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KMID : 0882420080750000942
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Korean Journal of Medicine
2008 Volume.75 No. 0 p.942 ~ p.947
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A case of Peutz-Jeghers syndrome with a novel STK11 gene mutation
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Kim Hyo-Seok
Park Kwang-Young
Jeong Jae-Wook
Nam Seung-Bum
Choi Yoon-Hee
Kim Cheol-Hyeon
Lee Jae-Cheol
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Abstract
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Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by gastrointestinal hamartomatous polyposis and mucocutaneous melanin pigmentation. Germline inactivation of STK11 (LKB1), located on region 13.3 of the short arm of chromosome 19, is responsible for the disease. A 29-year-old male was admitted to our hospital with a dry cough. He was diagnosed withPeutz-Jeghers syndrome, based on the presence of mucocutaneous pigmentation of the lipsand buccal mucosa, and gastric hamartomatous polyps. He also had multiple small nodules in both lungs. Chest computed tomography and a video-assisted thoracoscopic surgery (VATS) biopsy revealed bronchioloalveolar cell carcinoma. On molecular analysis, we detected a novel mutation in the STK11 gene (c.1580-1G→T), suggesting that the loss of STK11 function might have led to Peutz-Jeghers syndrome and lung cancer in this patient. (Korean J Med 75:S942-S947, 2008)
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KEYWORD
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Peutz-Jeghers syndrome, STK11 protein human, Lung cancer
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