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Here, we present two females with MFS who developed pediatric neuroblastoma. Patient 1 presented with neonatal MFS and developed an adrenal neuroblastoma with unfavorable tumor genetics at 10\u2009months of age. Whole genome sequencing revealed a germline <jats:italic>de novo<\/jats:italic> missense <jats:italic>FBN1<\/jats:italic> variant (NP_000129.3:p.(Asp1322Asn)), resulting in intron 32 inclusion and exon 32 retention. Patient 2 was diagnosed with classic MFS, caused by a germline <jats:italic>de novo<\/jats:italic> frameshift variant in <jats:italic>FBN1<\/jats:italic> (NP_000129.3:p.(Cys805Ter)). At 18\u2009years, she developed high\u2010risk neuroblastoma with a somatic <jats:italic>ALK<\/jats:italic> pathogenic variant (NP_004295.2:p.(Arg1275Gln)). We identified 32 reported cases of MFS with cancer in PubMed, yet none with neuroblastoma. Among patients, we observed an early cancer onset and high frequency of MFS complications. We also queried cancer databases for somatic <jats:italic>FBN1<\/jats:italic> variants, finding 49 alterations reported in PeCan, and variants in 2% of patients in cBioPortal. In conclusion, we report the first two patients with MFS and neuroblastoma and highlight an early age at cancer diagnosis in reported patients with MFS. Further epidemiological and functional studies are needed to clarify the growing evidence linking MFS and cancer.<\/jats:p>","DOI":"10.1002\/ajmg.a.63812","type":"journal-article","created":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T09:49:19Z","timestamp":1720691359000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0385-475X","authenticated-orcid":false,"given":"Carolina","family":"Maya\u2010Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Center for Molecular Medicine, Karolinska Institute  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica 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