Driver gene mutations of non-small-cell lung cancer are rare in primary carcinoids of the lung : NGS study by Ion Torrent
Armengol Rosell, Gemma (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Sarhadi, Virinder Kaur (University of Helsinki. Haartman Institute. Department of Pathology)
Rönty, Mikko (Helsinki University Central Hospital. HUSLAB. Department of Pathology)
Tikkanen, Milja (University of Helsinki. Haartman Institute. Department of Pathology)
Knuuttila, Aija (Helsinki University Central Hospital. Heart and Lung Center. Department of Pulmonary Medicine)
Knuutila, Sakari (University of Helsinki. Haartman Institute. Department of Pathology)

Data:	2015
Resum:	Lung carcinoids are rare neuroendocrine tumors of the lung. Very little is known about the genetic background of these tumors. We applied Ion Torrent Ampliseq next-generation technology to study hotspot mutations of 22 lung cancer-related genes from typical and atypical lung carcinoid tumors. DNA isolated from 25 formalin-fixed, paraffin-embedded carcinoid tumors were amplified to prepare barcoded libraries covering 507 mutations included in 90 amplicons. The libraries were pooled, purified, enriched, and sequenced on ion personal genome machine. The sequences were aligned and checked for known and novel variations using Torrent Suite Software v. 4. 0. 2. One out of 25 patients had mutations in the targeted regions sequenced. This patient had mutations in BRAF, SMAD4, PIK3CA, and KRAS. All these mutations were confirmed as somatic and are previously known mutations. In summary, mutations in genes commonly mutated in non-small-cell lung cancer are not common in lung carcinoids.
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Llengua:	Anglès
Document:	Article ; recerca ; Versió acceptada per publicar
Matèria:	Lung carcinoid ; Mutations ; Next-generation sequencing
Publicat a:	Lung, Vol. 193, issue 2 (April 2015) , p. 303-308, ISSN 1432-1750

DOI: 10.1007/s00408-015-9690-1

Postprint 14 p, 720.8 KB

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