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Cancer Treatment and Research... 2022Desmoid tumors are rare soft tissue tumors that can have aggressive infiltrative growth and relapse locally. Desmoid tumors can impact functionality and cause... (Review)
Review
Desmoid tumors are rare soft tissue tumors that can have aggressive infiltrative growth and relapse locally. Desmoid tumors can impact functionality and cause treatment-related morbidity and mortality. Here, the authors review current management strategies and avenues for further investigation. As part of the evolution of therapy away from primary surgical approaches to less invasive options, image-guided ablation has been accepted as less morbid and include cryoablation and high-intensity focused ultrasound. Systemic therapy options currently include hormonal agents, nonsteroidal anti-inflammatory drugs, tyrosine kinase inhibitors, and anthracycline-based regimens. Hormonal agents and nonsteroidal anti-inflammatory drugs have benign side effect profiles but generally limited efficacy. Anthracycline-based therapies are limited by the risk of secondary malignancies and cardiomyopathy. Tyrosine kinase inhibitors are well studied, and sorafenib is now one of the most utilized therapies, though limited by its side effect profile. Nirogacestat (PF-0308401) is an investigational small molecule gamma-secretase (GS) inhibitor that has demonstrated efficacy in phase 1 and II trials. A phase III trial investigating patients with desmoid tumors or aggressive fibromatosis is estimated to be completed December 2021 (NCT03785964). In addition to nirogacestat, the gamma-secretase inhibitor AL102 is being investigated for the treatment of patients with progressing desmoid tumors in the phase II/III RINGSIDE trial. Finally, the beta-catenin inhibitor Tegavivint (BC2059) is being investigated in a phase 1 open-label trial in patients with a proven primary or recurrent desmoid tumor that is unresectable and symptomatic or progressive.
Topics: Amyloid Precursor Protein Secretases; Anthracyclines; Anti-Inflammatory Agents; Fibromatosis, Aggressive; Humans; Neoplasm Recurrence, Local; Protein Kinase Inhibitors
PubMed: 35460976
DOI: 10.1016/j.ctarc.2022.100562 -
Communications Biology Nov 2023Dupuytren's contracture, a superficial dermal fibrosis, causes flexion contracture of the affected finger, impairing hand function. Specific single-nucleotide...
Dupuytren's contracture, a superficial dermal fibrosis, causes flexion contracture of the affected finger, impairing hand function. Specific single-nucleotide polymorphisms within genes in the Wnt signalling pathway are associated with the disease. However, the precise role of Wnt signalling dysregulation in the onset and progression of Dupuytren's contracture remains unclear. Here, using a fibrosis mouse model and clinical samples of human Dupuytren's contractures, we demonstrate that the activation of Wnt/β-catenin signalling in Tppp3-positive cells in the dermis of the paw is associated with the development of fibrosis. Fibrosis development and progression via Wnt/β-catenin signalling are closely related to stromal cell-macrophage interactions, and Wnt/β-catenin signalling activation in Tppp3-positive stromal cells causes M2 macrophage infiltration via chemokine Cxcl14, resulting in the formation of a TGF-β-expressing fibrotic niche. Inhibition of Cxcl14 mitigates fibrosis by decreasing macrophage infiltration. These findings suggest that Cxcl14-mediated stromal cell-macrophage interaction is a promising therapeutic target for Wnt/β-catenin-induced fibrosis.
Topics: Animals; Mice; Humans; Dupuytren Contracture; beta Catenin; Ligands; Wnt Signaling Pathway; Fibrosis
PubMed: 37980373
DOI: 10.1038/s42003-023-05558-8 -
Polski Przeglad Chirurgiczny Oct 2022Dupuytrens disease is a common fibrotic disorder of the palmar aponeurosis characterized by the formation of nodules and cords, as well as development of progressive... (Review)
Review
Dupuytrens disease is a common fibrotic disorder of the palmar aponeurosis characterized by the formation of nodules and cords, as well as development of progressive flexion deformities in the digits, leading to functional impairment. Surgical excision of the affected aponeurosis remains the most common treatment. Quite a few new information appeared about epidemiology, pathogenesis and particularly treatment of the disorder. The objective of this study is an updated review of scientific data in this topic. Results of epidemiologic studies showed that Dupuytrens disease is not so uncommon in Asian and African population as it was earlier believed. An important role of genetic factors on development of the disease in a proportion of patients was demonstrated, however, it did not translate neither to the treatment nor to the prognosis. The most changes concerned the management of Dupuytrens disease. A positive effect of steroids injections into the nodules and cords for inhibition of the disease in early stages was shown. In the advanced stages, a standard technique of partial fasciectomy was partly replaced by mini-invasive methods such as needle fasciotomy and collagenase Clostirdium hystolyticum injections. Unexpected withdrawal of collagenase from the market in 2020 resulted in considerable limitation of the availability of this treatment. It seems that updated knowledge on Dupuytrens disease may be interested and useful for surgeons involved in management of the disorder.
Topics: Humans; Dupuytren Contracture; Collagenases; Fasciotomy
PubMed: 36808068
DOI: 10.5604/01.3001.0016.0058 -
Korean Journal of Radiology Jun 2021To demonstrate the feasibility of percutaneous microwave ablation in desmoid fibromatosis with respect to tumor volume control and improvement in the quality of life.
OBJECTIVE
To demonstrate the feasibility of percutaneous microwave ablation in desmoid fibromatosis with respect to tumor volume control and improvement in the quality of life.
MATERIALS AND METHODS
Twelve microwave ablations were performed in 9 patients with a histological diagnosis of desmoid fibromatosis between January 2010 and January 2019. The study population included 6 female and 3 male, with an age range of 21-76 years (mean = 46.6 years; standard deviation [SD] = 19.3 years). The mean major axis of the tumors was 10.9 cm (SD = 5.2 cm) and mean lesion volume was 212.7 cm³ (SD = 213 cm³). Their anatomical distribution was as follows: 3 lesions in the thigh, 2 in the gluteus, 2 in the leg and 2 in the periscapular region. We evaluated the reduction in tumor volume and improvement in the quality of life based on the Eastern Cooperative Oncology Group (ECOG) scale.
RESULTS
An average tumor volume reduction of 70.4% (SD = 24.9) was achieved, while the quality of life (ECOG scale) improved in 88.9% of patients.
CONCLUSION
Percutaneous microwave ablation may potentially be a safe, effective, and promising technique for controlling tumor volume and improving the quality of life in patients with desmoid fibromatosis.
Topics: Adult; Aged; Female; Fibromatosis, Aggressive; Humans; Male; Microwaves; Middle Aged; Quality of Life; Radiofrequency Ablation; Tumor Burden; Young Adult
PubMed: 33938645
DOI: 10.3348/kjr.2020.0768 -
The British Journal of Radiology Aug 2022The aim of this study was to investigate the CT imaging characteristics of ovarian fibrothecoma which may aid in the differentiation from early stage epithelial tumours.
OBJECTIVE
The aim of this study was to investigate the CT imaging characteristics of ovarian fibrothecoma which may aid in the differentiation from early stage epithelial tumours.
METHODS
Comparison of 36 patients (41 lesions) with pathologically proven ovarian fibrothecoma tumours and 36 (52 lesions) serous papillary carcinomas (SPCs) lesions. We noted their laterality, size, density, calcifications, Hounsfield units (HUs) and introduced a novel HU comparison technique with the psoas muscle or the uterus. Patients' clinical findings such as ascites, pleural effusion, carbohydrate antigen-125 levels, and lymphadenopathy findings were also included.
RESULTS
Average age was 67.8 and 66 across the fibrothecoma and SPC cohort respectively. Fibrothecoma tumours had diameters ranging from 24 to 207 mm (Median: 94 mm). 80.6% of the fibrothecoma cohort had ascites which was comparable to the 72.2% in the SPC cohort. 70.7% of fibrothecoma tumour favour a purely to predominantly solid structural configuration ( < 0.001). The average HU value for the fibrothecoma solid component was 44 ± 11.7 contrasting the SPC HU value of 66.8 ± 15. The psoas:tumour mass ratio demonstrated a median of 0.7, whereas SPCs shows a median of 1.1 ( < 0.001).
CONCLUSION
Suspicion of ovarian fibrothecoma should be considered through interrogation of their structural density configuration, low psoas to mass HU ratio and a presence of ascites.
ADVANCES IN KNOWLEDGE
CT imaging can be a useful tool in diagnosing fibrothecoma tumours and subsequently reducing oncogynaecological tertiary centre referrals, financial burden and patient operative morbidity and mortality.
Topics: Ascites; CA-125 Antigen; Female; Fibroma; Granulosa Cell Tumor; Humans; Neoplasms, Glandular and Epithelial; Ovarian Neoplasms; Retrospective Studies; Thecoma; Tomography, X-Ray Computed
PubMed: 35451310
DOI: 10.1259/bjr.20210790 -
The Journal of Pathology Feb 2023The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic...
The FOS gene family has been implicated in tumourigenesis across several tumour types, particularly mesenchymal tumours. The rare fibrous tumour desmoplastic fibroblastoma is characterised by overexpression of FOSL1. However, previous studies using cytogenetic and molecular techniques did not identify an underlying somatic change involving the FOSL1 gene to explain this finding. Prompted by an unusual index case, we report the discovery of a novel FOSL1 rearrangement in desmoplastic fibroblastoma using whole-genome and targeted RNA sequencing. We investigated 15 desmoplastic fibroblastomas and 15 fibromas of tendon sheath using immunohistochemistry, in situ hybridisation and targeted RNA sequencing. Rearrangements in FOSL1 and FOS were identified in 10/15 and 2/15 desmoplastic fibroblastomas respectively, which mirrors the pattern of FOS rearrangements observed in benign bone and vascular tumours. Fibroma of tendon sheath, which shares histological features with desmoplastic fibroblastoma, harboured USP6 rearrangements in 9/15 cases and did not demonstrate rearrangements in any of the four FOS genes. The overall concordance between FOSL1 immunohistochemistry and RNA sequencing results was 90%. These findings illustrate that FOSL1 and FOS rearrangements are a recurrent event in desmoplastic fibroblastoma, establishing this finding as a useful diagnostic adjunct and expanding the spectrum of tumours driven by FOS gene family alterations. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
Topics: Humans; Fibroma, Desmoplastic; Fibroma; Gene Rearrangement; In Situ Hybridization; Soft Tissue Neoplasms; Ubiquitin Thiolesterase
PubMed: 36426824
DOI: 10.1002/path.6038 -
Polski Przeglad Chirurgiczny Oct 2022<b><br>Introduction:</b> Dupuytren's disease is a common fibrotic disorder of the palmar aponeurosis characterized by the formation of nodules and... (Review)
Review
<b><br>Introduction:</b> Dupuytren's disease is a common fibrotic disorder of the palmar aponeurosis characterized by the formation of nodules and cords, as well as development of progressive flexion deformities in the digits, leading to functional impairment. Surgical excision of the affected aponeurosis remains the most common treatment. Quite a few new information appeared about epidemiology, pathogenesis and particularly treatment of the disorder.</br> <b><br>Aim:</b> The aim of this study is an updated review of scientific data in this topic.</br> <b><br>Results:</b> Results of epidemiologic studies showed that Dupuytren's disease is not so uncommon in Asian and African population as it was earlier believed. An important role of genetic factors on development of the disease in a proportion of patients was demonstrated, however, it did not translate neither to the treatment nor to the prognosis. The most changes concerned the management of Dupuytren's disease. A positive effect of steroids injections into the nodules and cords for inhibition of the disease in early stages was shown. In the advanced stages, a standard technique of partial fasciectomy was partly replaced by mini-invasive methods such as needle fasciotomy and collagenase Clostirdium hystolyticum injections. Unexpected withdrawal of collagenase from the market in 2020 resulted in considerable limitation of the availability of this treatment.</br> <b><br>Conclusion:</b> It seems that updated knowledge on Dupuytren's disease may be interested and useful for surgeons involved in management of the disorder.</br>.
Topics: Humans; Dupuytren Contracture; Collagenases; Fasciotomy
PubMed: 38058165
DOI: 10.5604/01.3001.0016.0058 -
Foot (Edinburgh, Scotland) Dec 2021Plantar fibromas are a common diagnosis in orthopaedic foot clinic consultation, diagnosis of plantar fibroma is usually from history and examination, and radiological... (Review)
Review
Plantar fibromas are a common diagnosis in orthopaedic foot clinic consultation, diagnosis of plantar fibroma is usually from history and examination, and radiological investigation may be needed to confirm diagnosis. Misdiagnosis, however, of plantar fibroma have been known to happen. The management of five cases of plantar soft tissue swellings were reviewed; the clinical presentation and radiological investigation findings of these cases are discussed with the aim of improving knowledge and awareness.
Topics: Fibroma; Foot Diseases; Humans; Sarcoma; Soft Tissue Neoplasms
PubMed: 33268229
DOI: 10.1016/j.foot.2020.101736 -
Polish Journal of Pathology : Official... 2021Juvenile psammomatoid ossifying fibroma (JPOF) is an uncommon benign and locally aggressive tumor. We report an unusual head tumour with extremely rare extensiveness and...
Juvenile psammomatoid ossifying fibroma (JPOF) is an uncommon benign and locally aggressive tumor. We report an unusual head tumour with extremely rare extensiveness and aggressivness. The patient was 18-year-old female with three-day-lasting headache and repetitive oral bleeding. Computed tomography revealed a large, well-circumscribed, expansile mass occupying ethmoid cells, nasal cavities and ventral part of the sphenoid sinus, with extention into the anterior cranial fossa. Pterional craniotomy was carried out. On one-year follow-up recurrence of the lesion was identified and the second surgery was performed. The lesion is under supervision now, due to incomplete removal.
Topics: Adolescent; Bone Neoplasms; Female; Fibroma, Ossifying; Humans; Tomography, X-Ray Computed
PubMed: 35048642
DOI: 10.5114/pjp.2021.111779 -
Asian Journal of Surgery Dec 2022
Topics: Humans; Fibromatosis, Aggressive; Diaphragm
PubMed: 35835675
DOI: 10.1016/j.asjsur.2022.06.104