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      Minimally invasive diagnostic and therapeutic surgery for an intra-abdominal desmoid tumor: A case report

      case-report

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          Highlights

          • Intra-abdominal desmoid tumor is rare with no particular imaging features, so preoperative diagnosis is quite difficult.

          • R0 resection is essential for treatment but often requires extensive surgical trauma, which can be a risk for recurrence.

          • A laparoscopic approach for this tumor was effective, with the resulting diagnosis and resection being less traumatic.

          • The first report of successful laparoscopic complete resection and reconstructive procedures were demonstrated.

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          Most cited references9

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          Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors.

          Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Molecular determinants of desmoid recurrence remain obscure. beta-Catenin deregulation has been commonly identified in sporadic desmoids although the incidence of CTNNB1 (the gene encoding beta-catenin) mutations is uncertain. Consequently, we evaluated the prevalence of CTNNB1 mutations in a large cohort of sporadic desmoids and examined whether mutation type was relevant to desmoid outcome. Desmoid specimens (195 tumors from 160 patients, 1985 to 2005) and control dermal scars were assembled into a clinical data-linked tissue microarray. CTNNB1 genotyping was performed on a 138-sporadic desmoid subset. Immunohistochemical scoring was performed per standard criteria and data were analyzed using Kaplan-Meier and other indicated methods. CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids. Three discrete mutations in two codons of CTNNB1 exon 3 were identified: 41A (59%), 45F (33%), and 45P (8%, excluded from further analysis because of rarity). Five-year recurrence-free survival was significantly poorer in 45F-mutated desmoids (23%, P < 0.0001) versus either 41A (57%) or nonmutated tumors (65%). Nuclear beta-catenin expression was observed in 98% of specimens and intensity was inversely correlated with incidence of desmoid recurrence (P < 0.01). In conclusion, CTNNB1 mutations are highly common in desmoid tumors. Furthermore, patients harboring CTNNB1 (45F) mutations are at particular risk for recurrence and therefore may especially benefit from adjuvant therapeutic approaches.
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            The desmoid syndrome. New aspects in the cause, pathogenesis and treatment of the desmoid tumor.

            Based on a detailed clinical and laboratory investigation of 89 patients with histologically verified desmoid tumor and the pertinent medical literature, we have reviewed the etiologic factors, clinical characteristics, and results of treatment of this rare disorder. The incidence of the tumor in the Finnish population is low, 2.4 to 4.3 new cases per 10(6) inhabitants per year. The age distribution profile demonstrated four distinct peak periods: the juvenile period, the fertile period, the middle-age period and the old-age period. The juvenile desmoid tumor is an extraabdominal tumor found in young girls, the fertile variety is an abdominal tumor found in women, the middle age variety is also overwhelmingly abdominal but the sex ratio approaches equality, whereas in the old age group, both abdominal and extraabdominal tumors are equally frequent and the sex ratio is equal. In all male patients, the growth rate was low. A low growth rate was also recorded in young girls. A growth rate of twice that speed was seen in fertile women and four times that speed in the middle age group. In the old age group, a low growth rate, equal to that of male patients, was a rule. The fertile female patients with desmoid tumor had a significant predisposition to estrogen dominance and deviation from progesterone dominance. The direct relationship of the growth rate to the level of endogenous estrogen in the female patients and the demonstration of significant amounts of estradiol but not progesterone receptors in the tumor cytosol further suggest that the growth rate of desmoid tumor is regulated by steroid sex hormones. A significant number of patients with an abdominal desmoid tumor had a history of surgical trauma in the region of subsequent tumor growth. A very high number of the patients demonstrated multiple minor malformations of the bony skeleton. An increased frequency of these malformations was also recorded in the families of the patients and the distribution of the malformations among the family members was compatible with an autosomally dominant pattern of inheritance. After operation, the frequency of recurrence was not statistically different, regardless of whether the tumor was completely removed or not. A combination of operation and radiotherapy did not reduce the frequency of recurrences; in fact, it doubled it.(ABSTRACT TRUNCATED AT 400 WORDS)
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              A to Z of desmoid tumors.

              The purpose of this article is to illustrate the common locations of desmoid tumors (deep fibromatosis), complications of intra- and extraabdominal desmoids, and treatment-related changes in their imaging appearance. Desmoids are locally aggressive fibrous tumors with a tendency to recur. Desmoids can be intraabdominal, in the abdominal wall, or extraabdominal. Complications, such as compression or invasion of adjacent structures, and abscess formation can occur. Treatment options include observation, local treatment (surgery, radiotherapy), or systemic therapy (conventional chemotherapy, molecular targeted agents).
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                Author and article information

                Contributors
                Journal
                Gynecol Oncol Rep
                Gynecol Oncol Rep
                Gynecologic Oncology Reports
                Elsevier
                2352-5789
                2352-5789
                12 March 2020
                May 2020
                12 March 2020
                : 32
                : 100560
                Affiliations
                Department of Gynecologic Oncology, Cancer Institute Hospital, 3-8-31 Ariake, Koutouku, Tokyo 135-8550, Japan
                Author notes
                [* ]Corresponding author at: Department of Gynecologic Oncology, Cancer Institute Hospital, 3-8-31 Ariake, Koutouku, Tokyo 135-8550, Japan. hiroyuki.kanao@ 123456jfcr.or.jp
                Article
                S2352-5789(20)30026-6 100560
                10.1016/j.gore.2020.100560
                7090365
                05302064-54e6-4785-88b8-75c880b9b0ef
                © 2020 The Author(s)

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 12 January 2020
                : 9 March 2020
                : 10 March 2020
                Categories
                Case Report

                intra-abdominal desmoid tumor,surgical trauma,laparoscopic complete resection,minimal invasiveness

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