A complex variant t(3;15) (q26;q13) representing cryptic/masked acute promyelocytic leukaemia with a novel breakpoint of chromosome 15-a case report

Ecancermedicalscience. 2013 Aug 15:7:340. doi: 10.3332/ecancer.2013.340. eCollection 2013.

Abstract

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.

Keywords: APML; ATRA; variant translocation.