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Malignancies in Prader-Willi Syndrome: What New Research Reveals

Discover the latest research on malignancies in Prader-Willi Syndrome (PWS) and the importance of participating in national screening programs.

Many of the symptoms of Prader-Willi syndrome (PWS) are well known, including problems with the hypothalamus, low muscle tone, hyperphagia, behavioral issues, and the risk of obesity and related complications. However, as people with PWS are living longer due to early diagnosis and lifestyle interventions like weight management, what about the risk of age-related diseases, like cancer?

Malignancies in Prader-Willi Syndrome - What New Research RevealsNot much is known about the risk of cancer in adults with PWS due to issues around the diagnosis of older individuals, questionnaire-only-based studies, and low numbers of older participants. Therefore, a group of researchers in the INfoRMEd-PWS network (an international network of PWS experts) decided to answer this question, and the full results can be found in their scientific paper. They looked at data from 160 children and 546 adults in the Netherlands, the United Kingdom, France, Spain, Italy, and Australia. The researchers collected information from these participants, including past or current malignancies (another word for cancers), treatment with hormones (including growth hormone or sex steroids), risk factors for cancer (diabetes, family history, alcohol and smoking use, BMI), and other demographic characteristics.

These researchers found that in this population of 706 children and adults with PWS, less than one percent had been diagnosed with a malignancy (7 out of 706 in total, which included 4 adult males and three adult females). There was no relationship between the risk of cancer and gender, country, treatment with hormones (either growth hormone or sex steroids), weight, alcohol or tobacco use, family history of cancer, or type 2 diabetes. Among these seven people, the occurrence of malignancies did increase with age, and they all had different types of malignancies.

Overall, these researchers found that cancer diagnosis was very rare among this population, with only 7 out of 706 (0.99%) children and adults with PWS who were found to have a malignancy. These findings are consistent with data in the Global PWS Registry, where there were 9 total reports of cancer out of 1,146 respondents (0.79%). Furthermore, since all seven people in the ‘INfoRMED’ study had different types of malignancies, it doesn’t seem like people with PWS are at higher risk for a specific type of cancer. This finding is also confirmed by a group of researchers in Sweden who did not find a higher overall frequency of cancer in their PWS population versus the age-matched group of non-PWS individuals, and Global PWS Registry data that found that the only cancer that affected more than one person was skin cancer; all others were different types of malignancies.

Overall, the data from these studies and the Global PWS Registry are reassuring and do not suggest an increased cancer risk in persons with PWS compared to the general population. However, it is known that there is an increased risk of cancer associated with obesity, so the authors do recommend participation in national screening programs for breast and colon cancer in all adults with PWS.

FPWR Enewsletter

Topics: Research

Caroline Vrana-Diaz


Caroline Vrana-Diaz, Ph.D. is the Research Project Coordinator for the Foundation for Prader-Willi Research. She received a B.S. in Biology from Davidson College in 2014 and a Ph.D. in Epidemiology from the Medical University of South Carolina (MUSC) in 2019. Caroline joined FPWR in May of 2019, and in this role, she works with the PWS Clinical Network Site database, FPWR’s grant portfolio, and analyzes data and creates research manuscripts for FPWR projects.