Journal Article (Review Article)

DKFZ-2024-02221

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.

Perrino, M. R. ; Das, A. ; Scollon, S. R. ; Mitchell, S. G. ; Greer, M. C. ; Yohe, M. E. ; Hansford, J. R. ; Kalish, J. M. ; Schultz, K. A. P. ; MacFarland, S. P. ; Kohlmann, W. K. ; Lupo, P. J. ; Maxwell, K. N. ; Pfister, S.DKFZ* ; Weksberg, R. ; Michaeli, O. ; Jongmans, M. C. J. ; Tomlinson, G. E. ; Brzezinski, J. ; Tabori, U. ; Ney, G. M. ; Gripp, K. W. ; Gross, A. M. ; Widemann, B. C. ; Stewart, D. R. ; Woodward, E. R. ; Kratz, C. P.

2024
AACR Philadelphia, Pa. [u.a.]

This record in other databases:  

Please use a persistent id in citations: doi:10.1158/1078-0432.CCR-24-1611

Abstract: Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes, grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and demonstrate varied multisystemic clinical phenotypes. Together, RASopathies are among the more prevalent genetic cancer predisposition syndromes and require nuanced clinical management. When compared with the general population, children with RASopathies are at significantly increased risk of benign and malignant neoplasms. In the past decade, clinical trials have shown that targeted therapies can improve outcomes for low-grade and benign neoplastic lesions but have their own challenges, highlighting the multidisciplinary care needed for such individuals, specifically those with NF1. This perspective, which originated from the 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop, serves to update pediatric oncologists, neurologists, geneticists, counselors, and other health care professionals on revised diagnostic criteria, review previously published surveillance guidelines, and harmonize updated surveillance recommendations for patients with NF1 or RASopathies.

Keyword(s): Humans (MeSH) ; Noonan Syndrome: genetics (MeSH) ; Noonan Syndrome: diagnosis (MeSH) ; Noonan Syndrome: epidemiology (MeSH) ; Neurofibromatosis 1: genetics (MeSH) ; Neurofibromatosis 1: diagnosis (MeSH) ; Neurofibromatosis 1: complications (MeSH) ; Neurofibromatosis 1: therapy (MeSH) ; Costello Syndrome: genetics (MeSH) ; Costello Syndrome: diagnosis (MeSH) ; Costello Syndrome: therapy (MeSH) ; Child (MeSH) ; Neoplasms: genetics (MeSH) ; Neoplasms: diagnosis (MeSH) ; Neoplasms: epidemiology (MeSH) ; Neoplasms: etiology (MeSH) ; Genetic Predisposition to Disease (MeSH) ; ras Proteins: genetics (MeSH) ; ras Proteins

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK HD zentral (HD01)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2024

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Essential Science Indicators ; IF >= 10 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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