Translational research in lymphomas and primary immunodeficiencies

Stefania Pittaluga, MD PhD Staff Clinician

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 signaling pathways as identified by gene expression profiling, RNA-seq, Chipseq, 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 of pathology.

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):311725)

Validation of GEP data in mediastinal gray zone lymphoma with emphasis on the microenvironment

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 in lymphoma, I contribute to the validation of new therapeutic targets and at the same time improve our diagnostic algorithms.

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.

Collaborators
Who 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