What question did this study set out to answer?

To identify molecularly deregulated pathways and cancer gene lesions in nodal marginal zone lymphoma (NMZL) and compare its genomic profile with splenic marginal zone lymphoma (SMZL).

June 23, 2016BloodOpen Access

The genetics of nodal marginal zone lymphoma

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Authors

VSValeria SpinaEnte Ospedaliero Cantonale HKHossein KhiabanianRutgers, The State University of New Jersey MMMonica MessinaFondazione Gimema Onlus

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Implication

Genomic profiling reveals recurrent PTPRD mutations and deregulated cell-cycle pathways in nodal marginal zone lymphoma, indicating its molecular distinction from splenic marginal zone lymphoma.

Key Points

To identify molecularly deregulated pathways and cancer gene lesions in nodal marginal zone lymphoma (NMZL) and compare its genomic profile with splenic marginal zone lymphoma (SMZL).
Analyzed 35 NMZL patients using whole-exome sequencing, targeted sequencing of cancer genes, whole-transcriptome sequencing, and high-resolution SNP arrays.
Characterized functional consequences of recurring lesions and contrasted mutational patterns against SMZL and other mature B-cell malignancies.
Identified 41 genes recurrently altered in ≥3 (9%) of 35 cases, characterized by prevalent mutations in MLL2 (34%), PTPRD (20%), NOTCH2 (20%), and KLF2 (17%).
Demonstrated that PTPRD mutations lead to loss of phosphatase activity, cell-cycle deregulation, and higher proliferation in NMZL, while remaining absent in SMZL.

Cite This Study

Spina et al. (2016) studied this question.

synapsesocial.com/papers/6a1ec41fbf2a5d44faaf4b07 https://doi.org/10.1182/blood-2016-02-696757

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Implication

Genomic profiling reveals recurrent PTPRD mutations and deregulated cell-cycle pathways in nodal marginal zone lymphoma, indicating its molecular distinction from splenic marginal zone lymphoma.

The genetics of nodal marginal zone lymphoma

Discussion

Member takes

Implication

Key Points

Cite This Study

The genetics of nodal marginal zone lymphoma

Discussion

Member takes

Implication

Key Points

Cite This Study

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