Desmoid-Type Fibromatosis: A Front-Line Conservative Approach to Select Patients for Surgical Treatment

Fiore, Marco; Rimareix, Françoise; Mariani, Luigi; Dômont, Julien; Collini, Paola; Péchoux, C. Le; Casali, Paolo G.; Cesne, Axel Le; Gronchi, Alessandro; Bonvalot, Sylvie

doi:10.1245/s10434-009-0586-2

Cited by 327 publications

(262 citation statements)

References 21 publications

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“…The 5 year local control rate in patients received ≥54 Gy was 79%, which is comparable with the literature. Currently, some investigators also suggested an observation for stable and asymptomatic lesions since it has a slowly growing pattern and/or may spontaneously regress (7,15,16,23). In a recently published study, the authors declared that approximately 50% of patients with desmoid tumors benefit from non-aggressive treatment approaches.…”

Section: Discussionmentioning

confidence: 99%

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The Role of Radiotherapy in the Treatment of Primary or Recurrent Desmoid Tumors and Long-Term Results

et al. 2016

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Background: Desmoid tumors are uncommon and benign mesenchymal neoplasms. The optimal treatment of patients with desmoid tumors is still controversial. Surgery is the primary treatment for locally invasive or recurrent desmoid tumors. Also, radiotherapy is a treatment option for patients at high risk for local failure such as those with positive margins or recurrent and unresectable tumors. Aims: To report our institutional experience and longterm results of patients with desmoid tumors who received radiotherapy. Study Design: Retrospective cross-sectional study. Methods: Between 1980 and 2009, 20 patients who received radiotherapy (RT) in our institution were analyzed. The majority of patients (80%) were referred with a recurrent tumor after previous surgery. Thirteen patients underwent marginal resection, 4 had wide local excision and 3 patients had only biopsy. Resection margin was positive in 15 (75%) patients. All patients received radiation therapy. The median prescribed dose was 60 Gy. Five patients received less than 54 Gy. Results: The median follow-up time was 77.5 months (28-283 months). Nine patients developed local recurrence after RT. Seven local failures (78%) were in field. Time to local recurrence ranged from 3-165 months (median 33 months). The 2-5 year local control (LC) rates were 80% and 69%, respectively. On univariate analysis, the 5 year local control rate was significantly better in the patients treated with ≥54 Gy than in patients who received <54 Gy (p=0.023). The most common acute side effect was grade 1-2 skin toxicity. As a late side effect of radiotherapy, soft tissue fibrosis was detected in 10 patients and lymphangitis was seen in 1 patient. One patient developed radiation-induced sarcoma. Conclusion: According to our results, radiotherapy is especially effective in recurrent disease and provides a high local control rate in the patients received more than 54 Gy.

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Section: Discussionmentioning

confidence: 99%

“…It reduces the incidence of local recurrence for these patients and it may control unresectable disease (13,14). Concurrently, some authors have reported a wait and see policy for stable and asymptomatic lesions, while others have recommended chemotherapy or systemic therapy for unresectable lesions (2,7,15,16).…”

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The Role of Radiotherapy in the Treatment of Primary or Recurrent Desmoid Tumors and Long-Term Results

et al. 2016

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“…Certainly, genotyping of CTNNB1 exon 3 is useful as a diagnostic test to distinguish a desmoid tumor from an otherwise pathologically confusing entity such as postsurgical scar. However, it is not clear what impact CTNNB1 mutation status might have on the current "watch and wait" posture that many surgeons now take in the treatment of desmoid tumors in light of at least two recent studies supporting the safety of this more conservative approach [3,18]. These studies confirm that up to 50% of patients with extra-abdominal desmoid tumors will exhibit spontaneous tumor growth arrest after initial progression, and that many if not most of these patients will not require any treatment whatsoever.…”

Section: Discussionmentioning

confidence: 99%

β-Catenin Mutation Status and Outcomes in Sporadic Desmoid Tumors

Mullen¹,

DeLaney²,

Rosenberg

et al. 2013

The Oncologist

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Background. Mutations in the gene-encoding ␤-catenin, CTNNB1, are highly prevalent in sporadic desmoid tumors and may predict the risk for recurrence. We sought to determine the prevalence of CTNNB1 mutations in a large cohort of sporadic desmoid tumors and to determine whether CTNNB1 mutation status correlates with disease outcome. Methods. Single-base extension genotyping of the CTNNB1 gene was performed on 145 sporadic, paraffin-embedded desmoid tumor specimens. Correlation of mutation status with outcome was performed on a subset of 115 patients who underwent macroscopically complete surgical resection. Results. CTNNB1 mutations were detected in 106 of 145 (73%) tumor specimens and in 86 of 115 (75%) specimens from patients who underwent curative-intent surgical resection, including discrete mutations in the following codons of CTNNB1 exon 3: T41A (46%), S45F (25%), S45P (1.7%), and S45C (0.9%). Desmoid tumors of the superficial trunk were significantly less likely to harbor CTNNB1 mutations than tumors located elsewhere, but none of the other examined clinicopathologic factors were found to be associated with CTNNB1 mutation status. At a median follow-up of 31 months, 5-year recurrence-free survival was slightly, although not statistically significantly, worse for patients with ␤-catenin-mutated tumors than for those with wild-type tumors (58% vs. 74%, respectively). The specific CTNNB1 codon mutation did not correlate with the risk for recurrence. Conclusion. CTNNB1 mutations are indeed common in sporadic desmoid tumors. However, our study did not detect a statistically significant difference in recurrence risk according to either the CTNNB1 mutation status or the specific CTNNB1 mutation. The Oncologist 2013;18:1043-1049 Implications for Practice: Mutations in the gene-encoding ␤-catenin, CTNNB1, are highly prevalent in sporadic desmoid tumors, yet whether mutation status and/or type predict outcome is not certain. In contrast to recently published studies from other groups, we did not detect a significant difference in recurrence risk according to either the CTNNB1 mutation status or the specific mutation. Accordingly, the impact of CTNNB1 mutation status in the treatment algorithm of these enigmatic tumors is uncertain at present. However, with the acquisition of further data, and as the efforts to target ␤-catenin as a therapy mature, knowledge of the CTNNB1 mutation status may eventually permit a much more rational, individualized treatment approach to desmoid tumors. INTRODUCTIONDesmoid tumor, also known as aggressive fibromatosis, is a mesenchymal tumor that arises from fascial or deep musculoaponeurotic structures [1,2]. Although desmoid tumors do not metastasize, they can be locally invasive and exhibit a propensity to recur despite aggressive surgical resection. Desmoid tumors may arise sporadically or in association with familial adenomatous polyposis (FAP), caused by a germ-line mutation in the adenomatous polyposis coli (APC) gene. Treatment consists of surgery, radiation therapy, and ...

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“…In their study, tumour growth arrest occurred in two-thirds of patients managed non-surgically. A larger, multiinstitutional study conducted recently also showed that a wait-andsee approach avoided the need for aggressive surgery and radiotherapy in the majority of patients with primary tumours (Fiore et al, 2009). Intrinsic biological characteristics of tumour cells and the host microenvironment, for example, could account for highly diverse outcomes.…”

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confidence: 99%

High frequency of β-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management

et al. 2010

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BACKGROUND: Fibromatosis comprises distinct clinical entities, including sporadic extra-abdominal fibromatosis, which have a high tendency for recurrence, even after adequate resection. There are no known molecular biomarkers of local recurrence. We searched for b-catenin mutations in a European multicentre series of fibromatosis tumours to relate b-catenin mutational status to disease outcome. METHODS: Direct sequencing of exon 3 b-catenin gene was performed for 155 frozen fibromatosis tissues from all topographies. Correlation of outcome with mutation rate and type was performed on the extra-abdominal fibromatosis group (101 patients). RESULTS: Mutations of b-catenin were detected in 83% of all cases. Among 101 extra-abdominal fibromatosis, similar mutation rates (87%) were observed, namely T41A (39.5%), S45P (9%), S45F (36.5%), and deletion (2%). None of the clinico-pathological parameters were found to be significantly associated with b-catenin mutational status. With a median follow-up of 62 months, 51 patients relapsed. Five-year recurrence-free survival was significantly worse in b-catenin-mutated tumours regardless of a specific genotype, compared with wild-type tumours (49 vs 75%, respectively, P ¼ 0.02). CONCLUSION: A high frequency (87%) of b-catenin mutation hallmarks extra-abdominal fibromatosis from a large multicentric retrospective study. Moreover, wild-type b-catenin seems to be an interesting prognostic marker that might be useful in the therapeutic management of extra-abdominal fibromatosis.

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Desmoid-Type Fibromatosis: A Front-Line Conservative Approach to Select Patients for Surgical Treatment

Cited by 327 publications

References 21 publications

The Role of Radiotherapy in the Treatment of Primary or Recurrent Desmoid Tumors and Long-Term Results

The Role of Radiotherapy in the Treatment of Primary or Recurrent Desmoid Tumors and Long-Term Results

β-Catenin Mutation Status and Outcomes in Sporadic Desmoid Tumors

High frequency of β-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management

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