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I. Garajová



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    MINI 34 - RNA and miRNA (ID 162)

    • Event: WCLC 2015
    • Type: Mini Oral
    • Track: Biology, Pathology, and Molecular Testing
    • Presentations: 1
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      MINI34.01 - MicroRNA Profiling of a Familial Primary Pulmonary Enteric Adenocarcinoma (ID 397)

      18:30 - 18:35  |  Author(s): I. Garajová

      • Abstract
      • Presentation
      • Slides

      Background:
      Primary pulmonary enteric adenocarcinoma (PEAC) is defined as a pulmonary adenocarcinoma with a predominant component (>50%) of intestinal differentiation and tumor cells positive for at least one intestinal marker. Due to its peculiarity and rarity, the optimal clinical management of PEAC patients remains unclear. A total of thirty cases have been described in literature to date, though familial aggregation has never been reported before. This is the first study describing the histological and molecular characterization of the PEAC from a patient with a family member affected by the same tumor.

      Methods:
      We evaluated the molecular characteristics of proband’s PEAC applying a previously validated 47-miRNA signature and applying the predictive method to estimate tissue-of-origin probabilities. Immunohistochemical (IHC) staining (TTF-1, Napsin A, CDX2, cytokeratonins, mucins) and mutational analyses (EGFR, K-RAS, ALK) were performed on formalin-fixed, paraffin-embedded tissue of a patient affected by PEAC.

      Results:
      The familial aggregation of PEAC was associated with similar clinicopathological features (age at diagnosis, smoking-habit, tumor localization, multiple colon polyps), histologic findings (IHC staining negative for TTF-1 and positive for CDX2) and genetic findings (K-RAS(Gly12Asp) mutation, but no EGFR/ALK aberrations). MiRNA profiling revealed main similarities with NSCLC (75.98%), and partial overlap with pancreatic cancer (PDAC, 23.34%), but not with colorectal cancer (less than 0.5%). Notably, this PEAC shares with PDAC key miRNAs associated with tumor aggressiveness (mir-31/-126/-506/-508-3p/-514). Figure 1



      Conclusion:
      In conclusion, we described, for the first time, PEACs in two members of the same family, associated with clinicopathological features. Moreover, miRNA profiling resembled mostly NSCLC, with a partial overlap with PDAC’s pattern that could explain the aggressive behavior compared to most NSCLC and guide future tailored-therapy approaches.

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