Occupational and Chemical Exposure that may cause MPNs, Along with Familial Clustering

Some Jobs and Familial Clustering are Likely Suspects in Possibly developing an MPN

by David Wallace

dangerous occupations may cause MPNsThe daily exposure to toxic chemicals over the span of a career may be a strong factor in leading numerous workers to develop an MPN.  Certain chemicals we know are problematic, include Benzene and Toluene, as well as radiation.  Agent Orange is a likely suspect, if you served our country in Vietnam.  I am in contact with quite a few MPN patients who live downstream from factories that have been fined millions of dollars for dumping hazardous chemicals into rivers and streams that eventually pollutes our groundwater, which are major sources of drinking water.

It is the writer’s strong belief that contaminated drinking water MAY also be a cause for developing an MPN.  Read this article on contaminated water at Camp Lejeune causing adult leukemia/MDS….among many other serious illnesses.

While the drinking water is environmental, I find it related to occupational hazards for this reason.  Whatever occupation you choose, that becomes your working environment for generally 40 hours per week.

High Risk Occupations include the following:

  • Commercial pressmen
  • Petroleum refinery workers
  • Funeral service workers
  • Rural sector jobs
  • Agricultural workers
  • Poultry workers
  • Shoemakers & electrical device workers
  • Cooks/waiters
  • Hairdressers
  • Nurses
  • Farmers
  • Electricians
  • Photographers

Familial Clustering of MPN Cases

And now we examine the latest research on Familial MPN risk – The myeloproliferative neoplasms (MPN) and myelodysplastic syndrome (MDS) are usually sporadic diseases, however, familial cases are well-described.

Approximately 10% of MPN cases display familial clustering and there is a 5 – 7 fold increased risk of developing an MPN among first degree relatives of MPN patients

MPNs Familial clusteringWhile familial MDS appears to be less common, identification of multiple predisposition genes has led to the incorporation of this entity into the most recent WHO classification of myeloid neoplasms.  Identification of predisposing germline mutations in the myeloid malignancies has led to a better understanding of the pathophysiology of these diseases and improved clinical care. However, many familial MDS and MPN cases exist in which the inherited genetic lesion is unknown.  Our recent investigation of a multigenerational family with inherited MDS/AML marked by erythroid hyperplasia identified a missense variant in ERBB3 that co-segregated with the disease phenotype. In this study, we investigated a kindred with an autosomal dominant familial cancer syndrome characterized by both MPN and solid tumor malignancies.

Conclusions:  We have identified germline ERBB2 variants that co-segregate with disease in two kindreds with familial cancer syndromes manifesting as a mixed MPN and solid tumor phenotype. In addition, we show that germline ERBB2 and ERBB3 variants are present in patients with hematologic malignancies at a higher incidence than expected in the general population, and ERBB2 variants are associated with an MPN phenotype.  Together, these data implicate these genes in the predisposition to myeloid malignancy as well as other familial cancer syndromes.

Read the ASH 2017 abstract here for further details.

By and large we see the impact of Occupational, Environmental and Familial factors involved in Myeloproliferative Neoplasms (MPNs).


About David Wallace

Founder of PV Reporter, a resource for Myeloproliferative Neoplasm (MPN) patients and caregivers. After being diagnosed with Polycythemia Vera (PV) in 2009, I utilized social media to connect with "informed patients" and develop a better understanding of emerging treatment options. My philosophy on patient care is straight forward - "educating the patient is essential, so the patient can guide their physician to meet his or her needs." PV Reporter is a comprehensive resource hub giving visitors vital tools to become "empowered patients."

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