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Current Opinion in Oncology Jul 2017To summarize the current knowledge about the biology and clinical management of adult desmoid tumors. (Review)
Review
PURPOSE OF REVIEW
To summarize the current knowledge about the biology and clinical management of adult desmoid tumors.
RECENT FINDINGS
In the past decade, we have learned that desmoid tumors are driven by alterations of the Wnt/APC/β-catenin pathway, sporadic desmoid tumors are associated with somatic mutations of CTNNB1, and germline mutations of APC and somatic mutations of CTNNB1 are probably mutually exclusive. One-third of desmoid tumors are misdiagnosed; a second pathological opinion is therefore of major importance for desmoid tumor. Surgery is no longer regarded as the cornerstone of desmoid tumors; several retrospective studies have demonstrated the safety of a 'wait and see' policy in sporadic abdominal wall desmoid tumor. Desmoid tumors is no longer regarded as an absolute contraindication for pregnancy. At least two new investigational drugs targeting the Wnt/APC/β-catenin pathway are currently being developed.
SUMMARY
The management of desmoid tumors requires multidisciplinary expertise by an experienced team. We must fully understand the physiopathology of the disease (factors influencing the natural history of the disease) and learn how to avoid desmoid tumors occurrence in patients with APC germline mutations, identify reliable prognostic/predictive factors and better assess the efficacy of systemic treatment.
Topics: Adult; Fibromatosis, Aggressive; Humans
PubMed: 28489620
DOI: 10.1097/CCO.0000000000000374 -
Ear, Nose, & Throat Journal Sep 2021
Topics: Female; Fibromatosis, Aggressive; Head and Neck Neoplasms; Humans; Male; Medical Illustration; Mutation; beta Catenin
PubMed: 31760797
DOI: 10.1177/0145561319890151 -
Cancers Aug 2020The desmoid tumor is a locally aggressive proliferative disease within the family of soft-tissue sarcomas. Despite its relatively good prognosis, the clinical management... (Review)
Review
The desmoid tumor is a locally aggressive proliferative disease within the family of soft-tissue sarcomas. Despite its relatively good prognosis, the clinical management of desmoid tumors requires constant multidisciplinary evaluation due to its highly variable clinical behavior. Recently, active surveillance has being regarded as the appropriate strategy at diagnosis, as indolent persistence or spontaneous regressions are not uncommon. Here, we review the most recent advances in desmoid tumor therapy, including low-dose chemotherapy and treatment with tyrosine kinase inhibitors. We also explore the recent improvements in our knowledge of the molecular biology of this disease, which are leading to clinical trials with targeted agents.
PubMed: 32752153
DOI: 10.3390/cancers12082135 -
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 -
Annals of Oncology : Official Journal... Mar 2012Desmoid tumors (DTs) are histologically benign proliferations of stromal cells but may grow locally aggressive. Overall, DTs are rare (0.03% of all neoplasms). A... (Review)
Review
Desmoid tumors (DTs) are histologically benign proliferations of stromal cells but may grow locally aggressive. Overall, DTs are rare (0.03% of all neoplasms). A minority of DTs is associated with Gardner syndrome and mutations of the familial adenomatous polyposis (FAP) gene. Most spontaneous DTs are associated with mutations of the beta-catenin gene. This mutation results in the activation of Wnt/catenin signaling. Due to their variable clinical presentation and behavior, no standard approach for DTs can be recommended. In most cases of DTs of the extremities surgical extirpation is indicated, whereas in many other cases, a multimodal and multidisciplinary concept should be followed. In this review article, we discuss the diagnosis, pathogenesis, and treatment options for DTs, including targeted therapy with tyrosine kinase inhibitors.
Topics: Fibromatosis, Aggressive; Humans
PubMed: 21859899
DOI: 10.1093/annonc/mdr386 -
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 -
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 -
Journal of Surgical Oncology May 2008Fibrous tumors represent a diverse subtype of soft tissue tumors and can represent benign conditions as well as frankly malignant sarcomas. Desmoid tumors and... (Review)
Review
Fibrous tumors represent a diverse subtype of soft tissue tumors and can represent benign conditions as well as frankly malignant sarcomas. Desmoid tumors and dermatofibrosarcoma protuberans are more difficult to classify and tend to be considered in the intermediate risk category. They are distinct entities, but both are locally aggressive processes which are plagued with attendant morbidity and high recurrence rates. Complete surgical resection is the mainstay of treatment.
Topics: Fibromatosis, Aggressive; Fibrosarcoma; Humans
PubMed: 18425778
DOI: 10.1002/jso.20981 -
Journal of Clinical Oncology : Official... Jan 2018In this review, we highlight the complexities of the natural history, biology, and clinical management of three intermediate connective tissue tumors: desmoid tumor (DT)... (Review)
Review
In this review, we highlight the complexities of the natural history, biology, and clinical management of three intermediate connective tissue tumors: desmoid tumor (DT) or aggressive fibromatosis, tenosynovial giant cell tumor (TGCT) or diffuse-type pigmented villonodular synovitis (dtPVNS), and giant cell tumor of bone (GCTB). Intermediate histologies include tumors of both soft tissue and bone origin and are locally aggressive and rarely metastatic. Some common aspects to these tumors are that they can be locally infiltrative and/or impinge on critical organs, which leads to disfigurement, pain, loss of function and mobility, neurovascular compromise, and occasionally life-threatening consequences, such as mesenteric, bowel, ureteral, and/or bladder obstruction. DT, PVNS, and GCTB have few and recurrent molecular aberrations but, paradoxically, can have variable natural histories. A multidisciplinary approach is recommended for optimal management. In DT and PVNS, a course of observation may be appropriate, and any intervention should be guided by symptoms and/or disease progression. A surgical approach should take into consideration the infiltrative nature, difficulty in obtaining wide margins, high recurrence rates, acute and chronic surgical morbidities, and impact on quality of life. There are similar concerns with radiation, which especially relate to optimal field and transformation to high-grade radiation-associated sarcomas. Systemic therapies must be considered carefully in light of acute and chronic toxicities. Although standard and novel therapies are promising, many unanswered questions, such as duration of therapy and optimal end points to evaluate efficacy of drugs in clinical practice and trials, exist. Predictive biomarkers and novel clinical trial end points, such as volumetric measurement, magnetic resonance imaging T2 weighted mapping, nuclear imaging, and patient-reported outcomes, are in development and will require validation in prospective trials.
Topics: Bone Neoplasms; Fibromatosis, Aggressive; Giant Cell Tumor of Bone; Giant Cell Tumor of Tendon Sheath; Humans; Magnetic Resonance Imaging; Neoplasms, Connective Tissue; Outcome Assessment, Health Care; Quality of Life
PubMed: 29220303
DOI: 10.1200/JCO.2017.75.8482 -
The Oncologist 2011Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically... (Review)
Review
Desmoid tumors describe a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Although histologically benign, desmoids are locally invasive and associated with a high local recurrence rate, but lack metastatic potential. On the molecular level, desmoids are characterized by mutations in the β-catenin gene, CTNNB1, or the adenomatous polyposis coli gene, APC. Proof of a CTNNB1 mutation may be useful when the pathological differential diagnosis is difficult and location might be predictive for disease recurrence. Many issues regarding the optimal treatment of patients with desmoids remain controversial; however, surgery is the therapeutic mainstay, except if mutilating and associated with considerable function loss. Postoperative radiotherapy reduces the local recurrence rate, in cases of involved surgical margins. Because of the heterogeneity of the biological behavior of desmoids, including long periods of stable disease or even spontaneous regression, treatment needs to be individualized to optimize local tumor control and preserve patients' quality of life. Therefore, the application of a multidisciplinary assessment with multimodality treatment forms the basis of care for these patients. Watchful waiting may be the most appropriate management in selected asymptomatic patients. Patients with desmoids located at the mesentery or in the head and neck region could present with life-threatening complications and often need more aggressive treatment. This review describes treatment options and management strategies for patients with desmoid tumors with a focus on advanced disease.
Topics: Adenomatous Polyposis Coli Protein; Combined Modality Therapy; DNA Mutational Analysis; Diagnosis, Differential; Fibromatosis, Abdominal; Fibromatosis, Aggressive; Humans; Mesentery; Neoplasm Staging; beta Catenin
PubMed: 21478276
DOI: 10.1634/theoncologist.2010-0281