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Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report

INTRODUCTION: Desmoid tumors (also called aggressive fibromatosis) are histologically benign, but have a strong tendency to recur locally after resection. They are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis caused by a germline mutation i...

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Autores principales: Gunji, Shutaro, Kawada, Kenji, Kawada, Mayumi, Hasegawa, Suguru, Sakai, Yoshiharu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637375/
https://www.ncbi.nlm.nih.gov/pubmed/23575352
http://dx.doi.org/10.1186/1752-1947-7-100
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author Gunji, Shutaro
Kawada, Kenji
Kawada, Mayumi
Hasegawa, Suguru
Sakai, Yoshiharu
author_facet Gunji, Shutaro
Kawada, Kenji
Kawada, Mayumi
Hasegawa, Suguru
Sakai, Yoshiharu
author_sort Gunji, Shutaro
collection PubMed
description INTRODUCTION: Desmoid tumors (also called aggressive fibromatosis) are histologically benign, but have a strong tendency to recur locally after resection. They are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis caused by a germline mutation in the adenomatous polyposis coli gene. The etiology of desmoid tumors is unknown, but their association with a history of abdominal surgery, trauma, and estrogen therapy is well known. CASE PRESENTATION: A 36-year-old Asian woman was referred complaining of an abdominal tumor. She had no history of familial adenomatous polyposis, abdominal surgery, trauma or pregnancy. A laparoscopy-assisted right hemicolectomy with a minilaparotomy was conducted for resection of her right-side colon and the anterior wall of her duodenum. The histopathological diagnosis was a desmoid tumor that grew from the transverse mesocolon. Mutational analysis indicated a mutation of the β-catenin gene (CTNNB1), consisting of a substitution of threonine for alanine at codon 41. The patient has been followed postoperatively for more than 3 years without any sign of recurrence. CONCLUSION: We report a case of sporadic colonic desmoid tumor which was resected by laparoscopic surgery. A successful outcome was achieved because there has been no local recurrence for more than 3 years. The tumor grew from the transverse mesocolon, and harbored a mutation of the CTNNB1 gene. Mutational analysis of CTNNB1 gene may play an important role as a prognostic marker of desmoid tumors.
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spelling pubmed-36373752013-04-27 Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report Gunji, Shutaro Kawada, Kenji Kawada, Mayumi Hasegawa, Suguru Sakai, Yoshiharu J Med Case Rep Case Report INTRODUCTION: Desmoid tumors (also called aggressive fibromatosis) are histologically benign, but have a strong tendency to recur locally after resection. They are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis caused by a germline mutation in the adenomatous polyposis coli gene. The etiology of desmoid tumors is unknown, but their association with a history of abdominal surgery, trauma, and estrogen therapy is well known. CASE PRESENTATION: A 36-year-old Asian woman was referred complaining of an abdominal tumor. She had no history of familial adenomatous polyposis, abdominal surgery, trauma or pregnancy. A laparoscopy-assisted right hemicolectomy with a minilaparotomy was conducted for resection of her right-side colon and the anterior wall of her duodenum. The histopathological diagnosis was a desmoid tumor that grew from the transverse mesocolon. Mutational analysis indicated a mutation of the β-catenin gene (CTNNB1), consisting of a substitution of threonine for alanine at codon 41. The patient has been followed postoperatively for more than 3 years without any sign of recurrence. CONCLUSION: We report a case of sporadic colonic desmoid tumor which was resected by laparoscopic surgery. A successful outcome was achieved because there has been no local recurrence for more than 3 years. The tumor grew from the transverse mesocolon, and harbored a mutation of the CTNNB1 gene. Mutational analysis of CTNNB1 gene may play an important role as a prognostic marker of desmoid tumors. BioMed Central 2013-04-10 /pmc/articles/PMC3637375/ /pubmed/23575352 http://dx.doi.org/10.1186/1752-1947-7-100 Text en Copyright © 2013 Gunji et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gunji, Shutaro
Kawada, Kenji
Kawada, Mayumi
Hasegawa, Suguru
Sakai, Yoshiharu
Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
title Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
title_full Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
title_fullStr Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
title_full_unstemmed Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
title_short Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
title_sort successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637375/
https://www.ncbi.nlm.nih.gov/pubmed/23575352
http://dx.doi.org/10.1186/1752-1947-7-100
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