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Annals of Medicine and Surgery (2012) Apr 2023Desmoid-type fibromatosis (DF) is a rare subtype of soft tissue sarcomas that most commonly occurs in the anterior abdominal wall. When occurring in the retroperitoneum,...
UNLABELLED
Desmoid-type fibromatosis (DF) is a rare subtype of soft tissue sarcomas that most commonly occurs in the anterior abdominal wall. When occurring in the retroperitoneum, DF is usually part of familial syndromes while only rarely sporadic. This makes it imperative to report any instance of experience with DF and the oncological outcomes of the different approaches to management. We report two cases of sporadic and severe DF occurring in the retroperitoneum at our institution.
CASE PRESENTATION
The first case is a male that presented with urinary obstruction symptoms and underwent surgical resection of the tumor that extended into the left kidney. The second case is a female with a history of recurrent desmoid tumors of the thigh and was incidentally diagnosed with retroperitoneal DF on imaging. She underwent tumor resection and radiotherapy; however, the tumor recurred with urinary obstruction symptoms that required another surgical resection. Histopathological characteristics and radiological imaging of both cases are described below.
CLINICAL DISCUSSION
Desmoid tumors often recur, thus significantly influencing the quality of life which is reflected in one of our cases. Surgery remains a mainstay treatment, and both cases presented in this report required surgical resection of the tumors as symptomatic and curative measures.
CONCLUSION
Retroperitoneal DF is a rare entity, and our cases add to the scarce literature available on the topic, which may well contribute to the formulation of practice-changing recommendations and guidelines focused on this rare variant of DF.
PubMed: 37113969
DOI: 10.1097/MS9.0000000000000491 -
International Journal of Hyperthermia :... Sep 2021To evaluate the safety and efficacy of ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation for desmoid tumors (DTs).
OBJECTIVE
To evaluate the safety and efficacy of ultrasound-guided high-intensity focused ultrasound (USgHIFU) ablation for desmoid tumors (DTs).
METHOD
A total of 111 patients with histologically proven DTs were included and treated by USgHIFU ablation. Adverse events were continuously evaluated according to the Common Terminology Criteria for Adverse Events (CTCAE) v5.0 until 3 months after treatment. The incidence of non-perfused areas within the treated tumors, non-perfused volume rate (NPVR) and tumor volume reduction were evaluated using contrast-enhanced MRI before and one week and 3 months after the procedure.
RESULTS
The enrolled patients (32 male, 79 female, mean age 29.5 ± 1.0 years) with 145 DTs (118 extra-abdominal, 16 abdominal wall, 11 intra-abdominal; median maximum diameter: 9.6 cm, range: 3-34.5 cm) underwent 188 sessions of HIFU ablation, and the mean number of ablations was 1.7 (range, 1-7) per patient. In majority of cases (143/145 cases, 98.6%), no serious adverse events were observed. There was no significant difference in the incidence of adverse events between patients who received a single treatment and those who received multiple treatments. Non-perfused area was observed within every treated tumor, and the median NPVR was 84.9% (range, 1.9-100%). The tumor volume reduction rate was 36.1 ± 4.2% at 3 months after treatment.
CONCLUSION
USgHIFU ablation, as a noninvasive and easily repeatable local treatment, is a promising treatment for DTs.
Topics: Adult; Female; Fibromatosis, Aggressive; High-Intensity Focused Ultrasound Ablation; Humans; Male; Treatment Outcome; Ultrasonography; Ultrasonography, Interventional
PubMed: 34420439
DOI: 10.1080/02656736.2021.1894359 -
Quality of Life Research : An... Oct 2023The GODDESS tool was developed to assess Desmoid Tumor/Aggressive Fibromatosis (DT/AF) symptom severity and impact on patients' lives. This study evaluated GODDESS's... (Randomized Controlled Trial)
Randomized Controlled Trial
GOunder/Desmoid Tumor Research Foundation DEsmoid Symptom/Impact Scale (GODDESS): psychometric properties and clinically meaningful thresholds as assessed in the Phase 3 DeFi randomized controlled clinical trial.
PURPOSE
The GODDESS tool was developed to assess Desmoid Tumor/Aggressive Fibromatosis (DT/AF) symptom severity and impact on patients' lives. This study evaluated GODDESS's cross-sectional and longitudinal measurement properties.
METHODS
The Phase 3, randomized placebo-controlled, DeFi study (NCT03785964) of nirogacestat in DT/AF was used to assess GODDESS's reliability, construct validity, responsiveness, and estimate of meaningful change thresholds (MCTs). Other patient-reported outcome (PRO) measures included Patient Global Impression of Severity (PGIS) in DT/AF symptoms, EORTC QLQ-C30, Brief Pain Inventory Short Form, and PROMIS Physical Function short-form 10a v2.0 plus 3 items.
RESULTS
DeFi participants (N = 142) had a median age of 34 years (range: 18-76) and were mostly female (64.8%), with extra-abdominal (76.8%) or intra-abdominal tumors (23.2%). The GODDESS symptom/impact scales showed internal consistency at baseline, cycles 4 and 7 (Cronbach's α > 0.70) and test-retest reliability (intra-class correlation coefficient > 0.85). GODDESS scales correlated moderately to highly with PRO measures capturing similar content and differentiated among PGIS and Eastern Cooperative Oncology Group groups. GODDESS scales detected improvement over time. For the total symptom score, a 1.30-point decrease was estimated as the within-person MCT and a 1.00-point decrease as the between-group MCT. For the physical functioning impact score, estimated within- and between-group MCTs were 0.60-point and 0.50-point decreases, respectively. Few participants exhibited symptom worsening.
CONCLUSION
GODDESS was found to be reliable, valid, responsive, and interpretable as a clinical trial endpoint in the pooled sample of DT/AF patients. Estimated MCTs can be used to define responders and assess group-level differences in future, unblinded, efficacy analyses.
TRIAL REGISTRATION NUMBER AND REGISTRATION DATE
NCT03785964; December 24, 2018.
Topics: Adolescent; Adult; Aged; Female; Humans; Male; Middle Aged; Young Adult; Cross-Sectional Studies; Fibromatosis, Aggressive; Psychometrics; Quality of Life; Reproducibility of Results; Surveys and Questionnaires
PubMed: 37347393
DOI: 10.1007/s11136-023-03445-7 -
The Oncologist 2013Mutations in the gene-encoding β-catenin, CTNNB1, are highly prevalent in sporadic desmoid tumors and may predict the risk for recurrence. We sought to determine the...
BACKGROUND
Mutations in the gene-encoding β-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 β-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.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Fibromatosis, Aggressive; Genotype; Humans; Male; Middle Aged; Mutation; Neoplasm Recurrence, Local; Prevalence; Young Adult; beta Catenin
PubMed: 23960186
DOI: 10.1634/theoncologist.2012-0449 -
Medicina 2020Desmoid-type fibromatosis (DF) is a tumor with high local recurrence rate. Sixteen patients (18 desmoid tumors) were retrospectively evaluated. Initial surgery was...
Desmoid-type fibromatosis (DF) is a tumor with high local recurrence rate. Sixteen patients (18 desmoid tumors) were retrospectively evaluated. Initial surgery was performed in 13/18 tumors, with complete resection in 6 (one with free margin and five with microscopic residual disease); 10/13 had local relapse. Eleven patients with 13 tumors underwent treatment with methotrexate-vinblastine. The response rate to chemotherapy was 54%, and up to 81% if stable disease cases were included. The best response was partial remission. Only 2 had grade 4 toxicity. Twelve of 15 patients had sequelae. In 8 cases sequelae were directly related to the surgical intervention and 3 of them were severe. The 5-year progression-free survival and overall survival were 30% and 93.3%, respectively. DF has a high local relapse rate, regardless of surgical margin involvement. Low dose chemotherapy achieved stable disease and even remission of the lesions with low toxicity. The high rate of sequelae is probably related to the initial surgery performed in the majority of patients and may be avoided by the use of neoadjuvant low dose chemotherapy.
Topics: Child; Fibromatosis, Aggressive; Follow-Up Studies; Gaucher Disease; Humans; Methotrexate; Neoplasm Recurrence, Local; Retrospective Studies
PubMed: 33048794
DOI: No ID Found -
Diagnostics (Basel, Switzerland) Aug 2020Cryoablation (CA) has gained popularity in the treatment of benign and malignant musculoskeletal tumors. While extra-abdominal desmoid (EAD) tumors are not malignant,...
Cryoablation (CA) has gained popularity in the treatment of benign and malignant musculoskeletal tumors. While extra-abdominal desmoid (EAD) tumors are not malignant, they remain challenging to treat because of their high local recurrence rate. We reviewed all EAD tumors treated with CA at our institution between November 2012 and March 2020. Fourteen procedures were performed on nine females and one male (mean age, 33 ± 18 years) as either first-line ( = 4) or salvage therapy ( = 6) with curative intent ( = 8) or tumor debulking ( = 2). Mean tumor size was 63.6 cm (range, 3.4-169 cm). Contrast-enhanced MRI was performed before treatment and at 3-, 6-, and 12-month follow-up. Treatment outcome was based on the change in enhanced tumor volume (ET-V). For curatively treated patients, the mean ET-V change was -97 ± 7%, -44 ± 143%, and +103 ± 312% at 3, 6, and 12 months, respectively. For debulking patients, the mean ET-V change was -98 ± 4%, +149 ± 364%, and +192 ± 353% at 3, 6, and 12 months, respectively. During a mean follow-up of 53.7 months (range, 12-83 months), one grade III and one grade IV complication were noted. We found CA to be safe and well tolerated in patients with EAD.
PubMed: 32759783
DOI: 10.3390/diagnostics10080556 -
Neurosurgery May 2021More effective therapies are needed to treat progressive desmoid tumors when active surveillance and systemic therapy fail.
BACKGROUND
More effective therapies are needed to treat progressive desmoid tumors when active surveillance and systemic therapy fail.
OBJECTIVE
To assess the efficacy and safety of sandwich isolation surgery on the local control of progressive desmoid tumors involving neurovascular bundles.
METHODS
A total of 27 patients with progressive desmoid tumors at extremities involving neurovascular bundles who received surgery at our hospital between August 2014 and August 2018 were identified. A total of 13 patients received sandwich isolation surgery, in which R2 resection was performed in neurovasculature-involving regions, and a biomaterial patch was used to envelop involved neurovascular structures and isolate residual tumors. In non-neurovasculature-involving regions, wide resection was performed without isolation. A total of 14 patients received traditional surgery, which included tumor resection without isolation procedure.
RESULTS
In sandwich isolation group, tumor progressions and local recurrences occurred in 3 patients outside the isolated neurovasculature-involving regions. However, no progressions or recurrences occurred in any patients in the isolated neurovasculature-involving regions where R2 resection was performed. Sandwich isolation surgery group and traditional surgery group shared similar baseline clinical characteristics. The estimated 3-yr event-free survival rate was 76.9% after sandwich isolation surgery, and 32.7% after traditional surgery (P = .025). Patients who received sandwich isolation surgery were less likely to have local recurrence (hazard ratio: 0.257, P = .040). No complications were noted except intermittent mild pain in operative regions (2 cases).
CONCLUSION
Sandwich isolation surgery is effective and safe for local control of desmoid tumors involving neurovascular bundles.
Topics: Adolescent; Adult; Fibromatosis, Aggressive; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasm, Residual; Progression-Free Survival; Radiotherapy, Adjuvant; Plastic Surgery Procedures; Retrospective Studies; Treatment Outcome
PubMed: 33556169
DOI: 10.1093/neuros/nyaa589 -
Cancer Medicine May 2022Desmoid tumors are rare neoplasms that are locally invasive. However, optimal treatment strategies for recurrent desmoid tumors remain controversial. High-intensity...
BACKGROUND
Desmoid tumors are rare neoplasms that are locally invasive. However, optimal treatment strategies for recurrent desmoid tumors remain controversial. High-intensity focused ultrasound (HIFU) has been reported as a noninvasive modality for treating recurrent desmoid tumors. However, its efficacy against massive desmoid tumors or those with complex anatomies remains unclear.
METHODS
We developed a new therapeutic strategy called low-power cumulative HIFU and applied it to treat recurrent desmoid tumors.
RESULTS
We retrospectively collected data from 91 patients with recurrent desmoid tumors who underwent low-power cumulative HIFU treatment after surgical treatment failure. The mean ablation proportion of the HIFU treatment was 69.5%, and the objective response rate was 47.3%. The 5-year estimated progression-free survival rate for these patients was 69.3%.
CONCLUSION
Low-power cumulative HIFU treatment could achieve significant efficacy and long-term control of recurrent desmoid tumors.
Topics: Data Collection; Fibromatosis, Aggressive; High-Intensity Focused Ultrasound Ablation; Humans; Progression-Free Survival; Retrospective Studies; Treatment Outcome
PubMed: 35274811
DOI: 10.1002/cam4.4573 -
European Journal of Cancer (Oxford,... Mar 2021Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in...
Previous studies have not clearly identified a prognostic factor for desmoid tumours (DT). Whole-exome sequencing (WES) and/or RNA sequencing (RNA-seq) were performed in 64 cases of DT to investigate the molecular profiles in combination with the clinicopathological characteristics. CTNNB1 mutations with specific hotspots were identified in 56 cases (87.5%). A copy number loss in chromosome 6 (chr6) was identified in 14 cases (21.9%). Clustering based on the mRNA expression profiles was predictive of the patients' prognoses. The risk score generated by the expression of a three-gene set (IFI6, LGMN, and CKLF) was a strong prognostic marker for recurrence-free survival (RFS) in our cohort. In risk groups stratified by the expression of IFI6, the hazard ratio for recurrence-free survival in the high-risk group relative to the low-risk group was 12.12 (95% confidence interval: 1.56-94.2; p = 8.0 × 10). In conclusion, CTNNB1 mutations and a chr6 copy number loss are likely the causative mutations underlying the tumorigenesis of DT while the gene expression profiles may help to differentiate patients who would be good candidates for wait-and-see management and those who might benefit from additional systemic or radiation therapies.
Topics: Adolescent; Adult; Aged; Biomarkers, Tumor; Chemokines; Child, Preschool; Chromosomes, Human, Pair 6; Cysteine Endopeptidases; DNA Mutational Analysis; Female; Fibromatosis, Aggressive; Gene Dosage; Gene Expression Profiling; Humans; MARVEL Domain-Containing Proteins; Male; Middle Aged; Mitochondrial Proteins; Mutation; Prognosis; RNA-Seq; Tokyo; Transcriptome; Exome Sequencing; Young Adult; beta Catenin
PubMed: 33444924
DOI: 10.1016/j.ejca.2020.12.001 -
Clinical Cancer Research : An Official... Sep 2022Determine whether specific CTNNB1 or APC mutations in patients with desmoid tumor were associated with differences in clinical responses to systemic treatments.
PURPOSE
Determine whether specific CTNNB1 or APC mutations in patients with desmoid tumor were associated with differences in clinical responses to systemic treatments.
EXPERIMENTAL DESIGN
We established a multi-institutional dataset of previously treated patients with desmoid tumor across four U.S. sarcoma centers, including demographic and clinicopathologic characteristics, treatment regimens, and clinical and radiographic responses. CTNNB1 or APC mutation status was determined from prior pathology records, or archival tissue was requested and analyzed by Sanger sequencing and/or next-generation sequencing. Evaluable patients with mutation results were analyzed to determine clinical progression-free survival (cPFS), RECIST 1.1 PFS (rPFS), time to next treatment (TTNT), and overall survival (OS). Kaplan-Meier analysis and Cox proportional hazards regression were performed to identify differences in cPFS, rPFS, TTNT, and OS by mutation subtype, desmoid tumor location, and treatment regimen.
RESULTS
A total of 259 evaluable patients were analyzed for at least one of the survival outcomes, with 177 patients having mutation data. First- and second-line cPFS, rPFS, and TTNT were not significantly affected by mutation subtype; however, APC-mutant desmoid tumors demonstrated nonstatistically significant inferior outcomes. Extremity/trunk desmoid tumor location and treatment with doxorubicin-based, methotrexate/vinca alkaloids and sorafenib regimens were associated with better clinical outcomes compared with surgery or "other" therapies, including estrogen-receptor blockade and imatinib. OS was significantly worse with APC or CTNNB1 negative/other mutations.
CONCLUSIONS
Mutation subtype did not affect responses to specific systemic therapies. APC mutations and nonextremity desmoid tumor locations remain prognostic for worse outcomes, and earlier initiation of systemic therapy for these higher-risk desmoid tumors should be prospectively evaluated. See related commentary by Greene and Van Tine, p. 3911.
Topics: Fibromatosis, Aggressive; High-Throughput Nucleotide Sequencing; Humans; Mutation; Prognosis; Retrospective Studies; beta Catenin
PubMed: 35180772
DOI: 10.1158/1078-0432.CCR-21-4504