Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature.

Autor: Maya-González C; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden., Delgado-Vega AM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Lagerstedt Robinson K; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Hansson L; Department of Oncology, Sahlgrenska University Hospital, Gothenburg, Sweden., Pal N; Department of Pediatric Oncology, Astrid Lindgren Children's Hospital, Stockholm, Sweden., Fagman H; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden., Puls F; Department of Clinical Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden., Wessman S; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden., Stenman J; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden., Georgantzi K; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Fransson S; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Díaz De Ståhl T; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden., Ek T; Children Cancer Center, Queen Silvia Children's Hospital, Gothenburg, Sweden., Palmer R; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Tesi B; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine Huddinge, Karolinska Institutet, Stockholm, Sweden., Kogner P; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Martinsson T; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 11, pp. e63812. Date of Electronic Publication: 2024 Jul 11.
DOI: 10.1002/ajmg.a.63812
Abstrakt: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in FBN1, with a hitherto unknown association with cancer. 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 months of age. Whole genome sequencing revealed a germline de novo missense FBN1 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 de novo frameshift variant in FBN1 (NP_000129.3:p.(Cys805Ter)). At 18 years, she developed high-risk neuroblastoma with a somatic ALK 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 FBN1 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.
(© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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