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

Ak, Bilgesu
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Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye

Gungor, Ozge
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Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye

Karaca, Emin
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Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye

Durmaz, Burak
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Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye

Bozer, Denis S.
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Ege Univ Hosp, Dept Hematol, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye

Tobu, Mahmut
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Ege Univ Hosp, Dept Hematol, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye

Akin, Haluk
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h-index: 0
机构:
Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye
机构:
[1] Ege Univ Hosp, Dept Med Genet, TR-35100 Izmir, Turkiye
[2] Ege Univ Hosp, Dept Hematol, TR-35100 Izmir, Turkiye
来源:
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).
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页码:48 / 51
页数:4
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