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C. Gu



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    Poster Session (ID 8)

    • Event: ACLC 2018
    • Type: Poster Session
    • Track:
    • Presentations: 1
    • Moderators:
    • Coordinates: 11/07/2018, 00:00 - 00:00, Poster Hall
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      P040 - Highly Sensitivity and Fast Genetic Diagnosis by Mean of a Novel NGS-Based Resequencing Gene Panel Underlying SCLC Patients (ID 105)

      00:00 - 00:00  |  Author(s): C. Gu

      • Abstract

      Background:
      Lung cancer is the leading cause of cancer death worldwide. Small cell lung cancer (SCLC) is a malignancy with multiplex toxin-associated mutations, which accounts for about 15% of all the types of lung cancers. Overall, it remains a clinical challenge with extremely aggressive behavior of early systemic spreading. No effective target therapies and protein biomarkers are available in the treatment of SCLC and the association between gene mutations and SCLC still remains unclear. It makes an urgent need for detection of novel biomarkers in this highly lethal neuroendocrine type of cancer.


      Method:
      We assessed the four protein biomarkers and performed 303 cancer driver genes to investigate the mutation profiles of 32 FFPE tissues derived from Chinese SCLC patients using next generation sequencing.


      Results:
      Amongst the 32 FFPE samples, mutant genes were observed in all the patients of SCLC (32/32, 100%). TP53 mutations were the most prevalent (19/32; 59.38%), followed by RB1 (11/32; 34.38%), KMT2D (8/32; 25%), BRCA1 (6/32; 18.75%), LRRK2 (6/32; 18.75%), and ARID2 (6/32; 18.75%). Notably, there was relatively high mutation hotspot (6.25%, 2/32) of the p.P278S and p.W516X mutations in TP53 and RB1, respectively. Overall, the six of the most frequent mutations were identified in patients with SCLC including three well-known mutant genes (TP53, RB1 and KMT2D) and three rare genes (BRCA1, LRRK2 and ARID2) not previously reported in Chinese patients with SCLC.


      Conclusion:
      Based on our findings, we propose that these oncogenic mutations might serve as potential biomarkers and provide clinicians with candidate therapeutic targets for Chinese SCLC patients.