Acute Promyelocytic Leukemia

Xavier Thomas,Maël Heiblig

doi:10.3390/cancers12123718

Abstract

Highlights

Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML) cytogenetically characterized by a balanced reciprocal translocation between chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor-α (RARα)
The series of eight articles, presented by international leaders in the field of biology and treatment of APL, in this special issue of Cancers, approaches major issues among areas of ongoing needs, such as a better understanding of relationships between genetic events involved in APL, of APL-like diseases, of blast characteristics of prognostic value, of mechanisms and prevention of the differentiation disease favored by all-trans retinoic acid (ATRA) and/or arsenic trioxide (ATO) therapy, and of decision-making in specific situations such as APL arising during pregnancy
Analyses by next-generation sequencing (NGS) approaches helped to determine molecular profiles defined by recurrent alterations in genes associated with signaling pathways (FLT3, NRAS, KRAS), tumor suppression (WT1), chromatin organization (AR1D1B, AR1D1A), oncogenes (SALL4, MED12, NSD1), and rarer mutations in other pathways, including NPM1 mutations, DNA methylation (DNMT3A, IDH1/2, TET2), or epigenetic regulation (ASXL1)

Summary

Introduction

Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML) cytogenetically characterized by a balanced reciprocal translocation between chromosomes 15 and 17, which results in the fusion between the promyelocytic leukemia (PML) gene and retinoic acid receptor-α (RARα). Despite the fact that APL is one of the most characterized form of AML and constant advances have been made in its treatment, open issues remain.

Results

Conclusion