-
European Journal of Cancer (Oxford,... Mar 2020Desmoid tumor (DT; other synonymously used terms: Desmoid-type fibromatosis, aggressive fibromatosis) is a rare and locally aggressive monoclonal, fibroblastic... (Review)
Review
Desmoid tumor (DT; other synonymously used terms: Desmoid-type fibromatosis, aggressive fibromatosis) is a rare and locally aggressive monoclonal, fibroblastic proliferation characterised by a variable and often unpredictable clinical course. Previously surgery was the standard primary treatment modality; however, in recent years a paradigm shift towards a more conservative management has been introduced and an effort to harmonise the strategy amongst clinicians has been made. We present herein an evidence-based, joint global consensus guideline approach to the management of this disease focussing on: molecular genetics, indications for an active treatment, and available systemic therapeutic options. This paper follows a one-day consensus meeting held in Milan, Italy, in June 2018 under the auspices of the European Reference Network for rare solid adult cancers, EURACAN, the European Organisation for Research and Treatment of Cancer (EORTC) Soft Tissue and Bone Sarcoma Group (STBSG) as well as Sarcoma Patients EuroNet (SPAEN) and The Desmoid tumour Research Foundation (DTRF). The meeting brought together over 50 adult and pediatric sarcoma experts from different disciplines, patients and patient advocates from Europe, North America and Japan.
Topics: Adult; Child; Combined Modality Therapy; Consensus; Disease Management; Fibromatosis, Aggressive; Humans; Practice Guidelines as Topic
PubMed: 32004793
DOI: 10.1016/j.ejca.2019.11.013 -
Deutsches Arzteblatt International Nov 2021The worldwide prevalence of Dupuytren's disease (DD) is 8%. DD is a chronic disease for which there is no cure. Various treatments are available. (Review)
Review
BACKGROUND
The worldwide prevalence of Dupuytren's disease (DD) is 8%. DD is a chronic disease for which there is no cure. Various treatments are available.
METHODS
This review is based on pertinent publications retrieved by a selective search in PubMed and Embase.
RESULTS
Genetic factors account for 80% of the factors involved in causing this disease. Diabetes mellitus, hepatic diseases, epilepsy, and chronic occupational use of vibrating tools are also associated with it. Limited fasciectomy is the most common treatment and is considered the reference standard. Possible complications include persistent numbness in areas where the skin has been elevated, cold sensitivity, and stiffness, with a cumulative risk of 3.6 -39.1% for all complications taken together. The recurrence rate at 5 years is 12-73%. Percutaneous needle fasciotomy is the least invasive method, with more rapid recovery and a lower complication rate than with limited fasciectomy. 85% of patients have a recurrence after an average of 2.3 years. Radiotherapy can be given before contractures arise in patients with high familial risk, or postoperatively in selected patients with a very high individual risk of recurrence.
CONCLUSION
Although DD is not curable, good treatments are available. Recurrences reflect the pathophysiology of the disease and should not be considered complications of treatment. When counseling patients about the available treatment options, particularly the modalities and timing of surgery, the physician must take the patient's degree of suffering into account. Nowadays, fast recovery from surgery and less postoperative pain are a priority for many patients. Different surgical methods can be used in combination. It remains difficult to predict the natural course and the time to postoperative recurrence in individual patients; these matters should be addressed in future studies.
Topics: Dupuytren Contracture; Fasciotomy; Humans; Needles; Orthopedic Procedures; Research Design
PubMed: 34702442
DOI: 10.3238/arztebl.m2021.0325 -
Radiologia 2020Breast implants are associated with well-known common complications that have been widely studied, such as rupture and capsular contraction. However, the increasingly... (Review)
Review
Breast implants are associated with well-known common complications that have been widely studied, such as rupture and capsular contraction. However, the increasingly growing number of patients with breast implants has led to the increased likelihood of coming across less common complications; these include seromas or late infection; adenopathies in the internal mammary chain; granulomas in the capsule of the implant, which in some cases can extend beyond the fibrous capsule; desmoid tumors associated with the implants; and breast implant-associated large cell anaplastic lymphoma. This article aims to review the main uncommon complications associated with breast implants and to describe and illustrate their findings in different imaging techniques. Proper management of these complications is important; this is especially true of late seroma and the diagnosis of breast implant-associated large cell anaplastic lymphoma for their repercussions.
Topics: Breast Implants; Breast Neoplasms; Female; Fibroma; Granuloma, Foreign-Body; Humans; Lymphoma, Large-Cell, Anaplastic; Postoperative Complications; Silicone Gels
PubMed: 32273126
DOI: 10.1016/j.rx.2020.01.008 -
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 -
Cancer Aug 2022Desmoid tumors (DTs) are rare soft tissue mesenchymal neoplasms that may be associated with impairments, disfigurement, morbidity, and (rarely) mortality. DT disease... (Review)
Review
Desmoid tumors (DTs) are rare soft tissue mesenchymal neoplasms that may be associated with impairments, disfigurement, morbidity, and (rarely) mortality. DT disease course can be unpredictable. Most DTs are sporadic, harboring somatic mutations in the gene that encodes for β-catenin, whereas DTs occurring in patients with familial adenomatous polyposis have germline mutations in the APC gene, which encodes for a protein regulator of β-catenin. Pathology review by an expert soft tissue pathologist is critical in making a diagnosis. Magnetic resonance imaging is preferred for most anatomic locations. Surgery, once the standard of care for initial treatment of DT, is associated with a significant risk of recurrence as well as avoidable morbidity because spontaneous regressions are known to occur without treatment. Consequently, active surveillance in conjunction with pain management is now recommended for most patients. Systemic medical treatment of DT has evolved beyond the use of hormone therapy, which is no longer routinely recommended. Current options for medical management include tyrosine kinase inhibitors as well as more conventional cytotoxic chemotherapy (e.g., anthracycline-based or methotrexate-based regimens). A newer class of agents, γ-secretase inhibitors, appears promising, including in patients who fail other therapies, but confirmation in Phase 3 trials is needed. In summary, DTs present challenges to physicians in diagnosis and prognosis, as well as in determining treatment initiation, type, duration, and sequence. Accordingly, evaluation by a multidisciplinary team with expertise in DT and patient-tailored management are essential. As management strategies continue to evolve, further studies will help clarify these issues and optimize outcomes for patients.
Topics: Adenomatous Polyposis Coli; Fibromatosis, Aggressive; Humans; Prognosis; Soft Tissue Neoplasms; beta Catenin
PubMed: 35670122
DOI: 10.1002/cncr.34332 -
JPMA. the Journal of the Pakistan... Jan 2023Congenital muscular torticollis is a problem that arises at birth or immediately after birth in which the sternocleidomastoid muscle is shortened on the afflicted side,... (Review)
Review
Congenital muscular torticollis is a problem that arises at birth or immediately after birth in which the sternocleidomastoid muscle is shortened on the afflicted side, leading to an ipsilateral rotated of the head and a contralateral rotation of the face and jaw. To determine the effectiveness of physical therapy treatment in infants treated for congenital muscular torticollis, relevant articles published between 2011 and 2020 were located using electronic databases. A total of 9 studies out of 24 potentially relevant articles were reviewed. All studies were randomised controlled trials with 6-8 score on the Physiotherapy Evidence Database scale (Pedro scale) which showed high quality of methodology. The studies typically found significant statistical effects in the management of congenital muscular torticollis. Additionally, most of the studies reported increased adherence to exercise as another essential advantage. Conservative physical therapy management showed positive outcomes, and early physiotherapy referral showed significant reduction in treatment duration.
Topics: Infant, Newborn; Infant; Humans; Torticollis; Muscular Diseases; Neck Muscles; Physical Therapy Modalities; Fibroma
PubMed: 36842018
DOI: 10.47391/JPMA.3852 -
The British Journal of Radiology Feb 2022Brenner tumors are rare ovarian neoplasms composed of ovarian transition cells surrounded by dense fibrous tissue. Most of them are small tumors (<2 cm), detected...
Brenner tumors are rare ovarian neoplasms composed of ovarian transition cells surrounded by dense fibrous tissue. Most of them are small tumors (<2 cm), detected incidentally in asymptomatic women. Its predominantly fibrous content results in relatively low signal on weighted images, establishing differential diagnosis with ovarian fibroma and thecoma. Their imaging features are very similar, the differentiation is based on secondary characteristics, such as signs or symptoms of estrogen excess and the presence of a second ovarian neoplasm, which has been reported in up to 30% of patients with Brenner tumor. Although originally thought to be universally benign, there have been scattered reports in the past decades of borderline and malignant forms of Brenner tumors.
Topics: Brenner Tumor; Cystadenofibroma; Diagnosis, Differential; Female; Fibroma; Humans; Leiomyoma; Magnetic Resonance Imaging; Ovarian Neoplasms; Rare Diseases; Thecoma; Tomography, X-Ray Computed; Ultrasonography
PubMed: 34928171
DOI: 10.1259/bjr.20210687 -
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 -
International Journal of Molecular... Oct 2021Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases),... (Review)
Review
Parathyroid tumors are rare endocrine neoplasms affecting 0.1-0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2-1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms.
Topics: Adenoma; Cyclin-Dependent Kinase Inhibitor p27; Epigenesis, Genetic; Fibroma; Humans; Hyperparathyroidism; Hyperparathyroidism, Primary; Jaw Neoplasms; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2a; Mutation; Parathyroid Neoplasms; Proto-Oncogene Proteins; Tumor Suppressor Proteins
PubMed: 34681865
DOI: 10.3390/ijms222011206 -
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