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    Translational research in lymphomas

    and primary immunodeficiencies

    Stefania Pittaluga, MD PhD

    Staff Clinician

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    Primary Research Area(s) What are your expertise?

    Lymphoid system, lymphomas and primary immunodeficiencies

    Molecular biology techniques, in situ hybridization and

    immunohistochemistry

    What technologies / approaches / methodologies do you utilize in your

    research area?

    Use of immunohistochemistry to validate genes involved in signalingpathways as identified by gene expression profiling, RNA-seq, Chip-

    seq, WGS, WES, mutation analysis and targeted sequencing.

    These techniques are widely available in the laboratories of many

    collaborators and the data are shared and discussed frequently.

    Some of these techniques are also available in the laboratory ofpathology.

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    Research topics

    Histologic and phenotypic features of newly

    defined primary immunodeficiencies

    germ line mutations involving CARD-11 (J Exp Med.2012 Nov 19;209(12):2247-61)

    loss of function PKC-delta (Blood. 2013 18;121(16):3117-25)

    Validation of GEP data in mediastinal gray

    zone lymphoma with emphasis on the

    microenvironment

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    Research Implications How does your research fit in the broader context?

    How does it fit into LP and broader areas?

    How does your research translates into potential clinical

    applications?

    Collaborative research with physician/scientist from NCI and NIH, in

    a supportive and critical role.

    The study of primary immunodeficiencies with the current

    technologies offers greater possibilities to identify the underlying

    genetic alterations and to characterize the histological and

    phenotypic features.

    Based on a close collaboration with basic and clinical teams inlymphoma, I contribute to the validation of new therapeutic targets

    and at the same time improve our diagnostic algorithms.

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    Future Direction Where do you see your research going in the next 5-10 years?

    What are the current challenges & obstacles?(identify barriers and limitations beyond time, money, people, travel, and space)

    Continue to work with my colleagues within LP, NCI and the greater

    NIH.

    The current challenge is represented by the necessity to rely on

    research groups outside LP that are able to provide the expertise

    needed to conduct clinical research today. In order to be effective,

    large number of people with specific expertise are needed to make

    sense of the wealth of data generated in any specific area.

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    CollaboratorsWho do you consider your primary collaborators & partnerships?

    Within LP: Dr. Jaffe and Dr. Raffeld

    Close Partnership with the Faculty of the

    Hematopathology fellowship program (within LP and

    DLM)

    Outside LP main collaborators:

    NCI, Dr. Wilson, Dr. Staudt, Dr. Waldmann, Dr.

    Yarchoan

    NHLBI Dr. Wiestner, Dr. Dunbar

    NIAID Dr. Holland, Dr. Cohen, Dr. Uzel, Dr. Lenardo

    and others