Pediatric Head and Neck Tumors Associated with Li-Fraumeni Syndrome.
Li-Fraumeni
cancer
genetic
head
neck
pediatric
predisposition
syndrome
Journal
The Annals of otology, rhinology, and laryngology
ISSN: 1943-572X
Titre abrégé: Ann Otol Rhinol Laryngol
Pays: United States
ID NLM: 0407300
Informations de publication
Date de publication:
10 May 2021
10 May 2021
Historique:
entrez:
11
5
2021
pubmed:
12
5
2021
medline:
12
5
2021
Statut:
aheadofprint
Résumé
Cancer predisposition syndromes are germline pathogenic variants in genes that greatly raise the risk of developing neoplastic diseases. One of the most well-known is Li-Fraumeni syndrome (LFS), which is due to pathogenic variants in the To examine head and neck manifestations of LFS in children treated at a tertiary children's hospital over a 20-year period. A retrospective review of LFS children with neoplastic disease presenting in traditional Otolaryngologic head and neck subsites from 2000 to 2019, with patient charts reviewed for relevant clinical, imaging, and operative data. Of the 40 LFS patients initially identified, 27 neoplastic tumors were identified in 20 children within this cohort (20 primary, 7 second primary). Head and neck subsites aside from the brain or orbit were involved in 22% (6/27) of these tumors, representing 20% (4/20) of primary tumors and 29% (2/7) of second primary tumors. Both second primaries within the head and neck were within the radiation fields of the first primary tumor. The mean ages at primary and second primary diagnosis were 4.6 years (SD 3.5) and 12 years (SD 1.4), respectively. The male/female ratio was 1:6 among all patients with head and neck tumors. All 6 head and neck tumors were sarcomas. Rhabdomyosarcoma ( This study identifies a high potential for head and neck involvement in children with LFS, which has not been previously described in the literature. Otolaryngological care should be included in a multidisciplinary care team surveilling these patients.
Identifiants
pubmed: 33971750
doi: 10.1177/00034894211014786
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM