Fishbein Lab

Dr. Fishbein is a physician scientist who has research and clinical interest in endocrine cancer genetics. The Fishbein laboratory focuses on neuroendocrine tumors including pheochromocytoma and paraganglioma. Pheochromocytomas and paragangliomas are rare yet unique tumors which have high morbidity due to over-secretion of adrenaline hormone leading to hypertension, heart disease and stroke. In addition, a significant fraction of the tumors also become metastatic; and unfortunately, there are limited treatment options for metastatic disease. One fascinating aspect of pheochromocytoma/paraganglioma is that there are over 12 well-defined germline susceptibility genes in a variety of different pathways in the cell which when mutated, predispose to a person getting a pheochromocytoma or paraganglioma as well as other associated tumor types. We do not fully understand why some people with pathogenic variants (or mutations) in these genes develop disease and others do not. And only some of these genes are associated with a higher risk of metastatic disease.

Furthermore, of the patients with metastatic disease, only half have a known germline pathogenic variant; the rest are sporadic. The Fishbein laboratory is interested in the interplay between the germline hereditary genetics and somatic genetics that leads to tumorigenesis and metastatic potential. The lab has several projects to answer these gaps in knowledge. Some are listed below.

Research Topics


1

Investigating somatic genetics

Our lab uses massively parallel sequencing (next gen sequencing) of human pheochromocytoma/paraganglioma specimens to identify biomarkers of tumorigenesis and malignant transformation with the goal of finding novel targets for therapeutic intervention. We are now investigating some potential biomarkers of clinically aggressive disease with in vitro functional molecular genetic and molecular biology studies. Some of these biomarkers may be relevant in other neuroendocrine tumors as well, which is an additional area of interest for the lab.
2

Understanding hereditary (germline) genetics

Our lab is interested in understanding penetrance of disease in susceptibility gene pathogenic variant carriers.
3

Clinical projects of interest include studies on neuroendocrine tumors and adrenal nodules and disorders

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