Shi Linda, Chen Chu En, Ahmed Tahmeena, Rocha Jacob, Materum Pons, Cherukuri Sashank, Gallagher Leah, Fernicola Paula, Ponce Roxana, Lee Htien, Giordano Christina, Evans Gabriela, Tian Changtai, Tirado Carlos A
The International Circle of Genetics Studies Project, New York Chapter, 25 Pinnacle Dr., New York, NY 11777, USA.
Renaissance School of Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
Diagnostics (Basel). 2025 Jul 29;15(15):1901. doi: 10.3390/diagnostics15151901.
We present a 48-year-old female with a past medical history of endometrioid adenocarcinoma who presented with symptoms of spontaneous gum bleeding, post-coital bleeding, and upper extremities-lower extremities-abdomen ecchymosis. Initial laboratory findings were significant for cytopenia and disseminated intravascular coagulation (DIC). Due to a suspected case of acute promyelocytic leukemia (APL), conventional karyotyping and fluorescence in situ hybridization (FISH) were performed. FISH analysis confirmed an unusual chromosome rearrangement that affected chromosomes 3, 15, and 17. This t(3;15;17)(q29;q24;q21) was characterized by the presence of fusion on the derivative chromosome 15. Treatment at the hospital with standard APL therapy of all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) was complicated by the development of differentiation syndrome, which necessitated the temporary stoppage of ATO. However, complete remission was achieved despite complications after starting consolidation treatment.
我们报告一名48岁女性，既往有子宫内膜样腺癌病史，出现自发性牙龈出血、性交后出血以及上肢、下肢和腹部瘀斑症状。初始实验室检查结果显示血细胞减少和弥散性血管内凝血（DIC）。由于疑似急性早幼粒细胞白血病（APL），进行了传统核型分析和荧光原位杂交（FISH）。FISH分析证实了一种影响3号、15号和17号染色体的异常染色体重排。这种t(3;15;17)(q29;q24;q21)的特征是在衍生染色体15上存在融合。在医院接受全反式维甲酸（ATRA）和三氧化二砷（ATO）的标准APL治疗时，出现了分化综合征，这使得ATO不得不暂时停用。然而，尽管在开始巩固治疗后出现了并发症，但仍实现了完全缓解。
