Successful outcome after laparoscopic surgery for sporadic colonic desmoid tumor with β-catenin mutation: a case report
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.
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.
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.
Full-textDOI: · Available from: Kenji Kawada, Jun 12, 2014
SourceAvailable from: Antoine Italiano[Show abstract] [Hide abstract]
ABSTRACT: Data regarding the role of chemotherapy (CT) in patients with recurrent and/or unresectable desmoid tumors (DTs) are scarce. Records of patients with DT who were treated with CT in centers from the French Sarcoma Group were reviewed. Sixty-two patients entered the study. The two most common locations were extremities (35.5%) and internal trunk (32.5%). Twelve patients (19.5%) were diagnosed with Gardner syndrome. Thirty-seven patients (54.7%) received previously one or more lines of systemic therapies (nonsteroidal anti-inflammatory drugs: 43.5%, antiestrogens: 43.5% and imatinib: 30.5%). Combination CT was delivered in 44 cases (71%) and single agent in 18 patients (29%), respectively. Thirteen patients (21%) received an anthracycline-containing regimen. The most frequent nonanthracycline regimen was the methotrexate-vinblastine combination (n=27). Complete response, partial response, stable disease and progressive disease were observed in 1 (1.6%), 12 (19.4%), 37 (59.6%) and 12 (19.4%) patients, respectively. The response rate was higher with anthracycline-containing regimens: 54% versus 12%, P=0.0011. Median progression-free survival (PFS) was 40.8 months. The sole factor associated with improved PFS was the nonlimb location: 12.1 months (95% confidence interval 5.6-18.7) versus not reached, P=0.03. CT has significant activity in DT. Anthracycline-containing regimens appear to be associated with a higher response rate.Annals of Oncology 03/2011; 23(1):182-6. DOI:10.1093/annonc/mdr051 · 6.58 Impact Factor
Article: Desmoid tumours.[Show abstract] [Hide abstract]
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