性分析1例2024年1月收治的TTMV::RARA融合基因阳性APL患儿的临床资料，并复习相关文献。结果 患儿为13岁女性，初诊表现为三系血细胞异常（白细胞20.29×10⁹/L、血红蛋白76 g/L、血小板76×10⁹/L）及骨痛症状。经MICM分型确诊为APL、TTMV::RARA融合基因阳性伴SF3B1基因变异。患儿接受个体化强化治疗，即全反式维A酸（ATRA）联合三氧化二砷（ATO）诱导，联合阿糖胞苷（Ara-C）、米托蒽醌（MTZ）强化化疗，后续在巩固化疗期间行自体外周血造血干细胞移植，并在移植后接受多周期维持治疗。截至2025年7月（移植后11个月），患儿持续维持分子生物学缓解（TTMV::RARA数字PCR阴性）、无病生存（DFS）达14个月。本文病例加文献报道的9例病例，共10例，男5例、女5例，中位年龄7.5（2~17）岁，这些患儿对ATRA联合ATO的治疗方案显示出初始敏感性。10例患儿的转归如下：1例未接受移植，化疗后持续缓解6个月，但后续经历两次复发，最终因疾病进展死亡；1例在第1次完全缓解期（CR1）时行自体外周血造血干细胞移植，并持续缓解；4例在CR1后行异基因造血干细胞移植（allo-HSCT），其中2例持续缓解，1例复发，1例死亡（非复发死亡）；4例在复发后第2次完全缓解期（CR2）接受allo-HSCT，其中2例持续缓解，1例复发，1例死亡。结论 对于形态学符合APL但PML::RARA及其变异型均阴性的患者，应尽早通过转录组测序（RNA-seq）等技术筛查TTMV等罕见融合基因。TTMV::RARA融合基因阳性APL通常提示预后不良，推荐采用ATRA+ATO联合强化化疗，并尽早行allo-HSCT，无条件者可考虑自体外周血造血干细胞移植，以期实现深度持续缓解。

Objective To summarize the diagnosis and treatment process of a pediatric patient with rare TTMV::RARA fusion gene-positive acute promyelocytic leukemia (APL), and to explore the disease's clinical characteristics, treatment, and prognosis. Methods A retrospective analysis was conducted on the clinical data of a child with TTMV::RARA fusion gene-positive APL admitted in January 2024, and the relevant literature was reviewed. Results The patient, a 13-year-old girl, initially presented with abnormal hematopoiesis (white blood cell count 20.29×10⁹/L, hemoglobin 76 g/L, platelet count 76×10⁹/L) and bone pain. A diagnosis of APL with TTMV::RARA fusion positivity accompanied by an SF3B1 mutation was confirmed via MICM (Morphology, Immunology, Cytogenetics, Molecular biology) classification. The patient received personalized intensive therapy, which consisted of induction with all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO), along with intensified chemotherapy including cytarabine (Ara-C) and mitoxantrone (MTZ). Subsequently, autologous peripheral blood hematopoietic stem cell transplantation (APBSCT) was performed during consolidation chemotherapy, and multiple cycles of maintenance treatment were received after the transplantation. As of July 2025 (11 months post-transplant), the patient remains in sustained molecular remission (TTMV::RARA digital PCR-negative), with a disease-free survival (DFS) of 14 months. This article includes 9 cases from literature reports and 1 case from the current study, totaling 10 cases. There were 5 boys and 5 girls, with a median age of 7.5 (2 to 17) years. These children showed initial sensitivity to the treatment regimen of ATRA combined with ATO. The outcomes of the 10 pediatric patients were as follows: The patient did not undergo transplantation, remained in remission for 6 months after chemotherapy, but subsequently experienced two relapses and ultimately succumbed to disease progression; one patient underwent APBSCT during the first complete remission (CR1) and remained in continuous remission; four patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) after achieving CR1, among whom two remained in continuous remission, one experienced relapse, and one died (due to non-relapse causes); four patients received allo-HSCT during the second complete remission (CR2) after relapse, among whom two remained in continuous remission, one experienced relapse, and one died. Conclusions For patients with morphologically consistent APL who test negative for both PML::RARA and its variant fusions, rare fusion genes such as TTMV should be screened as early as possible using techniques like transcriptome sequencing (RNA-seq). TTMV::RARA fusion gene positive APL usually indicates a poor prognosis. It is recommended to use ATRA+ATO combined intensive chemotherapy and perform allo-HSCT as soon as possible. For those who do not have the conditions, APBSCT can be considered to achieve deep and sustained remission.