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

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 adrena...

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Veröffentlicht in:	American journal of medical genetics. Part A 2024-12, Vol.194 (12), p.e63812-n/a
Hauptverfasser:	Maya‐González, Carolina, Delgado‐Vega, Angelica Maria, Taylan, Fulya, Lagerstedt Robinson, Kristina, Hansson, Lina, Pal, Niklas, Fagman, Henrik, Puls, Florian, Wessman, Sandra, Stenman, Jakob, Georgantzi, Kleopatra, Fransson, Susanne, Díaz De Ståhl, Teresita, Ek, Torben, Palmer, Ruth, Tesi, Bianca, Kogner, Per, Martinsson, Tommy, Nordgren, Ann
Format:	Artikel
Sprache:	eng
Schlagworte:	Adipokines Adolescent Anaplastic Lymphoma Kinase - genetics Cancer Cancer and Oncology Cancer och onkologi cancer predisposition Connective tissue diseases Epidemiology FBN1 Female Fibrillin-1 - genetics Germ-Line Mutation - genetics Hereditary diseases Humans Infant Literature reviews Marfan syndrome Marfan syndrome (MFS) Marfan Syndrome - complications Marfan Syndrome - genetics Marfan Syndrome - pathology Neonates Neuroblastoma Neuroblastoma - complications Neuroblastoma - epidemiology Neuroblastoma - genetics Neuroblastoma - pathology Patients Pediatrics Whole genome sequencing
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