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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 -
Joint Bone Spine Jul 2023
Topics: Humans; Fibroma; Skin Neoplasms; Fingers
PubMed: 36750137
DOI: 10.1016/j.jbspin.2023.105537 -
Archives of Disease in Childhood Aug 2023
Topics: Humans; Fibroma; Fingers
PubMed: 36882304
DOI: 10.1136/archdischild-2023-325339 -
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 -
Oral and Maxillofacial Surgery Clinics... Feb 2024This article provides a comprehensive overview of benign non-odontogenic pathologies. Bone-derived lesions like osteoma, osteoid osteoma, osteoblastoma, and... (Review)
Review
This article provides a comprehensive overview of benign non-odontogenic pathologies. Bone-derived lesions like osteoma, osteoid osteoma, osteoblastoma, and osteochondroma are discussed in detail, emphasizing their radiographic features, locations, and treatment strategies. Cartilage-derived lesions such as chondroma, chondroblastoma, and chondromyxoid fibroma are also examined, noting their typical presentation and management approaches. The article then delves into fibroconnective tissue lesions. Mesenchymal and vascular lesions are detailed regarding their clinical and radiographic characteristics and treatment options. Lastly, nerve-derived lesions like schwannoma and neurofibroma are covered, providing insights into their association with diseases like neurofibromatosis and preferred management strategies.
PubMed: 38402139
DOI: 10.1016/j.coms.2024.01.007 -
Drugs Mar 2024Nirogacestat (OGSIVEO™) is an oral, selective, reversible, small molecule γ-secretase inhibitor developed by SpringWorks Therapeutics, Inc. γ-Secretase is a... (Review)
Review
Nirogacestat (OGSIVEO™) is an oral, selective, reversible, small molecule γ-secretase inhibitor developed by SpringWorks Therapeutics, Inc. γ-Secretase is a multi-subunit protease complex that cleaves multiple transmembrane protein complexes, including Notch and membrane-bound B-cell maturation antigen (BCMA). Inhibition of γ-secretase may result in growth inhibition of tumour cells overexpressing Notch, and preservation of membrane-bound BCMA may increase target density for BCMA-targeted therapy. In November 2023, nirogacestat was approved in the USA for use in adult patients with progressing desmoid tumours who require systemic treatment. This article summarizes the milestones in the development of nirogacestat leading to this first approval for the systemic treatment of desmoid tumours.
Topics: Humans; Amyloid Precursor Protein Secretases; B-Cell Maturation Antigen; Fibromatosis, Aggressive; Tetrahydronaphthalenes; Valine
PubMed: 38409573
DOI: 10.1007/s40265-024-02002-x -
The American Journal of Cardiology Oct 2023Papillary fibroelastomas are benign masses often originating from the endocardium of the aortic and mitral valves. Rarely, these neoplasms are found in areas of the...
Papillary fibroelastomas are benign masses often originating from the endocardium of the aortic and mitral valves. Rarely, these neoplasms are found in areas of the heart embryonically distinct from the aortic and mitral valves. Diagnosis of a papillary fibroelastoma relies on multimodal imaging as well as histologic assessment. A case series of papillary fibroelastomas in unusual locations is presented, highlighting the role of multimodal imaging techniques in identifying these intra-cardiac masses. Differential diagnoses, imaging characteristics, histopathology, and preferred management strategies for cardiac masses are reviewed. The unique imaging qualities of cardiac masses are discussed.
Topics: Humans; Cardiac Papillary Fibroelastoma; Echocardiography, Transesophageal; Fibroma; Heart Neoplasms; Mitral Valve; Male; Female; Middle Aged; Aged; Aged, 80 and over
PubMed: 37544141
DOI: 10.1016/j.amjcard.2023.07.030