Zhang Guangji, Song Yang, Wan Li, Liu Kaiqi, Qiu Shaowei, Wang Jianxiang, Mi Yingchang
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, 300020, China.
Blood Sci. 2022 May 17;4(2):93-96. doi: 10.1097/BS9.0000000000000111. eCollection 2022 Apr.
Acute promyelocytic leukemia (APL) is mostly due to the chromosome translocation t (15; 17) (q22; q12), leading to the formation of fusion protein. Some patients carried rare translocation involving RARA gene, who were called variant APL caused by RAR family (RARA, RARB, and RARG) and partner genes. was a rare type of molecular genetic abnormality with unfavorable prognosis which have been reported in only 18 cases in variant APL. Knowledge of (+) APL treatment is still limited.
We presented a 38-year-old female variant APL case, who was positive detected by reverse transcription polymerase chain reaction. The patient failed to respond after four-drug combined induction chemotherapy: idarubicin, cytarabine, all trans retinoic acid, and arsenic trioxide (AsO). Then, the patient was re-induced with azacytidine, but still failed to achieve complete remission (CR). Next, she was treated with Venetoclax combining with homoharringtonine and cytarabine as the salvage therapy and achieved CR. Later, the patient received hematopoietic stem cell transplantation after 4 cycles of consolidation therapy.
Venetoclax combining with homoharringtonine and cytarabine has been used as the salvage therapy in the positive APL successfully.
急性早幼粒细胞白血病（APL）主要是由于染色体易位t（15；17）（q22；q12），导致融合蛋白的形成。一些患者携带涉及RARA基因的罕见易位，这些患者被称为由RAR家族（RARA、RARB和RARG）和伙伴基因引起的变异型APL。这是一种罕见的分子遗传异常类型，预后不良，变异型APL仅报道了18例。关于（+）APL治疗的知识仍然有限。
我们报告了一例38岁的女性变异型APL病例，通过逆转录聚合酶链反应检测呈阳性。患者在接受阿糖胞苷、去甲氧柔红霉素、全反式维甲酸和三氧化二砷（AsO）四联诱导化疗后无反应。然后，患者接受阿扎胞苷再次诱导，但仍未达到完全缓解（CR）。接下来，她接受维奈克拉联合高三尖杉酯碱和阿糖胞苷作为挽救治疗并实现了CR。之后，患者在进行4个周期的巩固治疗后接受了造血干细胞移植。
维奈克拉联合高三尖杉酯碱和阿糖胞苷已成功用作（+）APL的挽救治疗。
