Clinical benefit and radiological response with BRAF inhibitor in a patient with recurrent ameloblastoma harboring V600E mutation

Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature. We present a case of a 29-year-old woman diagnosed with an ameloblastoma o...

Full description

Saved in:
Bibliographic Details
Published in:BMC cancer 2018-09, Vol.18 (1), p.887-887, Article 887
Main Authors: Fernandes, Gustavo S, Girardi, Daniel M, Bernardes, João Paulo G, Fonseca, Felipe P, Fregnani, Eduardo R
Format: Article
Language:English
Subjects:
Adult
Alleles
Ameloblastoma
Ameloblastoma - diagnosis
Ameloblastoma - drug therapy
Ameloblastoma - genetics
Amino Acid Substitution
Biomarkers, Tumor
Biopsy
BRAF
Cancer
Care and treatment
Case Report
Diagnosis
Dosage and administration
Epithelial tumors
Female
Gene expression
Gene mutation
Genetic aspects
Hospitals
Humans
Immunohistochemistry
Jaw
Jaw Neoplasms - diagnosis
Jaw Neoplasms - drug therapy
Jaw Neoplasms - genetics
Kinases
Magnetic Resonance Imaging
Mandible
MAPK
Molecular Targeted Therapy
Morbidity
Mutation
Neoplasia
NMR
Nuclear magnetic resonance
Protein Kinase Inhibitors - administration & dosage
Protein Kinase Inhibitors - adverse effects
Protein Kinase Inhibitors - therapeutic use
Proto-Oncogene Proteins B-raf - genetics
Radiology
Rare diseases
Recurrence (Disease)
Sinuses
Surgery
Targeted therapy
Treatment Outcome
Tumors
Vemurafenib
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Ameloblastoma is a slow-growing neoplasm of the jaw, for which the standard treatment is surgical removal of the lesion with high recurrence rates and elevated morbidity. Systemic therapy is not established in the literature. We present a case of a 29-year-old woman diagnosed with an ameloblastoma of the left mandible who had been subjected to several surgical procedures over twenty years due to multiple local recurrences. Molecular testing revealed a BRAF V600E mutation, and vemurafenib was started. She experienced complete resolution of symptoms related to the disease, and image scans evidenced continuous shrinkage of the neoplastic lesion after eleven months of therapy. This is the first report showing clinical benefit and radiological response with vemrafenib for recurrent ameloblastoma. Targeted therapy addressing BRAF V600E mutation has the potential to change clinical practice of this rare disease.
ISSN:1471-2407
1471-2407
DOI:10.1186/s12885-018-4802-y