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      Current Advance in Small Bowel Tumors


      Clinical Endoscopy

      The Korean Society of Gastrointestinal Endoscopy

      Small bowel, Tumor

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          Small intestinal tumors are difficult challenge to gastroenterologists. The difficulty in making a diagnosis of small intestinal tumor lies in the relative inaccessibility and absence of typical presentation. New endoscopic and radiologic technologies provide clear and fine anatomical visualization of the small bowel and are approved to improve the diagnostic sensitivity and accuracy. Patients at risk of small intestinal tumors might gain a benefit from proper surveillance with this new technology. Minimally invasive therapy is now available with advance of balloon assisted enteroscopy. This review describes the general aspect of the small intestinal tumors, focusing on the new modalities for diagnosis.

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          Most cited references 82

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          Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.

          Gastrointestinal stromal tumors (GISTs) are specific, generally Kit (CD117)-positive, mesenchymal tumors of the gastrointestinal tract encompassing a majority of tumors previously considered gastrointestinal smooth muscle tumors. They are believed to originate from interstitial cells of Cajal or related stem cells. To review current clinicopathologically relevant information on GIST. Literature in Medline and authors' own experience. GISTs usually occur in older adults (median age 55-60 years) and rarely in children in the second decade (<1%) throughout the gastrointestinal tract: 60% in stomach, 35% in small intestine, and less than 5% in rectum, esophagus, omentum, and mesentery; most GISTs in the latter 2 sites are metastatic. Five percent of GISTs occur in patients with neurofibromatosis type 1 syndrome (multiple small intestinal tumors) and in Carney triad (gastric epithelioid GISTs in young females). Familial GISTs occur in patients with inheritable germline Kit or platelet-derived growth factor receptor alpha (PDGFRA) mutations. Histologically GISTs vary from spindle cell tumors to epithelioid and pleomorphic tumors. Most GISTs (95%) express Kit (CD117), CD34 (70%), and heavy caldesmon (80%), whereas 25% are positive for smooth muscle actin and less than 5% for desmin. Tumor size and mitotic activity are best predictive prognostic features; small intestinal tumors behave more aggressively than gastric tumors with similar parameters. Mutually exclusive gain-of-function Kit or PDGFRA mutations occur in a majority of GISTs representing in-frame deletions, point mutations, duplications and insertions. Mutations in Kit juxtamembrane domain (exon 11) are the most common in GISTs of all sites, whereas rare Kit extracellular domain (exon 9) Ala502-Tyr503 duplication is specific for intestinal GISTs. Mutations in PDGFRA have been identified in juxtamembrane (exon 12) and tyrosine kinase domains (exons 14 and 18), nearly exclusively in gastric GISTs, mostly in epithelioid variants. Some Kit and PDGFRA mutations have a prognostic value. Kit/PDGFRA tyrosine kinase inhibitor imatinib has been successfully used in the treatment of metastatic GISTs for more than 5 years. However, primary and acquired secondary resistance linked to certain types of Kit and PDGFRA mutations is limiting long-term success necessitating the use of alternative treatments.
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            Very high risk of cancer in familial Peutz-Jeghers syndrome.

            The Peutz-Jeghers syndrome (PJS) is an autosomal dominant polyposis disorder with increased risk of multiple cancers, but literature estimates of risk vary. We performed an individual patient meta-analysis to determine the relative risk (RR) of cancer in patients with PJS compared with the general population based on 210 individuals described in 6 publications. For patients with PJS, the RR for all cancers was 15.2 (95% confidence limits [CL], 2, 19). A statistically significant increase of RR was noted for esophagus (57; CL, 2.5, 557), stomach (213; CL, 96, 368), small intestine (520; CL, 220, 1306), colon (84; CL, 47, 137), pancreas (132; CL, 44, 261), lung (17.0; CL, 5.4, 39), breast (15.2; CL, 7.6, 27), uterus (16.0; CL, 1.9, 56), ovary (27; CL, 7.3, 68), but not testicular or cervical malignancies. Cumulative risk for all cancer was 93% from age 15 to 64 years old. Patients with PJS are at very high relative and absolute risk for gastrointestinal and nongastrointestinal cancers.
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              Cancer statistics, 2002.

              Every year the American Cancer Society estimates the number of new cancer cases and deaths expected in the United States in the current year and compiles the most recent data on cancer incidence, mortality, and survival, using National Cancer Institute (NCI) incidence and National Center for Health Statistics (NCHS) mortality data. Incidence and death rates are age adjusted to the 1970 US standard population. It is estimated that 1,284,900 new cases of cancer will be diagnosed and 555,500 people will die from cancer in the United States in the year 2002. From 1992 to 1998, cancer death rates declined in males and females, while cancer incidence rates decreased among males and increased slightly among females. Most notably, African-American men showed the largest decline for both incidence and mortality. Nevertheless, African Americans still carry the highest burden of cancer with later-stage cancer diagnosis and poorer survival compared with whites. Despite the continued decline in cancer death rates, the total number of recorded cancer deaths in the United States continues to increase slightly due to the aging and expanding population.

                Author and article information

                Clin Endosc
                Clin Endosc
                Clinical Endoscopy
                The Korean Society of Gastrointestinal Endoscopy
                September 2011
                30 September 2011
                : 44
                : 1
                : 13-21
                Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea.
                Author notes
                Correspondence: Myung-Gyu Choi. Department of Internal Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea College of Medicine, 505 Banpo-dong, Seocho-gu, Seoul 137-040, Korea. Tel: +82-2-2258-2083, Fax: +82-2-2258-2089, choim@
                Copyright © 2011 The Korean Society of Gastrointestinal Endoscopy

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


                Radiology & Imaging

                tumor, small bowel


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