title: Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing.
abstract: 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.
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Jeremy D K
authors.initials: JD
authors.lastname: Parker
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Yaoqing
authors.initials: Y
authors.lastname: Shen
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Erin
authors.initials: E
authors.lastname: Pleasance
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Li
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Jacqueline E
authors.initials: JE
authors.lastname: Schein
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Yongjun
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Richard
authors.initials: R
authors.lastname: Moore
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Joanna
authors.initials: J
authors.lastname: Wegrzyn-Woltosz
authors.affiliation: Centre for Lymphoid Cancer and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Kerry J
authors.initials: KJ
authors.lastname: Savage
authors.affiliation: Terry Fox Laboratory and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Weng
authors.affiliation: Centre for Lymphoid Cancer and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Randy D
authors.initials: RD
authors.lastname: Gascoyne
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Steven
authors.initials: S
authors.lastname: Jones
authors.affiliation: Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
authors.forename: Marco
authors.initials: M
authors.lastname: Marra
authors.affiliation: Department of Medical Oncology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 4E6, Canada;
authors.forename: Janessa
authors.initials: J
authors.lastname: Laskin
authors.affiliation: Genome Sciences Centre and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.
authors.forename: Aly
authors.initials: A
authors.lastname: Karsan
keywords: increase in B cell number; lymphocytosis