Bhat H, Geelani S, Rashid M, Bhat T, Qadri M, Bashir N N, Manzoor F, Bhat S, Rather F, Rasool J
Sheri-kashmir Institute of Medical Sciences (SKIMS), Department of Clinical Hematology, Srinagar, Jammu and Kashmir (J&K), India. bashirnusrat@ymail.
Malays J Pathol. 2016 Dec;38(3):311-313.
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 knowledge this is the first case report of APML responsive to ATRA with such a translocation.
急性早幼粒细胞白血病（APML）的特征是t(15;17)(q22;q21)，该异常导致位于15q22的早幼粒细胞白血病（PML）基因与位于17q21的维甲酸α受体（RARA）基因融合。本病例报告描述了一名患有APML的13岁男性，其PML/RARA融合信号为阴性，但报告存在非典型易位t(16;17)。据我们所知，这是首例具有这种易位且对全反式维甲酸（ATRA）有反应的APML病例报告。
