Pediatric uveal neoplasms
2024-12-05 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Classification
Definition
Patients with NF1 OMIM:162200 are predisposed to the development of uveal lesions e.g. choroidal nodules, ganglioneuromas and Lisch nodules (iris hamartomas), mainly with both truncating and non-truncation NF1 mutations. 1,2 These mutations are distinct from the mutations found in uveal melanoma (UM), affecting genes such as EIF1AX, SF3B1 and BAP1.3
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 35119474 | 2022 | Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1. | Flores Pimentel M et al |
| 2 | 38607446 | 2024 | Histologic correlates of "Choroidal abnormalities" in Neurofibromatosis type 1 (NF1). | Stemmer-Rachamimov AO et al |
| 3 | 33173970 | 2020 | Update on uveal melanoma: Translational research from biology to clinical practice (Review). | Ortega MA et al |
Citation
Paola Dal Cin, PhD
Pediatric uveal neoplasms
Atlas Genet Cytogenet Oncol Haematol. 2024-12-05
Online version: http://atlasgeneticsoncology.org/solid-tumor/209299/pediatric-uveal-neoplasms
