Natalia Rodon¹, Olga Diaz¹, Montse Verdu^1,2, Yessica No Garbarino¹ and Xavier Puig^1,2,3.

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.

Methods

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.

Results

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.

Conclusion

Molecular profiling by NGS increases over 50% the NSCLC and CRC patients suitable for a targeted therapy and also provides significant prognostic information.

Texto completo

Abstract exhibited at the:

30th EUROPEAN CONGRESS OF PATHOLOGY

Bilbao, 8-12 September 2018