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Advances in Therapy Sep 2023Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent... (Review)
Review
Desmoid tumors (DT) are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and can affect organs and adjacent structures, resulting in substantial clinical burden impacting patients' health-related quality of life. Searches of PubMed, Embase, Cochrane, and key conferences were conducted in November 2021 and updated periodically through March 2023 to identify articles describing the burden of DT. Of 651 publications identified, 96 relevant ones were retained. Diagnosis of DT is challenging because of its morphologic heterogeneity and variable clinical presentation. Patients visit multiple healthcare providers, often facing delays in correct diagnosis. The low incidence of DT (estimated 3-5 cases per million person-years) limits disease awareness. Patients with DT experience a high symptom burden: up to 63% of patients experience chronic pain, which leads to sleep disturbance (73% of cases), irritability (46% of cases), and anxiety/depression (15% of cases). Frequently mentioned symptoms are pain, limited function and mobility, fatigue, muscle weakness, and swelling around the tumor. Overall, quality of life in patients with DT is lower than in healthy controls. There is no treatment approved by the US Food and Drug Administration for DT; however, treatment guidelines reference available options, such as active surveillance, surgery, systemic therapy, and locoregional therapy. Choice of active treatment may depend on tumor location, symptoms, and risk of morbidity. The substantial burden of illness of DT is related to difficulties in timely and accurate diagnosis, high symptom burden (pain and functional limitations), and decreased quality of life. There is a high unmet need for treatments that specifically target DT and improve quality of life.
Topics: Humans; Fibromatosis, Aggressive; Quality of Life; Pain
PubMed: 37436594
DOI: 10.1007/s12325-023-02592-0 -
Current Opinion in Oncology Jul 2022The objective of this article is to summarize new treatment strategies of desmoid tumors. (Review)
Review
PURPOSE OF REVIEW
The objective of this article is to summarize new treatment strategies of desmoid tumors.
RECENT FINDINGS
Desmoid tumor has an unpredictable evolution that may spontaneously regress or stabilize. A shift toward an initial frontline active surveillance has been acknowledged by experts. Surveillance monitoring should be performed frequently after the diagnosis to avoid missing a significant progression and then spaced in case of stabilization. Treatment is based on significant tumor growth or symptoms. Recent guidelines recommend commencing medical treatment. Kinase inhibitors and cytotoxic agents are the two classes of drugs where studies included progressive desmoid tumors and should be selected to guide medical practice. In a randomized trial, 2 years progression-free survival (PFS) was significantly better in the sorafenib group (81 versus 36% in the placebo group). In another randomized phase 2, 6 months PFS was 83.7% with pazopanib versus 45% with methotrexate and vinblastine. In a retrospective study, including progressive desmoid tumors, methotrexate + vinca alkaloids achieved 75 months median PFS. Cryotherapy is an alternative option in desmoid tumors with compatible locations and tumor sizes. Following medical treatment or cryotherapy failure, superficial sites represent the best indications for surgery in cases of continuous progression. In the event of a contra-indication or failure of medical treatment, in locations where surgery would be mutilating and incomplete, radiotherapy is an effective option.
SUMMARY
Active surveillance with planned imaging has become the first-line management in desmoid tumor.
Topics: Clinical Trials, Phase II as Topic; Fibromatosis, Aggressive; Humans; Methotrexate; Progression-Free Survival; Randomized Controlled Trials as Topic; Retrospective Studies; Vinblastine
PubMed: 35837705
DOI: 10.1097/CCO.0000000000000854 -
Surgical Oncology Clinics of North... Jul 2022The management of desmoid tumors (DT) is shifting toward conservative and patient-tailored strategies. Active surveillance is currently considered the first line of... (Review)
Review
The management of desmoid tumors (DT) is shifting toward conservative and patient-tailored strategies. Active surveillance is currently considered the first line of treatment for most DT patients, according to international guidelines. When active treatment is required, several systemic and local treatments are considered. The choice of the first-line systemic therapy and the management of recurrence still represent a therapeutic challenge, for which well-defined and shared guidelines are lacking. Such issues represent the next challenge for The Desmoid Tumor Working Group.
Topics: Fibromatosis, Aggressive; Humans
PubMed: 35715144
DOI: 10.1016/j.soc.2022.03.008 -
Current Treatment Options in Oncology Feb 2024Desmoid tumors are rare tumors with a tendency to infiltrate locally. The lack of a standard treatment approach makes choosing the most appropriate treatment for... (Review)
Review
Desmoid tumors are rare tumors with a tendency to infiltrate locally. The lack of a standard treatment approach makes choosing the most appropriate treatment for patients challenging. Most experts recommend watchful observation for asymptomatic patients as spontaneous regression of tumor is observed in up to 20% of patients. Upfront resection of the desmoid tumor has fallen out of favor due to high morbidity and high relapse rates associated with the tumor. Systemic therapy has evolved over several decades. Where chemotherapy, hormonal therapy, and non-steroidal anti-inflammatory drugs were used over the last several decades, tyrosine kinase inhibitors came to the forefront within the last decade. Most recently, gamma-secretase inhibitors have shown significant clinical benefit in patients with desmoid tumors, bringing forth an entirely new mechanistic approach. Several Wnt pathway inhibitors are also under development. Invasive approaches like cryoablation have also shown clinical benefit in patients with extra-abdominal desmoid tumors in recent years. The recent approval of nirogacestat has ushered in a new era of treatment for patients diagnosed with desmoid tumors. Several new molecules are expected to be approved over the coming years.
Topics: Humans; Fibromatosis, Aggressive; Retrospective Studies; Neoplasm Recurrence, Local
PubMed: 38270798
DOI: 10.1007/s11864-024-01177-5 -
Current Opinion in Oncology Jul 2023Desmoid tumor is a rare disease of intermediate malignancy characterized by a locally aggressive monoclonal, fibroblastic proliferation and accompanied by a variable and... (Review)
Review
PURPOSE OF REVIEW
Desmoid tumor is a rare disease of intermediate malignancy characterized by a locally aggressive monoclonal, fibroblastic proliferation and accompanied by a variable and often unpredictable clinical course. The purpose of this review is to give an overview on the emerging new systemic treatment options for this intriguing disease for which no established or approved drugs are available yet.
RECENT FINDINGS
Over decades, surgical resection has been the established initial treatment approach; however, more recently, a paradigm shift has been introduced towards a more conservative treatment strategy. Almost 10 years ago, The Desmoid Tumor Working Group has initiated a consensus process initially in Europe and then globally with the intention to harmonize the therapeutic strategy amongst clinicians and set up management recommendations for desmoid tumor patients.
SUMMARY
This review will summarize and focus on the latest emerging impressive data on the use of gamma secretase inhibitors in this disease paving a possible future perspective in the treatment armamentarium for desmoid tumor patients.
Topics: Humans; Fibromatosis, Aggressive; Combined Modality Therapy; Consensus
PubMed: 37222208
DOI: 10.1097/CCO.0000000000000953 -
Gaceta Medica de Mexico 2020A literature review on desmoid tumors was carried out, which are tumors that affect soft tissues with a locally aggressive behavior and are unable to metastasize.... (Review)
Review
A literature review on desmoid tumors was carried out, which are tumors that affect soft tissues with a locally aggressive behavior and are unable to metastasize. Sporadic cases are located on the extremities and chest wall; hereditary cases have an intra-abdominal predilection, and those associated with pregnancy occur on the abdominal wall. Imaging techniques assess disease extension. Trucut biopsy is the study of choice for diagnosis. Mutations in the CTNNB1 or APC genes cause an abnormal accumulation of b-catenin within the cell. In this review, an emphasis is made on therapeutic strategies' evolution and change, and current tools for decision making are analyzed, as well as clinical outcomes. Radiation therapy can play a therapeutic or adjuvant role. Advances in the understanding of the disease have allowed establishing better targeted treatments with lower morbidity; however, there are still unanswered questions regarding the choice of the ideal candidate for surveillance and/or early treatment. Data related to quality of life are also presented, as well as the uncertainty generated by this diagnosis for both doctor and patient.
Topics: Anti-Inflammatory Agents; Antineoplastic Agents; Biopsy; Clinical Decision-Making; Female; Fibromatosis, Aggressive; Humans; Male; Quality of Life; Radiotherapy; Uncertainty; beta Catenin
PubMed: 33372933
DOI: 10.24875/GMM.M20000440 -
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 -
Current Treatment Options in Oncology Aug 2000Because of the wide variety of anatomic locations and patient factors, there is no one treatment that is appropriate for all desmoid tumors. The type of treatment... (Review)
Review
Because of the wide variety of anatomic locations and patient factors, there is no one treatment that is appropriate for all desmoid tumors. The type of treatment depends on tumor characteristics and location, as well as patient characteristics and preferences. Desmoid tumors can be persistent and frustrating to manage because no one treatment modality offers a high likelihood of remission. Multiple modalities may be necessary in some patients. Although mortality is rare and is usually due to local complications, significant disability or morbidity can result from desmoid tumors, their treatment, and complications arising from treatment. The entire clinical picture and the patient's preferences must be taken into account when deciding on an appropriate treatment plan. Patients with desmoid tumors are optimally managed in a multidisciplinary setting with close collaboration between surgeon, pathologist, diagnostic radiologist, radiation oncologist, and medical oncologist. When possible, surgical resection with negative margins is the preferred modality. When surgical resection with negative margins may prove disabling, surgery can be followed by postoperative radiation, although the role and efficacy of this are controversial. In locations where surgical extirpation is difficult or unfeasible, primary radiation, hormonal therapy, or chemotherapy should be considered. Familiar adenosis polyposis (FAP)-associated mesenteric lesions, sporadic tumors present without change for months or years, or tumors present in areas where progression will not present significant additional morbidity are candidates for observation only.
Topics: Antineoplastic Agents; Clinical Trials as Topic; Combined Modality Therapy; Fibromatosis, Aggressive; Humans; Radiotherapy; Survival Rate
PubMed: 12057169
DOI: 10.1007/s11864-000-0038-5 -
International Journal of Pediatric... Jan 2021Pediatric head and neck desmoid tumors are rare neoplasms that can cause significant morbidity due to infiltration of vital anatomic structures. The goal of this study... (Review)
Review
INTRODUCTION
Pediatric head and neck desmoid tumors are rare neoplasms that can cause significant morbidity due to infiltration of vital anatomic structures. The goal of this study is to review presentation, evaluation, and management of these tumors.
METHODS
Retrospective study of children with head and neck desmoid tumors treated from 1999 to 2018 and literature review.
RESULTS
11 patients (5 boys, 6 girls) were included. Presentation included firm neck mass (n = 8), trismus (n = 2) and tongue lesion (n = 1). All patients had preoperative imaging with CT (n = 2), MRI (n = 1) or both (n = 8). Five patients underwent needle biopsy, five had open biopsy and one was diagnosed on pathology from primary excision. Seven patients were treated by primary surgical resection, with positive surgical margins in six cases due to proximity to vital neurovascular structures. None needed chemotherapy, had disease recurrence or progression. Three patients with unresectable disease were treated with chemotherapy. One patient was monitored with imaging without any treatment and did not have disease progression. Follow-up ranged from 6 months to 6 years (median 21 months). Ten patients (7 surgical, 2 chemotherapy, 1 observation) were either disease-free or had stable disease at last follow-up.
CONCLUSION
Pediatric head and neck desmoid tumors, though rare and histologically benign, are locally infiltrative and aggressive. When feasible, surgical treatment results in good disease control despite positive margins. A balance between achieving negative margins and minimizing functional deficits should be considered. Chemotherapy can be successfully utilized in patients where surgery entails a high risk of morbidity and mortality.
Topics: Child; Female; Fibromatosis, Aggressive; Head and Neck Neoplasms; Humans; Male; Neoplasm Recurrence, Local; Retrospective Studies; Trismus
PubMed: 33271436
DOI: 10.1016/j.ijporl.2020.110511 -
Surgical Oncology Aug 2007Desmoid tumors are rare, benign, fibromatous lesions that are the result of abnormal proliferation of myofibroblasts. Desmoid tumors can be classified as extra-abdominal... (Review)
Review
Desmoid tumors are rare, benign, fibromatous lesions that are the result of abnormal proliferation of myofibroblasts. Desmoid tumors can be classified as extra-abdominal and abdominal. Abdominal desmoid tumors are either superficial or intraabdominal. These tumors are associated with a high recurrence rates, even if their microscopic characters indicate a benign disease; their biologic behavior often indicates rather a "malignant" disease, which can cause even the death. Intraabdominal desmoid tumors can engulf surrounding viscera and vessels, thereby greatly complicating their surgical treatment. Management is multidisciplinary. Simple observation is a reasonable management option for asymptomatic patients; spontaneous regression of these tumors may be observed. Complete excision is the treatment of choice for tumors causing symptoms or complications. Surgery should be minimized as much as feasible, while at the same time achieving free margins. Adjuvant therapy should be considered in selected cases; the role of other management options (including gene transfer therapy) is currently under intensive investigation.
Topics: Abdominal Neoplasms; Algorithms; Diagnosis, Differential; Diagnostic Imaging; Fibromatosis, Aggressive; Genetic Testing; Humans; Medical History Taking
PubMed: 17719772
DOI: 10.1016/j.suronc.2007.07.009