Division of Molecular & Genomic Pathology

The Division of Molecular & Genomic Pathology (MGP) and MGP laboratory combine more than two decades of academic experience and leadership in molecular diagnostics to deliver the most advanced genetic and genomic testing and offer vast educational opportunities in molecular pathology. Our clinical focus is on performing and interpreting complex genetic tests in the areas of solid tumors, hematologic malignancies, and genetics. Adopting and advancing the most innovative genomic technologies and working closely with the oncology and other clinical groups, our mission is to provide the most advanced laboratory support for the progress in personalized medicine at the University of Pittsburgh Medical Center and, through versatile consultation services, at other health care centers.

The current MGP Division and laboratory were formed in March 2013 by merging into one program the previously existing Molecular Anatomic Pathology and Molecular Diagnostics programs at the Department of Pathology, University of Pittsburgh Medical Center. By integrating the resources and experience of the two nationally recognized molecular pathology programs, we are committed to providing the highest standards of education and clinical service for our physicians and patients. The MGP Division and laboratory occupy the 7th and 8th floors of the recently renovated Clinical Laboratory Building, with state-of-art facilities for training and clinical laboratory work. To obtain more information about the missions of the Division, please follow these links:

Faculty

Clinical Services

The Molecular and Genomic Pathology Laboratory is accredited by the College of American Pathologists (CAP) and CLIA, and currently conducts over 12,000 tests annually. We are committed to developing and offering state of the art diagnostic and prognostic molecular and genomic assays to provide the highest quality of patient care in the fields of inherited diseases, hematological malignancies, and solid tumors utilizing cutting edge molecular testing platforms and informatics approaches exemplified by next-generation sequencing.

Our solid tumor testing provides a personalized molecular profile for individualized therapy, diagnosis and prognosis for patients with tumors including thyroid cancer, brain tumors, lung cancer, colorectal cancer, melanoma, parathyroid tumors, hepatocellular carcinoma, appendiceal tumors, and pancreatic cysts. An expanded cancer panel is also offered for most solid tumors and includes 50 genes tested by next-generation sequencing technology. In addition, in cases of a patient with two tumors, we offer LOH testing to determine whether these tumors represent two primary tumors or metastatic disease.

In the field of hematological malignancies, we offer testing that can provide diagnostic information such as testing for B and T cell clonality, testing for the presence of BCR/ABL and PML/RARa rearrangements, and testing for the JAK2 V617F mutation. In addition, tests with prognostic implications including FLT3 mutation analysis, NPM1 mutation analysis, and IgH somatic hypermutation status, are also available in our laboratory.

Genetic tests are offered for inherited mutations involved in RETT, Multiple endocrine neoplasia (MEN2A/2B), and von Hippel-Lindau (VHL) syndromes; genetic testing for disorders such as hypercoagulability, hereditary hemochromatosis, pancreatitis, and malignant hyperthermia; genetic testing to identify expansions of trinucleotide repeats in Huntington, Fragile X, and Kennedy disease; and genetic testing for genes implicated in neurological/mitochondrial diseases such as Spinal Muscular Atrophy (SMA), MELAS/MERRF/NARF, and POLG-mutation associated disorders.

Teaching and Training Opportunities

The Division of Molecular & Genomic Pathology offers a variety of educational opportunities to pathology residents and fellows as well as graduate and medical students to learn about the current practice of Personalized Medicine. Trainees are taught the principles of modern clinical molecular pathology as they relate to the identification and interpretation of molecular alterations underlying neoplastic and non-neoplastic diseases. Participation in research projects in a variety of molecular diagnostics including next-generation sequencing is offered. For additional information on training rotations, electives or courses in molecular pathology and Personalized Medicine offered by the M&GP Division and its faculty, please click here.

Research

Dr. Chiosea's research is focused on understanding the genetic mechanisms of head and neck cancer, particularly in salivary duct carcinoma and human papillomavirus-associated squamous cell carcinomas, and detection of copy number variation of cancer-associated genes by next generation sequencing techniques.

Dr. DeFrances' research is focused on unraveling the contribution of the PI3K pathway to normal liver physiology and hepatocarcinogenesis.

Dr. Locker's research is funded by the NCI and the NIDDK and focused on the gene control mechanisms that promote liver cancer and cirrhosis.

Dr. Lucas' research laboratory is funded by the NIH and studies the mechanistic links between inflammatory signal transduction (NF-kB activation in particular) and the development of both vascular and neoplastic diseases.

Dr. Luo's lab is funded by the NIH and interested in identifying new tumor suppressor genes, oncogenes and tumor markers in prostate cancer and hepatocellular carcinoma using high throughput and comprehensive analyses.

Dr. Nikiforova's research interests involve genetics of thyroid and brain tumors and developing novel diagnostic laboratory tools based on next-generation sequencing and other genome-wide screenings.

Dr. Nikiforov's research is funded by the NIH and focused on understanding the genetic mechanisms of thyroid cancers and carcinogenesis induced by ionizing radiation.

Dr. Oltvai's research is focused on understanding the system level organization of cell metabolism in prokaryotic and mammalian cells.

Dr. Oury's research is focused on the mechanisms in which the receptor for advanced glycation endproducts promotes recruitment and activation of innate immune cells in asthma and pulmonary fibrosis.

Dr. Roy's research is focused on understanding mechanisms of urothelial carcinogenesis and metastasis using next generation sequencing and microarray technologies and development of biomedical informatics solutions for optimizing clinical laboratory operations and quality management.