Real-time tests of multiple genome alterations take the first steps into the clinic: a learning example.
Molecular characterization is increasingly changing clinical practice, in both diagnosis and treatment. BRAF is a proto-oncogene that is mutated in ~2%-4% of lung cancers, but the incidence rises to 40%-45% among papillary thyroid cancers. Furthermore, BRAF is a promising target in lung cancer treatment. The present case study covers both the challenges of molecular differential diagnosis and the perspectives opened by targeted therapy by discussing the history of a 78-year-old female affected by a papillary histotype carcinoma with BRAF mutation associated with both thyroid and lung localizations. A differential diagnosis was possible as a consequence of a multidisciplinary approach including an in-depth molecular characterization. Based on this molecular feature, the patient was successfully treated with the BRAF inhibitor dabrafenib after the failure of treatment with standard regimen. To the best of our knowledge, this is the first published case of non-small-cell lung cancer with metastasis to thyroid and with BRAF V600E mutation.
Department of Oncology, University Hospital of Udine; Department of Medical and Biological Sciences, University of Udine.
Lorenzo
L
Gerratana
Department of Pathology, University Hospital of Udine, Udine, Italy.
Giovanna
G
De Maglio
Department of Pathology, University Hospital of Udine, Udine, Italy.
Alessandro
A
De Pellegrin
Department of Oncology, University Hospital of Udine.
Alessandro
A
Follador
Department of Oncology, University Hospital of Udine; Department of Medical and Biological Sciences, University of Udine.
Karim
K
Rihawi
Department of Pathology, University Hospital of Udine, Udine, Italy.
Stefano
S
Pizzolitto
Department of Oncology, University Hospital of Udine; Department of Medical and Biological Sciences, University of Udine.
Fabio
F
Puglisi
Department of Oncology, University Hospital of Udine.
Gianpiero
G
Fasola
BRAF mutation; molecular diagnosis; target therapy