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世界核心医学期刊文摘（妇产科学分册） 2005年第12期1卷 16-17页

作者： Irvin W. Evans S.R. Andersen w. 朱晓明 Division of Gynecologic Oncology Box 800712 University of Virginia Health System Charlottesville VA 22908 United States Dr.

Objective: Given the demonstrated utility of human papilloma virus DNA triage in the management of atypical squamous cells of undetermined significance, this study sought to evaluate the potential role of human papilloma virus DNA testing in the evaluation and management of cytological atypical glandular cells. Study design: Follow.ng institutional review.board approval, 28 w.men presenting w.th cytological atypical glandular cells underw.nt repeat thin-prep cytology, Hybrid Capture 2 human papilloma virus DNA testing, colposcopic evaluation, Fisher electrosurgical conization, and endometrial sampling. Human papilloma virus test results in each patient w.re then correlated w.th histologic lesions, if present. Results: Sixteen of the 28 study patients had pathologic lesions (11/28 high-grade squamous intraepithelial lesion, 3/28 low.grade squamous intraepithelial lesion, 1/28 adenocarcinoma in situ, 1/28 simple endometrial hyperplasia). Human papilloma virus DNA testing w.s available in 24 of 28 subjects (86% ). The sensitivity of human papilloma virus positivity to predict the presence of cervical intraepithelial neoplasia w.s 100% (confidence interval 77% to 100% ), specificity 64% (confidence interval 35% to 85% ), positive predictive value 76% , and negative predictive value 100% . w.men w.o tested human papilloma virus positive w.re 12 times more likely to have cervical intraepithelial neoplasia than w.men w.o w.re human papilloma virus negative (Fisher Pw.s not predictive of endometrial pathology; w.men w.o w.re human papilloma virus positive w.re less likely to have endometrial pathology than w.re w.men w.o w.re human papilloma virus negative (risk ratio 1.6, 95% confidence interval 0.01- 1.7). Conclusion: Atypical glandular cells can represent a variety of lesions. The majority of the lesions w.ll be squamous intraepithelial lesions of the cervix (50% ), w.th high-grade squamous intraepithelial lesion present in 40% of subjects. Human papilloma virus DNA testing is

关键词：细胞学诊断 HPV DNA检测 AGC DNA 鳞状上皮内病变宫颈锥切子宫内膜人乳头瘤病毒原位腺癌阴道镜检

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Glucagon receptor gene mutations w.th hyperglucagonemia but w.thout the glucagonoma syndrome

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w.rld Journal of Gastrointestinal Surgery 2015年第4期7卷 60-66页

作者： Helen C Miller Mark Kidd irvin M Modlin Patrizia Cohen Roberto Dina Panagiotis Drymousis Panagiotis Vlavianos Günter Klöppel Andrea Frilling Department of Surgery and Cancer Imperial College LondonLondon W12 0HSUnited Kingdom Department of Surgery Yale UniversityNew HavenCT 06510United States Emeritus Yale University School of MedicineNew HavenCT 06510United States Department of Histopathology Imperial College LondonLondon W12 0HSUnited Kingdom Department of Gastroenterology Imperial College LondonLondon W12 0HSUnited Kingdom Department of Pathology Technical University of Munich81675 MunichGermany

Pancreatic neoplasms producing exclusively glucagon associated w.th glucagon cell hyperplasia of the islets and not related to hereditary endocrine syndromes have been recently described. They represent a novel entity w.thin the panel of non-syndromic disorders associated w.th hyperglucagonemia. This case report describes a 36-year-old female w.th a 10 years history of nonspecific abdominal pain. No underlying cause w.s evident despite extensive diagnostic w.rk-up. More recently she w.s diagnosed w.th gall bladder stones. Abdominal ultrasound, computerised tomography and magnetic resonance imaging revealed no pathologic findings apart from cholelithiasis. Endoscopic ultrasound revealed a 5.5 mm pancreatic lesion. Fine needle aspiration show.d cells focally expressing chromogranin, suggestive but not diagnostic of a low.grade neuroendocrine tumor. Octreo Scan w.s negative. Serum glucagon w.s elevated to 66 pmol/L(normal: 0-50 pmol/L). Other gut hormones, chromogranin A and chromogranin B w.re normal. Cholecystectomy and enucleation of the pancreatic lesion w.re undertaken. Postoperatively, abdominal symptoms resolved and serum glucagon dropped to 7 pmol/L. Although H and E staining confirmed normal pancreatic tissue, immunohistochemistry w.s initially thought to be suggestive of alpha cell hyperplasia. A count of glucagon positive cells from 5 islets, compared to 5 islets from 5 normal pancreata indicated that islet size and glucagon cell ratios w.re increased, how.ver still w.thin the w.de range of normal physiological findings. Glucagon receptor gene(GCGR) sequencing revealed a heterozygous deletion,K349_G359del and 4 missense mutations. This case may potentially represent a progenitor stage of glucagon cell adenomatosis w.th hyperglucagonemia in the absence of glucagonoma syndrome. The identification of novel GCGR mutations suggests that these may represent the underlying cause of this condition.

关键词： Hyperglucagonemia Glucagon receptorgene Mutation Adenomatosis Pancreas

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