ID
45330
Description
Principal Investigator: Laura Pasqualucci, MD, Institute for Cancer Genetics, Columbia University, New York, NY, USA MeSH: Lymphoma, Non-Hodgkin,Lymphoma, B-Cell https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000502 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.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000502
Keywords
Versions (2)
- 10/31/22 10/31/22 - Tabea Kampen
- 12/13/22 12/13/22 - Kristina Keller
Copyright Holder
Laura Pasqualucci, MD, Institute for Cancer Genetics, Columbia University, New York, NY, USA
Uploaded on
October 31, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000502 Genome-Wide Analysis of Splenic Marginal Zone Lymphoma
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with splenic marginal zone lymphoma and involved in the "Genome-Wide Analysis of Splenic Marginal Zone Lymphoma" project.
- Sample ID, subject ID and sample use variables obtained from participants with splenic marginal zone lymphoma and involved in the "Genome-Wide Analysis of Splenic Marginal Zone Lymphoma" project.
- Sample ID, analyte type, tumor status, body site where sample was collected, and histological diagnosis of tumors obtained from participants with splenic marginal zone lymphoma and involved in the "Genome-Wide Analysis of Splenic Marginal Zone Lymphoma" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with splenic marginal zone lymphoma and involved in the "Genome-Wide Analysis of Splenic Marginal Zone Lymphoma" project.
- Sample ID, subject ID and sample use variables obtained from participants with splenic marginal zone lymphoma and involved in the "Genome-Wide Analysis of Splenic Marginal Zone Lymphoma" project.
- Sample ID, analyte type, tumor status, body site where sample was collected, and histological diagnosis of tumors obtained from participants with splenic marginal zone lymphoma and involved in the "Genome-Wide Analysis of Splenic Marginal Zone Lymphoma" project.
C0332155 (UMLS CUI [1,2])
C1515568 (UMLS CUI [1,3])
C0349632 (UMLS CUI [1,4])
C0150103 (UMLS CUI [1,2])
C0205307 (UMLS CUI [2,1])
C0017428 (UMLS CUI [2,2])
C0012854 (UMLS CUI [2,3])
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