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6174892 
Journal Article 
Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing 
Gascoyne, RD; Jones, S; Karsan, A; Laskin, J; Li, Y; Marra, M; Moore, R; Parker, JDK; Pleasance, E; Savage, KJ; Schein, JE; Shen, Y; Wegrzyn-Woltosz, J; Weng, AP; Zhao, Y 
2016 
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In an attempt to assess potential treatment options, whole-genome and transcriptome sequencing were performed on a patient with an unclassifiable small lymphoproliferative disorder. Variants from genome sequencing were prioritized using a combination of comparative variant distributions in a spectrum of lymphomas, and meta-analyses of gene expression profiling. In this patient, the molecular variants that we believe to be most relevant to the disease presentation most strongly resemble a diffuse large B-cell lymphoma (DLBCL), whereas the gene expression data are most consistent with a low-grade chronic lymphocytic leukemia (CLL). The variant of greatest interest was a predicted NOTCH2-truncating mutation, which has been recently reported in various lymphomas. 
Biotechnology and Bioengineering Abstracts; Chronic lymphatic leukemia; Reviews; Etiology; Immunoproliferative diseases; Data processing; Genomes; Mutation; Gene expression; B-cell lymphoma; W 30965:Miscellaneous, Reviews