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Clinics in Colon and Rectal Surgery Nov 2023Desmoid tumors (DT) represent the second high risk of tumor in familial adenomatous polyposis (FAP) patients. Although FAP-associated DTs (FAP-DT) are caused by germline... (Review)
Review
Desmoid tumors (DT) represent the second high risk of tumor in familial adenomatous polyposis (FAP) patients. Although FAP-associated DTs (FAP-DT) are caused by germline mutations in the adenomatous polyposis coli (APC) gene, extracolonic manifestations, sex, family history, genotype, and the ileal pouch anal anastomosis procedure are all linked to the development of DTs in FAP patients. Multidisciplinary management has replaced aggressive surgery as the preferred treatment of DTs. There is growing evidence to support the use of active surveillance strategy as first-line treatment for FAP-DT patients. Radiotherapy for intra-abdominal desmoids is now rarely used because of severe late toxicity. Pharmacotherapy, however, represents a promising future with the improvement of traditional cytotoxic drugs and the investigation of targeted drugs. Although nonsurgery treatment has been used widely nowadays, surgery remains the mainstay when symptomatic or life-threatening DTs are present. Further research will be needed for more optimal clinical practice.
PubMed: 37795470
DOI: 10.1055/s-0043-1767709 -
Cancers Aug 2023Breast sarcomas (BSs), phyllodes tumors (PTs), and desmoid tumors (DTs) are rare entities that arise from connective tissue. BSs can be classified as either primary or... (Review)
Review
Breast sarcomas (BSs), phyllodes tumors (PTs), and desmoid tumors (DTs) are rare entities that arise from connective tissue. BSs can be classified as either primary or secondary, whether they develop de novo or after radiation exposure or lymphedema. PIK3CA seems to play an important common role in different BS. Malignant PTs show similar behavior to BSs, while DTs are locally aggressive but rarely metastasize. BSs usually present as unilateral, painless, rapidly growing masses with rare nodal involvement. The diagnosis should be based on magnetic resonance imaging and a core needle biopsy. Staging should comprise a chest computed tomography (CT) scan (except for benign PT and DT), while abdominal and pelvic CT scans and bone scans should be added in certain subtypes. The mainstay of treatment for localized BS is surgery, with margin goals that vary according to subtype. Radiotherapy and chemotherapy can be used as neoadjuvant or adjuvant approaches, but their use in these settings is not standard. Advanced BS should be treated with systemic therapy, consistent with recommendations for advanced soft tissue sarcomas of other topographies. Given the rarity and heterogeneity of these entities, multidisciplinary and multi-institutional collaboration and treatment at reference centers are critical.
PubMed: 37568749
DOI: 10.3390/cancers15153933 -
Radiographics : a Review Publication of... Aug 2023Fibroblastic and myofibroblastic tumors are a variable group of neoplasms ranging from benign to malignant. These lesions may affect patients of any age group but are...
Fibroblastic and myofibroblastic tumors are a variable group of neoplasms ranging from benign to malignant. These lesions may affect patients of any age group but are more frequently encountered in the pediatric population. Patient clinical presentation depends on the location, growth pattern, adjacent soft-tissue involvement, and pathologic behavior of these neoplasms. In the 2020 update to the World Health Organization (WHO) classification system, these tumors are classified on the basis of their distinct biologic behavior, histomorphologic characteristics, and molecular profiles into four tumor categories: benign (eg, fibrous hamartoma of infancy, nodular fasciitis, proliferative fasciitis, fibroma of the tendon sheath, calcifying aponeurotic fibroma); intermediate, locally aggressive (eg, desmoid fibromatosis); intermediate, rarely metastasizing (eg, dermatofibrosarcoma protuberans, myxoinflammatory fibroblastic sarcoma, low-grade myofibroblastic sarcoma, infantile fibrosarcoma); and malignant (eg, sclerosing epithelioid fibrosarcomas; low-grade fibromyxoid sarcoma; myxofibrosarcoma; fibrosarcoma, not otherwise specified). Detection of various components of solid tumors at imaging can help in prediction of the presence of corresponding histopathologic variations, thus influencing diagnosis, prognosis, and treatment planning. For example, lesions with a greater myxoid matrix or necrotic components tend to show higher signal intensity on T2-weighted MR images, whereas lesions with hypercellularity and dense internal collagen content display low signal intensity. In addition, understanding the radiologic-pathologic correlation of soft-tissue tumors can help to increase the accuracy of percutaneous biopsy and allow unnecessary interventions to be avoided. RSNA, 2023 Quiz questions for this article are available in the supplemental material.
Topics: Humans; Child; Adult; Neoplasms, Fibrous Tissue; Soft Tissue Neoplasms; Fibroma; Fibrosarcoma; Skin Neoplasms; Diagnosis, Differential; Fasciitis
PubMed: 37440448
DOI: 10.1148/rg.230005 -
Frontiers in Oncology 2023Locally aggressive mesenchymal tumors comprise a heterogeneous group of soft tissue and bone tumors with intermediate histology, incompletely understood biology, and... (Review)
Review
Locally aggressive mesenchymal tumors comprise a heterogeneous group of soft tissue and bone tumors with intermediate histology, incompletely understood biology, and highly variable natural history. Despite having a limited to absent ability to metastasize and excellent survival prognosis, locally aggressive mesenchymal tumors can be symptomatic, require prolonged and repeat treatments including surgery and chemotherapy, and can severely impact patients' quality of life. The management of locally aggressive tumors has evolved over the years with a focus on minimizing morbid treatments. Extensive oncologic surgeries and radiation are pillars of care for high grade sarcomas, however, play a more limited role in management of locally aggressive mesenchymal tumors, due to propensity for local recurrence despite resection, and the risk of transformation to a higher-grade entity following radiation. Patients should ideally be evaluated in specialized sarcoma centers that can coordinate complex multimodal decision-making, taking into consideration the individual patient's clinical presentation and history, as well as any available prognostic factors into customizing therapy. In this review, we aim to discuss the biology, clinical management, and future treatment frontiers for three representative locally aggressive mesenchymal tumors: desmoid-type fibromatosis (DF), tenosynovial giant cell tumor (TSGCT) and giant cell tumor of bone (GCTB). These entities challenge clinicians with their unpredictable behavior and responses to treatment, and still lack a well-defined standard of care despite recent progress with newly approved or promising experimental drugs.
PubMed: 37546427
DOI: 10.3389/fonc.2023.1160239 -
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 -
Cancer Treatment Reviews Feb 2024Desmoid tumors (DT) are rare, slow-growing, locally invasive soft tissue tumors that often pose significant therapeutic challenges. Traditional management strategies... (Review)
Review
Desmoid tumors (DT) are rare, slow-growing, locally invasive soft tissue tumors that often pose significant therapeutic challenges. Traditional management strategies including active surveillance, surgery, radiotherapy, and systemic therapy which are associated with varying recurrence rates and high morbidity. Given the challenging nature of DT and the modest outcomes associated with current treatment strategies, there has been a growing interest in the field of γ-secretase inhibitors as a result of its action on the Wnt/β-catenin signaling pathway. In this review article, we will shed the light on the pathogenesis and molecular biology of DT, discuss its symptoms and diagnosis, and provide a comprehensive review of the traditional therapeutic approaches. We will also delve into the mechanisms of action of γ-secretase inhibitors, its efficacy, and the existing preclinical and clinical data available to date on the use of these agents, as well as the potential challenges and future prospects in the treatment landscape of these tumors.
Topics: Humans; Fibromatosis, Aggressive; Amyloid Precursor Protein Secretases
PubMed: 38159438
DOI: 10.1016/j.ctrv.2023.102675 -
The American Journal of Surgical... Jan 2024Diagnostic classification of soft tissue tumors is based on histology, immunohistochemistry, genetic findings, and radiologic and clinical correlations. Recently, a...
Diagnostic classification of soft tissue tumors is based on histology, immunohistochemistry, genetic findings, and radiologic and clinical correlations. Recently, a sarcoma DNA methylation classifier was developed, covering 62 soft tissue and bone tumor entities. The classifier is based on large-scale analysis of methylation sites across the genome. It includes DNA copy number analysis and determines O 6 methylguanine DNA methyl-transferase methylation status. In this study, we evaluated 619 well-studied soft tissue and bone tumors with the sarcoma classifier. Problem cases and typical examples of different entities were included. The classifier had high sensitivity and specificity for fusion sarcomas: Ewing, synovial, CIC -rearranged, and BCOR -rearranged. It also performed well for leiomyosarcoma, malignant peripheral nerve sheath tumors (MPNST), and malignant vascular tumors. There was low sensitivity for diagnoses of desmoid fibromatosis, neurofibroma, and schwannoma. Low specificity of matches was observed for angiomatoid fibrous histiocytoma, inflammatory myofibroblastic tumor, Langerhans histiocytosis, schwannoma, undifferentiated sarcoma, and well-differentiated/dedifferentiated liposarcoma. Diagnosis of lipomatous tumors was greatly assisted by the detection of MDM2 amplification and RB1 loss in the copy plot. The classifier helped to establish diagnoses for KIT-negative gastrointestinal stromal tumors, MPNSTs with unusual immunophenotypes, and undifferentiated melanomas. O 6 methylguanine DNA methyl-transferase methylation was infrequent and most common in melanomas (35%), MPNSTs (11%), and undifferentiated sarcomas (11%). The Sarcoma Methylation Classifier will likely evolve with the addition of new entities and refinement of the present methylation classes. The classifier may also help to define new entities and give new insight into the interrelationships of sarcomas.
Topics: Humans; DNA Methylation; Melanoma; Pathology, Surgical; Sarcoma; Liposarcoma; Soft Tissue Neoplasms; Neurilemmoma; Neurofibrosarcoma; Transferases; DNA; Biomarkers, Tumor
PubMed: 37921028
DOI: 10.1097/PAS.0000000000002138 -
World Journal of Oncology Jun 2024Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients... (Review)
Review
Desmoid fibromatosis of the breast (also known as desmoid tumor of the breast) is a rare entity infrequently encountered by oncologists and surgeons caring for patients with breast disease. The current body of literature is highly reliant on case series and extrapolations from other sites of desmoid tumor-related disease. Much remains unclear regarding the pathological origins, natural history, and response to treatment of this condition. Traditional treatment strategies have centered on surgical resection, which may result in significantly disfiguring cosmetic and functional outcomes, frequent need for re-operation, and associated morbidity. There are limited data to support the superiority of upfront surgical resection when compared to medical therapy or watchful waiting strategies. Current treatment guidelines for desmoid tumors do not focus on the breast as a site of disease and are purposefully ambiguous due to the paucity of evidence available. We aim to review the literature concerning desmoid fibromatosis of the breast and propose an algorithm for current evidence-based management of this rare disease in the context of our experience with this pathology at a high-volume quaternary referral center.
PubMed: 38751692
DOI: 10.14740/wjon1844 -
International Journal of Cancer Jul 2023The aim of this study is to evaluate the prevalence, determinants and prognostic value of pain at diagnosis in patients with desmoid-type fibromatosis (DF). We selected...
The aim of this study is to evaluate the prevalence, determinants and prognostic value of pain at diagnosis in patients with desmoid-type fibromatosis (DF). We selected patients from the ALTITUDES cohort (NCT02867033), managed by surgery, active surveillance or systemic treatments, with pain assessment at diagnosis. Patients were invited to fill QLQ-C30 questionnaire and Hospital Anxiety Depression Scale. Determinants were identified using logistic models. Prognostic value on event-free survival (EFS) was evaluated using the Cox model. Overall, 382 patients were included in the current study (median age: 40.2 years; 117 men). The prevalence of pain was 36%, without significant difference according to first-line treatment (P = .18). In the multivariate analysis, pain was significantly associated with tumor size >50 mm (P = .013) and tumor site (P < .001); pain was more frequent in the neck and shoulder locations (odds ratio: 3.05 [1.27-7.29]). Pain at baseline was significantly associated with poor quality of life (P < .001), depression (P = .02), lower performance status (P = .03) and functional impairment (P = .001); we also observed a nonsignificant association with anxiety (P = .10). In the univariate analysis, baseline pain was associated with poor EFS; the 3-year EFS was 54% in patients with pain compared to 72% in those without pain. After adjustment for sex, age, size and line of treatment, pain was still associated with poor EFS (hazard ratio: 1.82 [1.23-2.68], P = .003). One third of recently diagnosed patients with DF experienced pain, especially those with larger tumors and neck/shoulder locations. Pain was associated with unfavorable EFS after adjustment for the confounders.
Topics: Adult; Humans; Male; Fibromatosis, Aggressive; Pain; Prevalence; Prognosis; Quality of Life
PubMed: 36883417
DOI: 10.1002/ijc.34493 -
European Journal of Oncology Nursing :... Jun 2024Desmoid tumors are a rare and complex disease characterized by a great diversity in its forms, localizations, and prognosis. Both the disease and the treatment can have...
PURPOSE
Desmoid tumors are a rare and complex disease characterized by a great diversity in its forms, localizations, and prognosis. Both the disease and the treatment can have a significant impact on quality of life in patients. Given the complexity of the disease and its rarity, the literature on patients' experience with the disease scarce. The purpose of this study is to investigate illness representations and subjective experience in participants affected with desmoid tumors.
METHODS
Telephonic semi-directive interviews were used in French patients over 18 years, diagnosed with desmoid tumor. Data were analyzed through a general inductive method to identify emergent general themes in participants' discourse.
RESULTS
Participants (8 women, 7 men) in this study were aged between 27 and 71. The analysis revealed eight major themes relative to representations of illness and treatment, live with the illness, the impact of illness on relationships with others, the illness and medical pathways, and the identity changes caused by the illness. The two most salient themes were illness and treatment representations and life with the illness. Those themes were chosen for this study.
CONCLUSIONS
The results provide new insights on representation of and experience with desmoid tumors in patients. It brings arguments for the necessity of development wider systematic study to explore those variables in a larger sample during all the illness pathway. Indeed, this population meets particular issues appealing for the development of a specific psychosocial support.
PubMed: 38935982
DOI: 10.1016/j.ejon.2024.102644