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. 2016 May 6;30(8):1672–1681. doi: 10.1038/leu.2016.69

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Copyright © 2016 Macmillan Publishers Limited

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/

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Spectrum of somatic mutations at APL relapse. (a) Matrix displays top 15 genes recurrently mutated at relapsed APL. Each column represents a relapse sample. Genes are arranged according to decreasing mutational frequencies from top to bottom. Right panel illustrates the number of mutations for all genes. Only those relapse samples that harbor mutations of top 15 genes are included in the matrix. (b–d) Protein domains for RARA (b), PML (c) and RUNX1 (d) are drawn using the DOG 2.0 software (http://dog.biocuckoo.org), and type and location of validated mutations are illustrated. Information about protein domains was obtained from Human Protein Reference Database (http://www.hprd.org). All except one missense mutation (E699K) of PML were found in relapse samples. One frameshift deletion in PML transcript NM_033249 (NP_15025; S482fs) is not shown. All mutations of RARA were detected in relapse. Only one of the six mutations of RARA occurred in newly diagnosed samples.