The primary mission of the Molecular Hematopathology Laboratory at NewYork-Presbyterian/Weill Cornell Medical Center is to provide the best clinical molecular diagnostic services for the clinicians and pathologists providing care to patients with hematologic malignancies. For many years, this laboratory has been developing and performing molecular-based tests to aid in the diagnosis and management of hematologic cancers, and has worked closely with hematopathologists in the Division of Hematopathology and clinical hematologists in the Department of Medicine to provide excellent patient care. The laboratory is directed by Wayne Tam, MD, PhD, with three other attending pathologists and six staff members (PhD associates and laboratory technologists). The laboratory is CLIA-certified and accredited by the College of American Pathologists.
Approximately 1,700 tests are performed in the Molecular Hematopathology Laboratory each year. At present, the test menu includes:
- Quantitative BCR-ABL assay, for the clinical monitoring and evaluation of treatment response in patients with chronic myelogenous leukemia
- JAK2 V617F mutation detection by ARMS (Amplification-Refractory Mutation System), for the diagnosis of myeloproliferative neoplasms
- PML-RARA detection by reverse-transcriptase PCR, for diagnosis and minimal residual disease detection in patients with acute promyelocytic leukemia
- B- and T-cell clonality analysis by immunoglobulin heavy and kappa light chain (IGH and IGK) gene rearrangements, for the molecular analysis of lymphoproliferative disorders
- BCL2 rearrangement detection by PCR, for lymphoma diagnosis and subtyping and residual disease detection
- PCR detection of Epstein-Barr virus, human herpes virus-8, and human T-lymphotropic virus type I, for the diagnosis of virus-related lymphomas
The Molecular Hematopathology Laboratory is currently expanding its test menu. Its molecular hematopathologists are working on standardization of its quantitative BCR-ABL testing on the International Scale, which standardizes quantitative BCR-ABL1 measurements across tests and laboratories and harmonizes definition of treatment response, allowing meaningful and easy interpretation of test results. The laboratory is also on the verge of employing next-generation sequencing for gene mutational profiling to assess prognostic factors in leukemias and lymphomas.
In addition, the Molecular Hematopathology Laboratory is the site for several translational research projects in hematologic malignancies — including tumor suppressors, microRNAs, oncogenic viruses, targeted drug therapy, biomarker development, and clonal evolution — and has actively contributed to peer-reviewed publications. The attending pathologists and staff members in the laboratory also educate pathology residents and fellows through laboratory rotations and meetings, a journal club, and interdisciplinary conferences.