LKB1 mutant in a KRAS activated adenocarcinoma of the lung associated with Peutz-Jeghers syndrome: a case report

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.

Keywords: KRAS; LKB1; Peutz–Jeghers syndrome; Pulmonary adenocarcinoma; STK11.