A complex t(15;22;17)(q22;q11.2;q21) variant of APL

被引:0
作者
Ak, Bilgesu [1 ]
Gungor, Ozge [1 ]
Karaca, Emin [1 ]
Durmaz, Burak [1 ]
Bozer, Denis S. [2 ]
Tobu, Mahmut [2 ]
Akin, Haluk [1 ]
机构
[1] Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye
[2] Ege Univ Hosp, Dept Hematol, TR-35100 Izmir, Turkiye
关键词
APL; Acute promyelocytic leukemia; Three-way translocation; ATRA; ACUTE PROMYELOCYTIC LEUKEMIA; TRANSLOCATIONS;
D O I
10.1016/j.cancergen.2024.07.003
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
The present study described an extremely rare case of acute promyelocytic leukemia (APL) characterized by a complex three-way (15;22;17)(q22;q11.2;q21) translocation. Acute promyelocytic leukemia (APL) is a specific subtype of acute myeloid leukemia with distinctive clinical and therapeutic characteristics. Besides being characterized by the t(15;17)(q22;q12) translocation, this subtype is also notable for its response to all-transretinoic acid (ATRA) treatment. APL is highly responsive to a combination of ATRA and chemotherapeutic agents, achieving over 90 % complete remission rates and over 80 % long-term remission rates. In this case, a 79- year-old male patient presented with complaints of weakness, fatigue, and petechial rash, with no other significant medical history except for diabetes mellitus and hypertension. Conventional cytogenetic methods, dual- color dual-fusion, and dual-color break-apart fluorescent in situ hybridization techniques together identified the t (15;22;17) translocation. RT-PCR analysis was performed for expression of PML/RARA fusion transcripts. The patient, diagnosed with APL, exhibited a complete response to all-trans retinoic acid (ATRA) and idarubicin treatment. In this paper, we present the second documented case of t(15;22;17) and explore the remarkable remission observed following treatment with All-Trans Retinoic Acid (ATRA).
引用
收藏
页码:48 / 51
页数:4
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