LKB1 mutant in a KRAS activated adenocarcinoma of the lung associated with Peutz-Jeghers syndrome: a case report.
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.
ELK Thorax Center, Lindenberger Weg 27, 13125 Berlin, Germany.
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O
Zaba
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D
Holbe
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Aretz
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Grohé
D000091162:AMP-Activated Protein Kinase Kinases; D000230:Adenocarcinoma / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D000077192:Adenocarcinoma of Lung; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017495:Hyperpigmentation; D008046:Lip / Q000473:pathology; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008175:Lung Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D010580:Peutz-Jeghers Syndrome / Q000150:complications*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D018631:ras Proteins / Q000235:genetics*
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases; D018631:ras Proteins
KRAS; LKB1; Peutz–Jeghers syndrome; Pulmonary adenocarcinoma; STK11