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David H. Hwang, MD, Lynette M. Sholl, MD, Vanesa Rojas-Rudilla, M

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Presentation on theme: "David H. Hwang, MD, Lynette M. Sholl, MD, Vanesa Rojas-Rudilla, M"— Presentation transcript:

1 KRAS and NKX2-1 Mutations in Invasive Mucinous Adenocarcinoma of the Lung 
David H. Hwang, MD, Lynette M. Sholl, MD, Vanesa Rojas-Rudilla, M.Phil, Dimity L. Hall, BS, Priyanka Shivdasani, MS, Elizabeth P. Garcia, PhD, Laura E. MacConaill, PhD, Marina Vivero, MD, Jason L. Hornick, MD, PhD, Frank C. Kuo, MD, PhD, Neal I. Lindeman, MD, Fei Dong, MD  Journal of Thoracic Oncology  Volume 11, Issue 4, Pages (April 2016) DOI: /j.jtho Copyright © 2016 International Association for the Study of Lung Cancer Terms and Conditions

2 Figure 1 Mutations in mucinous adenocarcinomas of the lung.
Journal of Thoracic Oncology  , DOI: ( /j.jtho ) Copyright © 2016 International Association for the Study of Lung Cancer Terms and Conditions

3 Figure 2 Orthogonal validation of five NK2 homeobox 1 gene (NKX2-1) mutations from the discovery cohort: (A) NKX2-1 c.560C>A (p.S187*), (B) NKX2-1 c.254delG (p.G85fs), (C) NKX2-1 c.815_831del (p.A272fs), (D) NKX2-1 c.647dupA (p.M216fs), and (E) NKX2-1 c.175_190del (p.G59fs). Mutations with allele fraction greater than 20% (A–C) have been validated by Sanger sequencing. Mutations with an allele fraction of less than 20% have been validated by pyrosequencing (D) or sizing of polymerase chain reaction products by capillary electrophoresis (E). All mutations have been validated to be somatic (present in tumor tissue and absent in paired normal tissue from the same patient). Mut, mutated sequence or product; Ref, reference or wild-type sequence or product. Journal of Thoracic Oncology  , DOI: ( /j.jtho ) Copyright © 2016 International Association for the Study of Lung Cancer Terms and Conditions

4 Figure 3 Representative invasive mucinous adenocarcinoma with Kirsten rat sarcoma viral oncogene homolog gene (KRAS) and NK2 homeobox 1 gene (NKX2-1) mutations. Hematoxylin and eosin staining shows goblet cell morphology with abundant intracellular mucin (A). Tumor cells are negative for TTF-1 (B), and Napsin A (C); positive for cytokeratin 7 (CK7) (D); and variably positive for cytokeratin 20 (CK20) (E), caudal-related homeobox transcription factor 2 (CDX2) (F), mucin 5AC, oligomeric mucus/gel-forming (MUC5AC) (G), and mucin 6, oligomeric mucus/gel-forming (MUC6) (H). Journal of Thoracic Oncology  , DOI: ( /j.jtho ) Copyright © 2016 International Association for the Study of Lung Cancer Terms and Conditions

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