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Occurrence of cance...
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
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Maya-Gonzalez, Carolina (author)
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Delgado-Vega, Angelica Maria (author)
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- Taylan, Fulya (author)
- Karolinska Institutet
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Robinson, Kristina Lagerstedt (author)
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- Hansson, Lina (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för onkologi,Institute of Clinical Sciences, Department of Oncology
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Pal, Niklas (author)
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Fagman, Henrik (author)
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Puls, Florian (author)
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Wessman, Sandra (author)
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Stenman, Jakob (author)
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Georgantzi, Kleopatra (author)
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Fransson, Susanne (author)
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De Stahl, Teresita Diaz (author)
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Ek, Torben (author)
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- Palmer, Ruth H., 1970 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk kemi och cellbiologi,Institute of Biomedicine, Department of Medical Biochemistry and Cell Biology
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Tesi, Bianca (author)
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Kogner, Per (author)
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- Martinsson, Tommy, 1956 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine
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- Nordgren, Ann, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine
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(creator_code:org_t)
- 2024
- 2024
- English.
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In: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. - 1552-4825 .- 1552-4833.
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- cancer predisposition
- FBN1
- Marfan syndrome (MFS)
- neuroblastoma
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Maya-Gonzalez, C ...
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Delgado-Vega, An ...
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Taylan, Fulya
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Robinson, Kristi ...
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Hansson, Lina
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Pal, Niklas
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show more...
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Fagman, Henrik
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Puls, Florian
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Wessman, Sandra
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Stenman, Jakob
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Georgantzi, Kleo ...
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Fransson, Susann ...
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De Stahl, Teresi ...
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Ek, Torben
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Palmer, Ruth H., ...
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Tesi, Bianca
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Kogner, Per
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Martinsson, Tomm ...
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Nordgren, Ann, 1 ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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AMERICAN JOURNAL ...
- By the university
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University of Gothenburg
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Karolinska Institutet