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Study Description

Splenic Marginal Zone Lymphoma (SMZL) is a B-cell malignancy of unknown pathogenesis and thus orphan of targeted therapies. By integrating whole-exome sequencing and copy-number analysis of 8 paired tumor-normal DNAs from patients with SMZL, we show that the typical SMZL exome carries ~30 genetic alterations. Targeted resequencing of selected candidates in an extended panel of 40-117 samples revealed activating mutations of NOTCH2, a gene required for marginal-zone (MZ) development, as the most frequent and SMZL-specific lesion, accounting for approximately 20% of cases. Additional altered genes suggest that deregulation of signaling pathways normally involved in MZ development (NOTCH, NF-kappa B, and B-cell receptor) represents a critical event in SMZL pathogenesis. These findings have direct implications for the treatment of SMZL patients since drugs are available which can target NOTCH as well as other pathways deregulated in this disease.

  • Study Weblink: Institute for Cancer Genetics
  • Study Type: Case-Control
  • Number of study subjects that have individual level data available through Authorized Access: 8

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

  1. Previously untreated, de novo diagnoses of Splenic Marginal Zone Lymphoma
  2. Matched tumor and normal genomic DNA

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Whole Exome Sequencing Illumina HiSeq 2000 N/A N/A
Whole Exome Sequencing Agilent SureSelect Human All Exon 50Mb Target Enrichment Kit N/A N/A
Selected publications
Diseases Related to Study (MESH terms)
Links to Other NCBI Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigators
    • Laura Pasqualucci, MD. Institute for Cancer Genetics, Columbia University, New York, NY, USA
    • Riccardo Dalla-Favera, MD. Institute for Cancer Genetics, Columbia University, New York, NY, USA
  • Funding Source
    • PO1-CA092625. National Institutes of Health, Bethesda, MD, USA