Natalia Rodon1, Olga Diaz1, Montse Verdu1,2, Yessica No Garbarino1 and Xavier Puig1,2,3.
1BIOPAT. Biopatologia Molecular SL. Grup Assistència. Barcelona, Spain. 2HISTOPAT SL. Barcelona, Spain. 3Hospital de Barcelona, Grup Assistència. Barcelona, Spain.
Background and objectives
The results of DNA and RNA molecular profiles obtained from non-small cell lung cancer (NSCLC) and colorectal patients (CRC) since the implementation of a Next Generation Sequencing (NGS) panel in a diagnostic laboratory setting were analyzed. A review of the detected mutations in its clinicopathological context was performed and the hypothetical increased number of patients suitable for a targeted therapy was tested.
The series included 364 patients, 211 with NSCLC and 153 with CRC. DNA was extracted and libraries were prepared with a 22 gene panel. Only NSCLC were tested with a RNA NGS panel for rearrangements in 4 genes.
In NSCLC, 235 mutations were detected. Mutations in EGFR (19%), KRAS (22,8%), TP53 (49,7%) and, ranging from 0,5% to 6%, in ALK, ERBB4, FGFR2, FGFR3, MET, DDR2, PIK3CA, BRAF, PTEN, NRAS, MAP2K, STK11, CTNNB1, SAMD4 and FBXW7 were detected. At a RNA level the 3,5%, 1,4% and 2,1% of NSCLC showed an ALK, ROS1 and RET rearrangement respectively. No NTRK1 alteration was detected. In CRC, 272 mutations were detected. Mutations in KRAS, NRAS, BRAF, TP53, PIK3CA, SMAD4 and FBXW7 were detected in 52%, 3,4%, 14,2%, 57,4%, 18,9%, 10,1% and 8,1% of patients, respectively. Moreover, mutations in ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, MET, DDR2, AKT, PTEN, MAP2K1, STK11, NOTCH1 and CTNNB1, ranging from 0,7% to 5%, were detected.
Molecular profiling by NGS increases over 50% the NSCLC and CRC patients suitable for a targeted therapy and also provides significant prognostic information.
Abstract exhibited at the:
30th EUROPEAN CONGRESS OF PATHOLOGY
Bilbao, 8-12 September 2018