A complex variant t(3;15) (q26;q13) representing cryptic/masked acute promyelocytic leukaemia with a novel breakpoint of chromosome 15—a case report
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چکیده
Acute promyelocytic leukaemia (APML) is a biologically and clinically distinct variant of AML, currently classified as acute myeloid leukaemia with recurrent cytogenetic anomalies t(15;17) (q22;q21), promyelocytic leukaemia-retinoic acid receptor alpha, diagnosis regardless of blast count in the World Health Organization classification system. It is one of the curable malignancies, has a unique clinical presentation, often with disseminated intravascular coagulation, and has a targeted therapy for its treatment in the form of all trans retinoic acid (ATRA) and arsenic trioxide (ATO). Here, we report a complex type of variant APML t(3;15) (q26;q13), the need for conventional karyotyping for diagnosing such rare variants, and its response to ATRA and ATO.
منابع مشابه
Coexistence of t(15;17) and t(15;16;17) detected by fluorescence in situ hybridization in a patient with acute promyelocytic leukemia: A case report and literature review
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current study presents the case of a 54-year-old female with APL carrying the atypical PML/RARA fusion signal due to a novel complex variant translocation t(15;16;17)(q22;q24;q21), ...
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Acute promyelocytic leukaemia (APML) is characterised by the t(15;17)(q22;q21), that results in the fusion of the promyelocytic leukaemia (PML) gene at 15q22 with the retinoic acid α-receptor (RARA) gene at 17q21. The current case report describes a 13-year-old male with APML, who was negative for PML/RARA fusion signal but reported to have an atypical translocation t(16;17). To the best of our...
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