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G. Ma



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    MINI 13 - Genetic Alterations and Testing (ID 120)

    • Event: WCLC 2015
    • Type: Mini Oral
    • Track: Biology, Pathology, and Molecular Testing
    • Presentations: 1
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      MINI13.02 - Detection of ALK Rearrangement and EGFR Mutation in Primary Pulmonary Lymphoepithelioma-Like Carcinoma (ID 584)

      10:45 - 12:15  |  Author(s): G. Ma

      • Abstract
      • Presentation
      • Slides

      Background:
      Primary pulmonary lymphoepithelioma-like carcinoma (LELC) is a rare histological type of large cell NSCLC. Histopathologically it is similar to nasopharyngeal carcinoma which is most commonly occurred in Southern China. It had close relationship with Epstein-Barr virus (EBV) infection. Over the past 28 years since it was first reported, less than 300 Primary pulmonary LELC cases have been reported in the literature. Due to its rarity, the treatment of advanced LELC is not only empirical, but controversial. Testing for EGFR mutation and ALK rearrangement are routine for NSCLC patients in clinical practice now. However, only few genotype studies have been done in pulmonary LELC, and till now no targeted therapy has been shown effective in the treatment of these patients.

      Methods:
      We investigated a cohort of 42 patients with primary pulmonary LELC and genotyped for ALK rearrangement and EGFR mutation. ALK rearrangement was detected by Fluorescence in situ Hybridization (FISH). EGFR mutational analysis of exons 18 through 21 was analyzed by TaqMan real-time polymerase chain reaction (PCR).

      Results:
      The clinicopathologic characteristics of 42 patients with pulmonary LELC are presented in Table 1. Twenty-seven of 42 patients were in stage I-IIIA (64.3%), and only 15/42 patients (35.7%) were in stage IIIB or IV. The female to male ratio was about 22:20, and the median age at diagnosis was 51 years (range, 29-67 years). Only 13 (31.0%) patients were smokers. In situ hybridization for Epstein-Barr virus-encoded RNA (EBERs) showed positive signals in all 42 patients. By immunohistiochemistry staining, all patients demonstrated positive expression of CK5/6 and P63, but almost all patients were negative for TTF-1(34/34, 100%) or CK7 (34/35, 97.1%). None of the 42 patients had ALK rearrangement. Of 42 patients tested EGFR mutation, only one patient (2.4%) harbored L858R mutation and gefitinib was applied to this case, however no objective response was observed and the progression free survival PFS time was only 1 month.Figure 1



      Conclusion:
      Primary pulmonary LELC is a unique histological subtype of non-small cell lung cancer. ALK rearrangement and EGFR mutation are lack and they may not be the oncogenic driver gene in pulmonary LELC. Conventional cytoxic chemotherapy is by far still a backbone treatment in advanced stage primary pulmonary LELC. Future efforts should be made to explore other oncogenic driver gene to guide targeted therapy in this rare disease to determine the optimal treatment.

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