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Current Opinion in Oncology Jul 2021Desmoid-type fibromatosis, a rare locally aggressive fibroblastic proliferation, is a treatment challenge. This review aimed to explore recent data about the management... (Review)
Review
PURPOSE OF REVIEW
Desmoid-type fibromatosis, a rare locally aggressive fibroblastic proliferation, is a treatment challenge. This review aimed to explore recent data about the management of desmoid-type fibromatosis.
RECENT FINDINGS
New data underline the role of kinases and ɣ-secretase in stimulating cell proliferation and invasiveness in desmoid-type fibromatosis. This explains the proven activity of multikinase inhibitors (sorafenib or pazopanib) in the management of desmoid-type fibromatosis or the emerging role of a ɣ-secretase inhibitor. An international guideline for management was recently published, and this guideline take into account patient point of view. Lastly, recent studies highlight the multidimensional burden of desmoid-type fibromatosis, particularly health-related quality of life (HRQoL).
SUMMARY
Active surveillance with planned MRI is the first-line management in desmoid-type fibromatosis. A site-specific and stepwise approach should be considered for progressive desmoid-type fibromatosis. Further, a risk-benefit analysis that considers the side effects and long-term sequelae should be conducted before deciding to start any treatment. A less aggressive approach should be considered. Multikinase inhibitors are effective, but their tolerability and side effects should be discussed with the patients. The symptoms and HRQoL should be integrated in decision-making. Desmoid-type fibromatosis patients should be offered support to address their needs supportive care.
Topics: Amyloid Precursor Protein Secretases; Enzyme Inhibitors; Fibromatosis, Aggressive; Humans; Practice Guidelines as Topic; Protein Kinases; Randomized Controlled Trials as Topic
PubMed: 33973549
DOI: 10.1097/CCO.0000000000000743 -
The Surgical Clinics of North America Aug 2022Desmoid fibromatosis is a rare disease caused by genetic alterations that activate β-catenin. The tumors were previously treated with aggressive surgeries but do not... (Review)
Review
Desmoid fibromatosis is a rare disease caused by genetic alterations that activate β-catenin. The tumors were previously treated with aggressive surgeries but do not metastasize and may regress spontaneously. For these reasons, in the absence of symptoms and when growth would not induce significant complications, active observation is considered first-line therapy. When intervention is required, surgery can be considered based on anatomy and risk of postoperative recurrence, but increasingly nonoperative therapies such as liposomal doxorubicin or sorafenib are prescribed. Cryoablation, chemoembolization, and high-intensity focused ultrasound can also be used to obtain local control in selected patients.
Topics: Fibromatosis, Aggressive; Humans; Mutation
PubMed: 35952695
DOI: 10.1016/j.suc.2022.05.005 -
Expert Review of Pharmacoeconomics &... 2023Desmoid tumors (DT) are soft-tissue tumors that infiltrate into surrounding structures with ill-defined margins. Although surgery is a potential treatment option,... (Review)
Review
INTRODUCTION
Desmoid tumors (DT) are soft-tissue tumors that infiltrate into surrounding structures with ill-defined margins. Although surgery is a potential treatment option, complete excision with negative margins is not often possible, the postsurgery recurrence rate is high, and surgery can result in disfigurement and/or loss of function.
AREAS COVERED
We conducted a literature review to assess the burden of surgery in patients with DT, focusing on recurrence rates and functional deficits resulting from surgeries. Since economic data related to DT surgery is lacking, reviews of surgery costs in soft-tissue sarcomas and of general costs of amputations were conducted. Risk factors for DT recurrence after surgery are young age (<30 years), tumor location (extremities), tumor size (>5 cm in greatest diameter), positive resection margins, and history of trauma in the area of the primary tumor. Tumors in the extremities have the highest risk of recurrence (30%-90%). Lower rates of recurrences have been reported when radiotherapy was used after surgery (14%-38%).
EXPERT OPINION
Although effective in specific cases, surgery may be associated with poor long-term functional outcomes and higher economic costs. Therefore, it is imperative to find alternative treatments with acceptable efficacy and safety profiles that do not adversely affect functional aspects in patients.
Topics: Humans; Adult; Fibromatosis, Aggressive; Financial Stress; Neoplasm Recurrence, Local; Risk Factors; Retrospective Studies
PubMed: 37099290
DOI: 10.1080/14737167.2023.2203915 -
Annals of Surgical Oncology Jul 2016
Topics: Adenomatous Polyposis Coli; Fibromatosis, Abdominal; Fibromatosis, Aggressive; Humans
PubMed: 26957505
DOI: 10.1245/s10434-016-5160-0 -
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 -
Clinical Cancer Research : An Official... Sep 2022Desmoid tumor research is changing how desmoid tumors are managed with the prospective documentation that growing desmoid tumors spontaneously regress one third of the...
Desmoid tumor research is changing how desmoid tumors are managed with the prospective documentation that growing desmoid tumors spontaneously regress one third of the time. Patient partnership through the Desmoid Research Tumor Foundation and academia is leading to rapid advancement in desmoid tumor biology understanding and treatment. See related articles by Colombo et al., p. 4027, Nathenson et al., p. 4092, and Penel et al., p. 4105.
Topics: Fibromatosis, Aggressive; Humans; Mutation; Prospective Studies; Retrospective Studies; beta Catenin
PubMed: 35819317
DOI: 10.1158/1078-0432.CCR-22-0620 -
Skeletal Radiology Jul 2023Desmoid-type fibromatosis (DF) is a soft tissue tumor characterized by infiltrative growth and a tendency toward local recurrence, while it exhibits self-limiting... (Review)
Review
Desmoid-type fibromatosis (DF) is a soft tissue tumor characterized by infiltrative growth and a tendency toward local recurrence, while it exhibits self-limiting behavior and shows spontaneous regression. With its unpredictable behavior, a change in treatment strategies from initial surgery to nonsurgical management has been proposed, and active surveillance is currently widely chosen as the initial treatment strategy for DF. We reviewed the imaging features of DF regarding its clinical course, focusing on regression cases, postoperative cases, and imaging changes after systemic treatment.
Topics: Humans; Fibromatosis, Aggressive; Diagnostic Imaging; Combined Modality Therapy; Postoperative Period; Soft Tissue Neoplasms
PubMed: 36646850
DOI: 10.1007/s00256-023-04275-x -
Anticancer Research Jul 2017Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence... (Review)
Review
Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation. Among associated lesions in FAP, desmoid tumors represent a common possible life-threatening condition that requires special attention. They are rare tumors occurring with a particularly high incidence in FAP, especially after surgery. In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids. Several lines of evidence show that germline mutations affect the functional domains of the APC gene that are responsible for interactions of the transcript with β-catenin, whereas somatic second mutations involve the downstream region of the gene. Hence, an understanding of the molecular pathways underlying desmoid progression in FAP could be important for research and a valid resource for the early prevention and tailored treatment of this disease. In this review, we provide an updated insight into desmoids in FAP syndrome, from molecular pathogenesis to the main issues in management, with special attention given to genetic and molecular features of these tumors.
Topics: Adenomatous Polyposis Coli; Animals; Fibromatosis, Aggressive; Genes, APC; Germ-Line Mutation; Humans; Incidence; Neoplasms
PubMed: 28668823
DOI: 10.21873/anticanres.11702 -
Cancer Epidemiology Apr 2022The epidemiology, demographic, clinical, treatment, and healthcare resource utilization (HRU) characteristics of desmoid tumor (DT) patients treated at two sarcoma...
INTRODUCTION/AIM
The epidemiology, demographic, clinical, treatment, and healthcare resource utilization (HRU) characteristics of desmoid tumor (DT) patients treated at two sarcoma centers in Denmark is described.
METHODS
Using Danish health registers, we studied DT patients treated at two sarcoma centers between 2009 and 2018. For each patient, ten persons from the general population were randomly matched on birth year, sex, and region of residence.
RESULTS
Of the 179 DT patients identified, 76% were female and the median patient age was 38 years at diagnosis (interquartile range: 31-50). An average annual incidence of DTs over the study period was 3.2 per 1000,000 individuals with the observed annual incidence of DTs ranging from 2.2 (2011) to 4.3 (2017) per 1000,000 individuals. No notable linear time trend in incidence was observed. Anatomical DT sites included extra-abdominal (49%), abdominal wall (40%), and intra-abdominal or retroperitoneal areas (8%). In total, 56% of patients were initially treated surgically. However, while 75% of patients diagnosed with DT between 2009 and 2014 were initially treated surgically, this was true for only 32% of patients diagnosed with DT between 2015 and 2018. A total of 56% of DT patients used chemotherapeutic agents, tyrosine kinase inhibitors, NSAIDs, opioids, antidepressants, or steroids at some point during the three years before their DT diagnoses. In contrast, 70% of surgically treated and 63% of non-surgically treated patients used one of these drugs in the subsequent three years, including NSAIDs (45% surgical vs. 33% non-surgical), opioids (39% surgical vs. 27% non-surgical), and steroids (22% surgical vs. 18% non-surgical). The average number of inpatient and outpatient visits, days of hospitalization, and additional surgical procedures were higher among DT patients than the comparison cohort.
CONCLUSION
DTs are rare but have a large impact on patients' health, HRU, and medication utilization.
Topics: Adult; Analgesics, Opioid; Anti-Inflammatory Agents, Non-Steroidal; Denmark; Female; Fibromatosis, Aggressive; Humans; Male; Sarcoma
PubMed: 35121405
DOI: 10.1016/j.canep.2022.102114 -
Advances in Anatomic Pathology Jul 2015Fibrous and myofibroblastic tumors of soft tissue often present the surgical pathologist with a difficult differential diagnosis because of the number of diagnostic... (Review)
Review
Fibrous and myofibroblastic tumors of soft tissue often present the surgical pathologist with a difficult differential diagnosis because of the number of diagnostic possibilities and morphologic similarities among cytologically bland spindle-cell tumors. Prototypical in this regard is desmoid-type fibromatosis. In a review of 320 surgical specimens diagnosed as desmoid tumor, 94 (29%) were discovered to be misclassified as such. The most common lesions in this series were Gardner fibroma, scar tissue, superficial fibromatosis, nodular fasciitis, myofibroma, and collagenous fibroma. Four sarcomas were also misinterpreted as desmoid-type fibromatosis (3 low-grade fibromyxoid sarcomas and 1 unclassified spindle-cell sarcoma). We take this opportunity to compare and contrast desmoid tumor and several of the soft tissue tumors that should be considered in the differential diagnosis thereof.
Topics: Diagnosis, Differential; Fibroma; Fibromatosis, Aggressive; Fibrosarcoma; Humans; Soft Tissue Neoplasms
PubMed: 26050263
DOI: 10.1097/PAP.0000000000000077