The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations

PLoS One. 2016 Feb 17;11(2):e0148346. doi: 10.1371/journal.pone.0148346. eCollection 2016.

Abstract

Preliminary Acute Promyelocytic Leukemia (APL) whole exome sequencing (WES) studies have identified a huge number of somatic mutations affecting more than a hundred different genes mainly in a non-recurrent manner, suggesting that APL is a heterogeneous disease with secondary relevant changes not yet defined. To extend our knowledge of subtle genetic alterations involved in APL that might cooperate with PML/RARA in the leukemogenic process, we performed a comprehensive analysis of somatic mutations in APL combining WES with sequencing of a custom panel of targeted genes by next-generation sequencing. To select a reduced subset of high confidence candidate driver genes, further in silico analysis were carried out. After prioritization and network analysis we found recurrent deleterious mutations in 8 individual genes (STAG2, U2AF1, SMC1A, USP9X, IKZF1, LYN, MYCBP2 and PTPN11) with a strong potential of being involved in APL pathogenesis. Our network analysis of multiple mutations provides a reliable approach to prioritize genes for additional analysis, improving our knowledge of the leukemogenesis interactome. Additionally, we have defined a functional module in the interactome of APL. The hypothesis is that the number, or the specific combinations, of mutations harbored in each patient might not be as important as the disturbance caused in biological key functions, triggered by several not necessarily recurrent mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome / genetics
  • Gene Regulatory Networks*
  • Genome, Human
  • Humans
  • INDEL Mutation / genetics
  • Leukemia, Promyelocytic, Acute / genetics*
  • Mutation / genetics*
  • Mutation Rate
  • Polymorphism, Single Nucleotide / genetics
  • Reproducibility of Results

Grants and funding

This study was supported in part by research funding from “Fundación Española de Hematología (FEHH)”; “Red Temática de Investigación Cooperativa en Cancer” grant (RD12/0036/0014); “Instituto de Salud Carlos III” grants PI12/01047, PI13/01640, PT13/0010/0026 and PIE13/00046; from the “Consellería de Educación, Cultura y Deporte” of the Valencian Community (PROMETEOII/2014/025 and PROMETEOII/2015/008) and from the Spanish Ministry of Economy and Competitiveness (BIO2014-57291-R).