Xiaobin Sun

Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of the extrahepatic biliary system during the first few weeks of life. Despite early diagnosis and prompt surgical intervention, the disease progresses to cirrhosis in many patients. The current theory for the pathogenesis of BA proposes that during the perinatal period, a still unknown exogenous factor meets the innate immune system of a genetically predisposed individual and induces an uncontrollable and potentially self-limiting immune response, which becomes manifest in liver fibrosis and atresia of the extrahepatic bile ducts. Genetic factors that could account for the disease, let alone for its high incidence in Chinese, are to be investigated. To identify BA susceptibility loci, we carried out a genome-wide association study (GWAS) using the Affymetrix 5.0 and 500 K marker sets. We genotyped nearly 500 000 single-nucleotide polymorphisms (SNPs) in 200 Chinese BA patients and 481 ethnically matched control subjects. The 10 most BA-associated SNPs from the GWAS were genotyped in an independent set of 124 BA and 90 control subjects. The strongest overall association was found for rs17095355 on 10q24, downstream XPNPEP1, a gene involved in the metabolism of inflammatory mediators. Allelic chi-square test P-value for the meta-analysis of the GWAS and replication results was 6.94 × 10-9. The identification of putative BA susceptibility loci not only opens new fields of investigation into the mechanisms underlying BA but may also provide new clues for the development of preventive and curative strategies. © The Author 2010. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org.

A 68-year-old man with dysphagia was referred after being diagnosed with a submucosal tumor (SMT) in the mid-esophagus at another hospital. The initial biopsy indicated chronic inflammation, and his medical history and physical examination were unremarkable. At our hospital, endoscopy showed an SMT with a biopsy scar on the surface (Figure A). Endoscopic ultrasound (EUS) revealed a mixed-echoic lesion originating from the submucosa (Figure B). Contrast-enhanced computed tomography confirmed a uniformly enhancing soft tissue lesion without lymph node involvement (Figure C). Endoscopic submucosal dissection was performed, achieving en bloc resection without complications (Supplementary Video 1). Pathology identified the lesion as a large-cell neuroendocrine carcinoma with geographic necrosis (Figure D). Immunohistochemistry was positive for synaptophysin, cytokeratin Pan, and CD56, with a Ki-67 index of 90%. The patient refused to undergo surgery and chemotherapy as recommended. Three months later, follow-up endoscopy and computed tomography showed no recurrence or metastasis. This case highlights that esophageal large-cell neuroendocrine carcinoma, an aggressive malignancy, can mimic benign SMTs. The proximal aspect of the lesion showed uniform hyperechogenicity on EUS, indicating densely packed tumor cells on histopathology, whereas the distal part contained anechoic cystic areas, indicating geographic necrosis. Combining EUS with endoscopic submucosal dissection is valuable for diagnosing and treating SMTs of unknown nature. Jiao Li and Zhengkui Zhou contributed equally to this work. eyJraWQiOiI4ZjUxYWNhY2IzYjhiNjNlNzFlYmIzYWFmYTU5NmZmYyIsImFsZyI6IlJTMjU2In0.eyJzdWIiOiJkYzE4ZjJkMzRmYThlNDYyN2Q3M2RiYzE0YTI1ZDVkYSIsImtpZCI6IjhmNTFhY2FjYjNiOGI2M2U3MWViYjNhYWZhNTk2ZmZjIiwiZXhwIjoxNzI0MDgwNjMwfQ.elUfPS88rwx97SVCbqoctl4GQsKyIDnFWdeLJu_MzRLvT1Ivcqd1bhSuE7fgw0hf8aO3jwrwEHaQjA9FP_V4dVKeuzob5SgKgx-enF3yE5c_pxe6DNT_iNxXmAgTLGflcz7SJ1bRBAuX_QQpOI01WlBWQdWmSzFdhp8f3lRnBpo-wmS2eoaNuSVjDV8Ad_0ZIp08UdZMhc_jH0N59GIg3NdvUYMNiWpUI1OWANMMA9m-QpC7aV1v4rLw9KOfWgfE3sjEPzdZs3g7NTzEz4-lcbPRp8pKfxvPl2eMupF2al1ct0fHJoOgDZdyIjw7JDz_S3TMjfh289dHA-I-9wCPSQ Download .mp4 (10.3 MB) Help with .mp4 files Supplementary Video 1EUS and histopathologic correlation of the esophageal large-cell neuroendocrine carcinoma.

Objective To assess the value of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for diagnosis of extrahepatic bile duct lesions. Methods A retrospective analysis was performed on the data of 11 patients with extrahepatic bile duct lesions undergoing EUS-FNA in the Third People′s Hospital of Chengdu between January 2012 and December 2016. The result of biopsy was compared with that of surgical finding and follow-up study. Results EUS-FNA was successfully performed on 11 patients with 1 lesions in proximal bile duct, 6 in distal bile duct, and 4 in ampulla. According to the results of biopsy, 7 lesions were pathologically confirmed as adenocarcinoma, 1 was suspicious of adenocarcinoma, 1 couldn′t be excluded as carcinoma, and 2 were considered to be benign. Compared with the results of surgical pathology and follow-up study, the sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of EUS-FNA in diagnosis of extrahepatic bile duct lesions were 89%(8/9), 100%(2/2), 91%(10/11), 100%(8/8), and 67%(2/3), respectively. One case suffered mild pancreatitis after EUS-FNA without other complications. Conclusion EUS-FNA is a safe, feasible and effective method for diagnosis of lesions in extrahepatic bile duct. Key words: Bile duct neoplasms; Endosonography; Biopsy, fine-needle; Diagnosis