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

• Published in: Lung cancer (Amsterdam, Netherlands) Vol. 82; no. 2; pp. 368 - 369
• Main Authors: Zaba, O, Holbe, D, Aretz, S, Grohé, C
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier Ireland Ltd 01.11.2013; Elsevier
• Subjects: Adenocarcinoma - complications; Adenocarcinoma - diagnosis; Adenocarcinoma - genetics; Adenocarcinoma of Lung; Biological and medical sciences; Dermatology; Fatal Outcome; Female; Hematology, Oncology and Palliative Medicine; Humans; Hyperpigmentation; KRAS; Lip - pathology; LKB1; Lung - diagnostic imaging; Lung - pathology; Lung Neoplasms - complications; Lung Neoplasms - diagnosis; Lung Neoplasms - genetics; Medical sciences; Middle Aged; Multiple tumors. Solid tumors. Tumors in childhood (general aspects); Peutz-Jeghers Syndrome - complications; Peutz–Jeghers syndrome; Pigmentary diseases of the skin; Pneumology; Protein-Serine-Threonine Kinases - genetics; Pulmonary adenocarcinoma; Pulmonary/Respiratory; ras Proteins - genetics; STK11; Tomography, X-Ray Computed; Tumors; Tumors of the respiratory system and mediastinum; STK11; KRAS; Peutz–Jeghers syndrome; Pulmonary adenocarcinoma; LKB1; Adenocarcinoma; Lung disease; Skin disease; Pigmentation disorder; Lentiginosis; Respiratory disease; Peutz―Jeghers syndrome; Lung cancer; Lung; Malignant tumor; Polyposis; Peutz-Jeghers syndrome; Genetic disease; Case study; K ras Gene; Association; Digestive diseases; Bronchus disease; Benign neoplasm; Cancer
• ISSN: 0169-5002; 1872-8332
• DOI: 10.1016/j.lungcan.2013.08.019

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.