Bafail Mohammed A, AlTahan Rahaf, Samman Manar A, Tashkandi Suha A, Motabi Ibraheem H, Peer-Zada Abdul Ali
Department of Pathology and Clinical Laboratory Medicine, Administration, Hematology, Molecular Pathology and Cytogenetics Sections King Fahad Medical City Riyadh Saudi Arabia.
Department of Adult Hematology and Bone Marrow Transplantation King Fahad Medical City Riyadh Saudi Arabia.
Clin Case Rep. 2023 Jul 6;11(7):e07637. doi: 10.1002/ccr3.7637. eCollection 2023 Jul.
Complete molecular remission in a "variant APL" patient with short isoform of and mutation was achieved in response to ATRA and ATO plus IDA instead of standard treatment protocol. The use of inhibitor in APL induction management is implicated to prevent differentiation syndrome and coagulopathy experienced in in patients with
mutations are the most common activating mutations in gene, occurring in about 12 to 38% of acute promyelocytic leukemia cases, and are mainly associated with high white blood cell counts and poor clinical outcomes. Here, we present a case of APL variant with adverse prognostic features who showed short isoform [bcr3] of and ITD mutation at diagnosis. The patient received all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) plus idarubicin (IDA) instead of standard treatment protocol, and achieved a complete morphological, cytogenetic and molecular response. However, the patient experienced differentiation syndrome, and coagulopathy that was subsequently resolved by continuous oxygen therapy, dexamethasone, and enoxaparin. The use of inhibitor in APL induction management is implicated to prevent differentiation syndrome and coagulopathy in patients with ITD mutation.
一名具有 短异构体和 突变的“变异型急性早幼粒细胞白血病（APL）”患者，在接受全反式维甲酸（ATRA）、三氧化二砷（ATO）加去甲氧柔红霉素（IDA）治疗而非标准治疗方案后，实现了完全分子缓解。在APL诱导治疗中使用 抑制剂可预防 突变患者出现分化综合征和凝血病。
突变是 基因中最常见的激活突变，约12%至38%的急性早幼粒细胞白血病病例中会出现，主要与高白细胞计数和不良临床结果相关。在此，我们报告一例具有不良预后特征的APL变异型病例，该患者在诊断时表现为 的短异构体[bcr3]和内部串联重复（ITD）突变。患者接受了全反式维甲酸（ATRA）、三氧化二砷（ATO）加去甲氧柔红霉素（IDA）而非标准治疗方案，并实现了完全形态学、细胞遗传学和分子反应。然而，患者出现了分化综合征和凝血病，随后通过持续吸氧、地塞米松和依诺肝素得以解决。在APL诱导治疗中使用 抑制剂可预防ITD突变患者出现分化综合征和凝血病。
