| A case of Peutz-Jeghers syndrome with a novel STK11 gene mutation |
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Hyo Seok Kim, Kwang Young Park, Jae Wook Jung, Seung Bum Nam, Yoon Hee Choi, Cheol Hyeon Kim, Jae Cheol Lee |
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| 증례 : STK11 유전자의 새로운 변이를 보이는 Peutz-Jeghers 증후군 1예 |
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김효석.박광영.정재욱.남승범.최윤희.김철현.이재철, Kwang Young Park, Jae Wook Jung, Seung Bum Nam, Yoon Hee Choi, Cheol Hyeon Kim, Jae Cheol Lee |
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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) |
| Key Words:
Peutz-Jeghers syndrome; STK11 protein human; Lung cancer |
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