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Parker JD, Shen Y, Pleasance E, et al. Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2016;2(2):a000679doi: 10.1101/mcs.a000679.
Parker, J. D., Shen, Y., Pleasance, E., Li, Y., Schein, J. E., Zhao, Y., Moore, R., Wegrzyn-Woltosz, J., Savage, K. J., Weng, A. P., Gascoyne, R. D., Jones, S., Marra, M., Laskin, J., & Karsan, A. (2016). Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing. Cold Spring Harbor molecular case studies, 2(2), a000679. https://doi.org/10.1101/mcs.a000679
Parker, Jeremy D K, et al. "Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing." Cold Spring Harbor molecular case studies vol. 2,2 (2016): a000679. doi: https://doi.org/10.1101/mcs.a000679
Parker JD, Shen Y, Pleasance E, Li Y, Schein JE, Zhao Y, Moore R, Wegrzyn-Woltosz J, Savage KJ, Weng AP, Gascoyne RD, Jones S, Marra M, Laskin J, Karsan A. Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000679. doi: 10.1101/mcs.a000679. PMID: 27148583; PMCID: PMC4849852.
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Cold Spring Harb Mol Case Stud. 2016 Mar;2(2):a000679. doi: 10.1101/mcs.a000679.

Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencing.

Cold Spring Harbor molecular case studies

Jeremy D K Parker, Yaoqing Shen, Erin Pleasance, Yvonne Li, Jacqueline E Schein, Yongjun Zhao, Richard Moore, Joanna Wegrzyn-Woltosz, Kerry J Savage, Andrew P Weng, Randy D Gascoyne, Steven Jones, Marco Marra, Janessa Laskin, Aly Karsan

Affiliations

  1. Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
  2. Centre for Lymphoid Cancer and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
  3. Terry Fox Laboratory and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada;
  4. Department of Medical Oncology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 4E6, Canada;
  5. Genome Sciences Centre and Department of Pathology, British Columbia Cancer Agency, Vancouver, British Columbia V5Z 1L3, Canada.

PMID: 27148583 PMCID: PMC4849852 DOI: 10.1101/mcs.a000679

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.

Keywords: increase in B cell number; lymphocytosis

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