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Lung Cancer ; 82(2): 368-9, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24054548

ABSTRACT

We present a case of a 54-year-old woman who was diagnosed with a KRAS positive adenocarcinoma of the lung on the basis of a Peutz-Jeghers syndrome (PJS), which was unknown before. PJS is a rare hereditary disease, which may be associated with the development of poor outcome adenocarcinomas and LKB1-gene mutations. A very rare type of a LKB1 mutation was found, not previously described in lung cancer. Although seldom screened for LKB-1 mutations are found in up to 30% of lung adenocarcinomas and may be druggable therapeutic targets, in particular in KRAS mutant tumours in the near future as recent preclinical results with nucleotides demonstrate.


Subject(s)
Adenocarcinoma/complications , Adenocarcinoma/genetics , Lung Neoplasms/complications , Lung Neoplasms/genetics , Peutz-Jeghers Syndrome/complications , Protein Serine-Threonine Kinases/genetics , ras Proteins/genetics , AMP-Activated Protein Kinase Kinases , Adenocarcinoma/diagnosis , Adenocarcinoma of Lung , Fatal Outcome , Female , Humans , Hyperpigmentation , Lip/pathology , Lung/diagnostic imaging , Lung/pathology , Lung Neoplasms/diagnosis , Middle Aged , Tomography, X-Ray Computed
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