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Annals of Plastic Surgery Oct 2015Desmoid tumors (DT) represent a group of rare, distinct lesions. There are few published studies examining outcomes and safety of complex reconstruction after DT... (Review)
Review
BACKGROUND
Desmoid tumors (DT) represent a group of rare, distinct lesions. There are few published studies examining outcomes and safety of complex reconstruction after DT resection.
METHODS
A retrospective review identified 39 patients who underwent surgical treatment of DT at St. Jude Children's Research Hospital over a 12-year period. A systematic review of the literature identified 17 further studies for inclusion. Treatment characteristics were analyzed.
RESULT
Thirty-nine patients were treated during the study period, with a total number of 67 resections. Median age was 12.2 years; 49% of patients were male, and 51% were female. Median tumor size was 9.8 cm. DT most commonly arose in the extremities (40%), thorax (23%), head and neck (21%), and trunk (16%). One- and 5-year recurrence-free survival were 97.1% and 73.1%, respectively. The majority of defects were closed primarily, with the exception of head and neck defects. Long-term outcomes were good for chest, abdomen, and upper extremity defects, but were problematic for head and neck, breast, and lower extremity defects. There were no recurrences at the site of flap harvest in either the study population or in reviewed studies.
CONCLUSION
For patients with DT, surgical extirpation should not come at the expense of functional preservation, as overall survival is excellent. However, specific defects, including those of the lower extremity, breast, and head and neck, will benefit from improved techniques for resection and reconstruction.
Topics: Adolescent; Child; Child, Preschool; Female; Fibromatosis, Aggressive; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Plastic Surgery Procedures; Retrospective Studies; Survival Analysis; Treatment Outcome; Young Adult
PubMed: 26360656
DOI: 10.1097/SAP.0000000000000129 -
Cancer Dec 2020Desmoid tumors (DTs) are a rare disease of intermediate malignancy characterized histologically by a locally aggressive, monoclonal, fibroblastic proliferation and... (Review)
Review
Desmoid tumors (DTs) are a rare disease of intermediate malignancy characterized histologically by a locally aggressive, monoclonal, fibroblastic proliferation and clinically by a variable and often unpredictable course. For decades, surgical resection has been the standard initial treatment approach; however, more recently, a paradigm shift toward a more conservative treatment strategy has been introduced. More than 5 years ago, The Desmoid Tumor Working Group started a consensus initiative in Europe with the aim of harmonizing the strategy among clinicians and setting up treatment recommendations for patients with DTs. This review summarizes the latest joint, global, evidence-based guideline approach to DT management. Moreover, a number of gray areas in the treatment recommendations are discussed, and possible future perspectives on the treatment armamentarium for patients with DTs are presented.
Topics: Clinical Trials as Topic; Consensus; Evidence-Based Medicine; Fibromatosis, Aggressive; Humans; Practice Guidelines as Topic
PubMed: 33022074
DOI: 10.1002/cncr.33233 -
Evaluation of diagnostic algorithm and therapeutic interventions for intra-abdominal desmoid tumors.Surgical Oncology May 2022Desmoid-type fibromatosis (DF) is a distinctly rare condition, mostly of younger adults, characterized by the development of locally aggressive tumors of mesenchymal... (Review)
Review
Desmoid-type fibromatosis (DF) is a distinctly rare condition, mostly of younger adults, characterized by the development of locally aggressive tumors of mesenchymal origin. Desmoid tumors (DT) arise either sporadically or in association with FAP (familial adenomatous polyposis), although certain risk factors have also been identified, including pregnancy and antecedent surgical trauma. They can emerge from any connective tissue including muscle, fascia and aponeurosis and are therefore classified, according to location, as intra-abdominal, of the abdominal wall and extra-abdominal. Despite the lack of metastasizing potential, the course can be unpredictable. Various mutations of APC and β-catenin genes, among others, play a catalytic role in the pathogenesis of this neoplastic entity. Surgery has lost its traditional role as first line treatment of the disease and several other treatment methods are being considered. Cytotoxic chemotherapy, non-cytotoxic systemic therapy and targeted therapy have been revealed as part of different treatment regimens. Recent progress regarding DT biology and molecular pathways has led to the development of promising novel biological agents. In any case, a multidisciplinary approach is required and is gradually employed, espe-cially in intra-abdominal DTs. In this review, we aim to present current knowledge on DF and summarize current treatment regimens as well as their effectiveness, with emphasis on the intraperitoneal type of DT.
Topics: Adenomatous Polyposis Coli; Adult; Algorithms; Female; Fibromatosis, Aggressive; Humans; Mutation; Pregnancy; Risk Factors
PubMed: 35217286
DOI: 10.1016/j.suronc.2022.101724 -
PloS One 2021Desmoid tumor is a locally-invasive neoplasm that causes significant morbidity. There is recent interest in cryotherapy for treatment of extra-abdominal desmoid tumors.... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Desmoid tumor is a locally-invasive neoplasm that causes significant morbidity. There is recent interest in cryotherapy for treatment of extra-abdominal desmoid tumors. This systematic review assesses evidence on safety and efficacy of cryotherapy in the treatment of extra-abdominal desmoid tumors.
MATERIALS AND METHODS
The systematic review was conducted with reference to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. Literature search was performed using MEDLINE and the Cochrane Central Register of Controlled Trials. 9 full text papers were reviewed and meta-analysis was performed for measures of safety, efficacy and symptom relief.
RESULTS
The estimated pooled proportion of major and minor complications was 4.2% (95% CI, 1.8-9.6; I 2 = 0%) and 10.2% (95% CI, 5.7-17.8; I 2 = 0%) respectively. The estimated pooled proportion of non-progressive disease rate of all studies was 85.8% (95% CI, 73.4-93.0; I 2 = 32.9%). The estimated progression free survival rate at 1 year was 84.5% (95% CI:74.6-95.8) and 78.0% at 3 years (95% CI: 63.8-95.3). As for pain control, the estimated pooled proportion of patients with decrease in visual analogue scale (VAS) > = 3 for those with VAS > = 3 before treatment for 2 studies was 87.5% (95% CI, 0.06-100; I 2 = 71.5%) while 37.5% to 96.9% of patients were reported to have experienced partial or complete symptom relief in the other studies.
CONCLUSION
Cryotherapy is a safe and effective treatment modality for extra-abdominal desmoid tumors with efficacy similar to those treated with traditional strategies in the short to medium term.
Topics: Cryotherapy; Fibromatosis, Aggressive; Humans; Progression-Free Survival; Treatment Outcome
PubMed: 34941915
DOI: 10.1371/journal.pone.0261657 -
Expert Review of Anticancer Therapy 2015Desmoid tumors, or aggressive fibromatosis, are rare, locally infiltrative neoplasms caused by mutations that activate β-catenin. Although these tumors do not... (Review)
Review
Desmoid tumors, or aggressive fibromatosis, are rare, locally infiltrative neoplasms caused by mutations that activate β-catenin. Although these tumors do not metastasize, they are difficult to manage due to variability in tumor presentation and behavior. A variety of treatment options exist, including surgery, radiotherapy, chemotherapy, hormone therapy, isolated limb perfusion, cryoablation and tyrosine kinase inhibitors. Treatment-induced morbidity and poor local control rates, combined with spontaneous stabilization of some desmoid tumors, have allowed watchful waiting to recently emerge as a front-line management option. This has emphasized the need to better understand tumor behavior in order to differentiate between tumors that may stabilize and those that may progress. Here, we review the most recent findings in desmoid tumor biology and treatment options for this enigmatic disease.
Topics: Animals; Antineoplastic Agents; Disease Progression; Fibromatosis, Aggressive; Humans; Mutation; Treatment Outcome; beta Catenin
PubMed: 26472625
DOI: 10.1586/14737140.2015.1096203 -
Cambridge Quarterly of Healthcare... Jul 2017
Topics: Fibromatosis, Aggressive; Humans; Kidney Neoplasms; Living Donors; Physician-Patient Relations; Social Support
PubMed: 28541175
DOI: 10.1017/S0963180116001201 -
European Archives of... Jun 2024Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics. (Review)
Review
PURPOSE
Desmoid fibromatosis in head and neck is infrequent and poses a significant challenge to the clinicians due to its non-specific characteristics.
METHODS
This case report focuses on a 69-year-old male who presented to a tertiary healthcare center in Karnataka, India with a swelling in the oral cavity.
RESULTS
Despite initial suspicions of malignancy based on clinical examination and findings on computed tomography imaging, subsequent histopathology and immunohistochemistry revealed an unexpected finding.
CONCLUSION
The case highlights the importance of clinical suspicion and histopathological evaluation as well as the need for greater awareness to facilitate early diagnosis and appropriate management of desmoid fibromatosis. We also present a literature review of varied presentations of desmoid tumors afflicting various subsites of the head and neck.
Topics: Humans; Male; Fibromatosis, Aggressive; Aged; Diagnosis, Differential; Tomography, X-Ray Computed; Mouth Neoplasms; Immunohistochemistry
PubMed: 38530459
DOI: 10.1007/s00405-024-08558-4 -
Journal of Pediatric Surgery Oct 2017We present our long experience with desmoid tumors in children. (Review)
Review
BACKGROUND/PURPOSE
We present our long experience with desmoid tumors in children.
METHODS
Data were retrospectively collected from 17 children/adolescents treated for sporadic desmoid tumors at a tertiary pediatric hospital in 1988-2016. There were 10 girls and 7 boys aged 1-17years. Tumor sites included head and neck, trunk, extremity, and groin. Eight patients underwent radical resection, with complete remission in 7 and local relapse in one which was treated with chemotherapy. Four patients underwent incomplete surgical resection, three with adjuvant chemotherapy. Five patients underwent biopsy only and chemotherapy. Two of the 9 chemotherapy-treated patients also had intraarterial chemoembolization. Chemotherapy usually consisted of vincristine and actinomycin-D with or without cyclophosphamide or low-dose vinblastine and methotrexate. Two patients also received tamoxifen.
RESULTS
After a median follow-up of 3.3years, 10 patients were alive in complete remission, 5 had stable disease, and 2 had reduced tumor size. Five-year overall survival was 100%, and event-free survival, 87.5%. Ten were screened for CTNNB1 mutations. CTNNB1 gene sequencing yielded mutations in 5/10 samples tested: 3 T41A, 2 S45F. There was no association of CTNNB1 mutation with clinical outcome or prognosis.
CONCLUSION
Pediatric desmoid tumors are rare, with variable biologic behavior and morbidity. Treatment requires a multidisciplinary approach.
LEVEL OF EVIDENCE
LEVEL IV, treatment study.
Topics: Adolescent; Antineoplastic Combined Chemotherapy Protocols; Disease-Free Survival; Female; Fibromatosis, Aggressive; Humans; Male; Retrospective Studies; Treatment Failure
PubMed: 28209418
DOI: 10.1016/j.jpedsurg.2017.01.068 -
The Surgical Clinics of North America Jun 2020Soft tissue tumors of the abdomen and retroperitoneum encompass a wide range of benign and malignant neoplasms. Retroperitoneal sarcomas, the most common, are composed... (Review)
Review
Soft tissue tumors of the abdomen and retroperitoneum encompass a wide range of benign and malignant neoplasms. Retroperitoneal sarcomas, the most common, are composed of rare malignancies with numerous histiotypes. Surgery remains the cornerstone of treatment and the only curative option for retroperitoneal sarcomas. With histiotype-dependent local and distant recurrences, it is imperative these cases are discussed in a multidisciplinary tumor board setting at specialized sarcoma centers. This review discusses the current evidence for the management of abdominal and retroperitoneal soft tissue tumors, with particular focus on retroperitoneal sarcomas and desmoid tumors.
Topics: Abdominal Neoplasms; Combined Modality Therapy; Fibromatosis, Aggressive; Humans; Interdisciplinary Communication; Intersectoral Collaboration; Retroperitoneal Neoplasms; Sarcoma; Soft Tissue Neoplasms
PubMed: 32402307
DOI: 10.1016/j.suc.2020.02.011 -
American Society of Clinical Oncology... Mar 2021Breast sarcomas arise from connective tissues of the breast and account for fewer than 1% of all breast malignancies. They can be subclassified as primary breast...
Breast sarcomas arise from connective tissues of the breast and account for fewer than 1% of all breast malignancies. They can be subclassified as primary breast sarcomas, which arise de novo and are histologically diverse, and secondary breast sarcomas, which arise as a result of radiation or lymphedema and are most commonly angiosarcomas. Two other connective tissue neoplasms that occur within the breast include phyllodes tumors and desmoid tumors, which exhibit a spectrum of behaviors. Malignant phyllodes tumors are biologically similar to primary breast sarcomas, whereas desmoid tumors are technically benign but often locally aggressive. Patients with breast sarcomas often present with a rapidly growing mass or, in cases of radiation-associated angiosarcoma, violaceous cutaneous lesions. Core needle biopsy is generally required to confirm the diagnosis of sarcomas. Staging workup includes MRI and chest imaging, although these are not required in the case of benign phyllodes or desmoid tumors. In general, localized breast sarcomas should be resected, with the extent of resection tailored to histologic subtype. Radiation and chemotherapy can be used in the neoadjuvant or adjuvant setting, but data are limited, so treatment decisions should be made on an individualized basis. Systemic therapy options for metastatic disease and refractory breast desmoids mimic those used for the same histologies when present in other sites. Given the rarity and heterogeneity of breast sarcoma, as well as limited literature describing these entities, expert multidisciplinary evaluation is crucial for optimal decision making.
Topics: Breast Neoplasms; Female; Fibromatosis, Aggressive; Humans; Phyllodes Tumor; Sarcoma; Soft Tissue Neoplasms
PubMed: 34010054
DOI: 10.1200/EDBK_321341