Background
In 2006, the Pennsylvania Department of Health (PADOH) asked the Agency for Toxic Substances and Disease Registry’s (ATSDR) to help investigate a higher than expected number of PV cases in Carbon, Luzerne, and Schuylkill counties (called the tri-county area). More specifically, they wanted ATSDR to make sure that the reported cases actually had PV and to find any other cases of PV in the tri-county area.
ATSDR enrolled people with PV in the Pennsylvania Cancer Registry (i.e., they enrolled reported cases as well as patients who self-identified as having PV). ATSDR reviewed medical records and conducted genetic testing for the JAK2V617F mutation to confirm the PV diagnosis. Additionally, ATSDR conducted a survey of the possible cases to collect information on work and residence histories, health status, and other factors that might be related to PV.
ATSDR confirmed the presence of a cluster of PV at the center of the tri-county area.
Myeloproliferative neoplasms (MPN) are a group of blood cancers where the bone marrow makes too many blood cells. PV and other blood disorders, such as essential thrombocytosis (ET) and primary myelofibrosis (PMF), are classified as MPNs.
PV has no known cause, and there are very few studies that look at what factors put someone at risk for developing PV.
In 2005, researchers identified a genetic mutation in most PV patients. About 97% of PV patients have this mutation (JAK2V617F), and the test for the mutation is included in the guidelines for doctors to diagnose PV. The JAK2V617F mutation is also found in approximately 50% of ET and PMF patients and is included in the diagnosis guidelines for these diseases.
In 2009, Congress funded ATSDR to continue this investigation. ATSDR is currently overseeing 17 projects with PADOH, the Pennsylvania Department of Environmental Protection, and various universities and private organizations. These projects were based on recommendations from an expert panel which identified four areas for investigation: epidemiology, genetics, toxicology, and environmental studies.
Background documents:
- Article: A Multidisciplinary Investigation of a Polycythemia Vera Cancer Cluster of Unknown Origin [PDF – 209 KB]
- Article: Use of Molecular Testing to Identify a Cluster of Patients with Polycythemia Vera in Eastern Pennsylvania [PDF – 363 KB]
- Fact sheet: Polycythemia Vera Research in Pennsylvania—Schuylkill, Luzerne, and Carbon Counties [PDF – 150 KB]