Role of endobronchial ultrasound in diagnosis and molecular assessment of metastatic melanoma
Article first published online: 29 JUL 2012
© 2012 The Authors. Respirology © 2012 Asian Pacific Society of Respirology
Volume 17, Issue 6, pages 991–996, August 2012
How to Cite
JENNINGS, B. R., MILLWARD, M. J., AMANUEL, B., MULRENNAN, S., JOOSTEN, S. A. and PHILLIPS, M. J. (2012), Role of endobronchial ultrasound in diagnosis and molecular assessment of metastatic melanoma. Respirology, 17: 991–996. doi: 10.1111/j.1440-1843.2012.02203.x
- Issue published online: 29 JUL 2012
- Article first published online: 29 JUL 2012
- Accepted manuscript online: 22 MAY 2012 11:21PM EST
- Received 22 September 2011; invited to revise 9 November 2011; revised 18 January 2012; accepted 15 March 2012 (Associate Editor: David Feller-Kopman).
- bronchoscopy and interventional technique;
- lung cancer;
- molecular biology
Background and objective: Vemurafenib is a new inhibitor of the mutated BRAF oncogene. In the presence of mutated BRAF in metastatic melanoma, treatment with vemurafenib leads to a reduction in mortality and in tumour progression when compared with chemotherapy. This study describes nine cases in which endobronchial ultrasound (EBUS) guided transbronchial needle aspiration (TBNA) was used to assess mediastinal and hilar lymph nodes for the presence of metastatic melanoma and demonstrates the ability to detect mutations in BRAF on the tissue obtained.
Methods: A retrospective review was performed of all patients who had a history of melanoma and underwent EBUS TBNA to investigate hilar or mediastinal lymphadenopathy for the presence of metastatic melanoma.
Results: In seven of the nine cases, metastatic melanoma was confirmed on cytology. The two negative cases were proven to be true negatives by follow up or by demonstrating an alternate diagnosis. In five cases, analysis for BRAF mutation was performed. Four cases were positive for mutation and one demonstrated wild-type BRAF.
Conclusions: Tissue samples obtained from EBUS TBNA are adequate to diagnose metastatic melanoma in hilar and mediastinal lymph nodes and to detect the presence or absence of mutations in the BRAF gene. Our findings suggest that close collaboration between bronchoscopists and pathologists will be needed to implement BRAF testing in routine practice in the era of targeted therapy.