Overall cancer risk in Gaucher similar to that of general population
Study: Incidence of certain blood cancers was much higher in those with disease

People with Gaucher disease are not at a higher risk of developing cancer, but their risk of blood cancers is higher than in the general population, according to a new analysis.
“We demonstrated that patients with GD [Gaucher disease] do not have an increased overall risk of developing cancer. However, we did observe a higher risk for [blood] cancers,” researchers wrote in the study, “A large long-term database of Gaucher disease patients demonstrates increased risk of lymphoma and myeloma, but not of solid tumours,” which was published in the Internal Medicine Journal.
Research mixed on whether Gaucher carries increased cancer risk
Gaucher disease is a genetic disorder that can cause a wide spectrum of symptoms, including changes in blood cell levels, enlarged organs, and bone problems. Some studies have suggested that people with Gaucher disease are at increased risk of cancer relative to the general population, but other research has disputed those findings.
Using data collected between 1990 and 2023, scientists in Israel evaluated the rate of cancers among 709 people with Gaucher disease and compared those rates to the general population.
“We report the cancer risk in a large, single-centre database of patients with GD over three decades and identify risk factors associated with cancer occurrence,” the scientists wrote.
Over the course of follow-up, 9% of the Gaucher patients were diagnosed with cancer. The most common were breast cancer, non-Hodgkin lymphoma, and color cancer.
The median age at cancer diagnosis was 48.5 years, and about one-third of the cases were diagnosed either before or within six months after the first visit for Gaucher disease.
Non-Hodgkin lymphoma occurred more than twice as much in Gaucher group
In general, the rate of cancers in people with Gaucher was comparable to the general Israeli population, though it tended to increase over time.
However, the incidence of certain blood cancers was significantly higher in Gaucher patients. For example, non-Hodgkin lymphoma occurred more than two times as much in the Gaucher group, while myeloma was six times more common than in the general population.
These scientists had published a similar analysis in 2005 that found the same results. This new study, which includes data on more than 200 additional patients, as well as longer follow-up times, “reinforces the conclusion that the overall cancer risk in patients with [Gaucher disease] treated at [the center] is comparable to that of the general population of the same ethnicity and country,” they wrote.
Based on the findings, the researchers said that care for Gaucher disease should include at least annual screening for blood cancer, as well as all the cancer screenings that are recommended for people in the general population.
The team hopes their study will help to alleviate anxiety in people who are newly diagnosed with Gaucher disease and may be concerned about the risk of future health problems.