| Frequent activating GNAS mutations in villous adenoma of the colorectum. | |
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MedLine Citation:
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PMID: 22374786 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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To elucidate the role of GNAS mutations in colorectal tumorigenesis, we performed a mutation analysis in a total of 234 colorectal tumors, including adenomas, serrated lesions and adenocarcinomas. Activating GNAS mutations were found in 20 of the 24 villous adenomas (83%), but were absent in all the other tumors except for one tubulovillous adenoma (3%) and two adenocarcinomas (3%). KRAS and BRAF mutations were always mutually exclusive. KRAS mutations were frequent in villous (67%) and tubulovillous adenomas (60%), but were rare or absent in tubular adenomas (6%) and serrated lesions, including hyperplastic polyps, sessile serrated polyps/sessile serrated lesions, and traditional serrated adenomas (0-9%). BRAF mutations were found in four villous adenomas (17%) and in the large majority of serrated lesions (81-92%), but were absent in tubular and tubulovillous adenomas. Seventeen villous adenomas (71%) harbored GNAS mutations concomitantly with KRAS or BRAF mutations. Immunohistochemically, all the villous adenomas retained mismatch repair protein expression, suggesting that they are microsatellite stable. The current study showed that the presence of activating GNAS mutations, in association with KRAS or BRAF mutations, is a characteristic genetic feature of colorectal villous adenoma. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. |
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Authors:
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Masayoshi Yamada; Shigeki Sekine; Reiko Ogawa; Hirokazu Taniguchi; Ryoji Kushima; Hitoshi Tsuda; Yae Kanai |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-2-28 |
Journal Detail:
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Title: The Journal of pathology Volume: - ISSN: 1096-9896 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-2-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0204634 Medline TA: J Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. |
Affiliation:
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Pathology and Clinical Laboratory, National Cancer Center Hospital, Tokyo 104-0045, Japan; Endoscopy Division, National Cancer Center Hospital, Tokyo 104-0045, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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