Driver Gene Mutations of Non-Small-Cell Lung Cancer are Rare in Primary Carcinoids of the Lung: NGS Study by Ion Torrent

• DOI: 10.1007/s00408-015-9690-1
• Publication Date: 2015-02-17T10:01:54Z
• Authors: Gemma Armengol; Virinder Kaur Sar...; Mikko Rönty; Milja Tikkanen; Aija Knuuttila; Sakari Knuutila
• Keywords: Adult; Male; Lung Neoplasms; DNA Mutational Analysis; Carcinoid Tumor; DNA, Neoplasm; Middle Aged; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Carcinoma, Non-Small-Cell Lung; Mutation; Humans; Female; Aged; Genes, Neoplasm

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.