Pediatric endocrinology

Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review

J Clin Endocrinol MetabPublished Retrospective cohort study and literature review

Authors' conclusion

Malignancies are rare in patients with PWS. Therefore, screening for malignancies is only indicated when clinically relevant symptoms are present, such as unexplained weight loss, loss of appetite, symptoms suggestive of paraneoplastic syndrome, or localizing symptoms. Given the increased cancer risk associated with obesity, which is common in PWS, participation in national screening programs should be encouraged.

Study context

Population
Patients with Prader-Willi syndrome (160 children, 546 adults)160 children · 546 adults
Participants
706 patients
Outcome
Prevalence and risk factors of malignancies
Methodological detailsinternational
  • International

Main finding

As reported in the abstract

Malignancy
Adults diagnosed with a malignancy (age range 18-55 years): ALL, intracranial hemangiopericytoma, melanoma, stomach adenocarcinoma, biliary cancer, parotid adenocarcinoma, colon cancer
7

Observational data: associations, not effects.

Further findings

Literature review

Several genes on chromosome 15q11.2-q13 are related to malignancies

Original publication

Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review. J Clin Endocrinol Metab. Published 2 June 2023. doi:10.1210/clinem/dgad312

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