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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 -
In Vivo (Athens, Greece) 2021Desmoplastic fibroblastoma (also known as collagenous fibroma) is an uncommon benign fibroblastic/myofibroblastic neoplasm that primarily arises in the subcutaneous... (Review)
Review
Desmoplastic fibroblastoma (also known as collagenous fibroma) is an uncommon benign fibroblastic/myofibroblastic neoplasm that primarily arises in the subcutaneous tissue of upper extremity. Magnetic resonance imaging reveals a well-defined mass in intimate association with dense connective tissue and prominent low signal intensity on all pulse sequences. Peripheral and septal enhancement is usually seen after intravenous contrast. Histologically, the lesion is paucicellular and consists of spindle to stellate-shaped cells embedded in a collagenous or myxocollagenous stroma with low vascularity. Diffuse and strong nuclear immunoreactivity for FOS-like antigen 1 seems to be characteristic of desmoplastic fibroblastoma. Cytogenetic studies have demonstrated the presence of 11q12 rearrangements and an identical t(2;11)(q31;q12) translocation. This review provides an updated overview of the clinical, radiological, histological, cytogenetic and molecular genetic features of desmoplastic fibroblastoma and discusses the relationship to fibroma of tendon sheath.
Topics: Fibroma; Fibroma, Desmoplastic; Humans; Magnetic Resonance Imaging; Soft Tissue Neoplasms; Translocation, Genetic
PubMed: 33402451
DOI: 10.21873/invivo.12233 -
Oncology Letters Nov 2013Desmoplastic fibroma is a rare, benign soft-tissue tumor composed of spindled and stellate-shaped cells that are embedded in a dense collagenous stroma. Clinically,...
Desmoplastic fibroma is a rare, benign soft-tissue tumor composed of spindled and stellate-shaped cells that are embedded in a dense collagenous stroma. Clinically, desmoplastic fibroma presents as a firm, mobile, slow-growing mass that is located in the subcutaneous tissue or near the deep aspect of the skeletal muscles. The present study describes the case of a 66-year-old female who presented with an inactive, firm, slightly tender mass in the lower medial segment of the right femur. An open biopsy was performed and the result of the pathological examination indicated a desmoplastic fibroma. The patient underwent a radical resection of the tumor and the accompanying bone, which was then reimplanted using devitalized tumor bone, self-ilium graft and homologous allograft bone transplantation, with an internal fixation by locking the compression plate. This was followed by a reconstruction of the anterior and posterior cruciate ligaments and the lateral and medial collateral ligaments. There was no evidence of local recurrence at five years post-surgery.
PubMed: 24179509
DOI: 10.3892/ol.2013.1535 -
Iranian Journal of Pathology 2020Desmoplastic fibroma (DF) is a benign, locally aggressive neoplasm that rarely occurs in the facial skeleton. It usually presents during the first three decades of life....
Desmoplastic fibroma (DF) is a benign, locally aggressive neoplasm that rarely occurs in the facial skeleton. It usually presents during the first three decades of life. Due to its aggressiveness and high recurrence rate, early diagnosis is imperative, and complete surgical removal of the lesion is the treatment of choice. Herein, we present three cases of DF namely a 2 year-old girl with a mandibular DF, a 9 year-old boy with a maxillary lesion and a 1.5-year old boy with a mandibular DF. Complete clinicopathological information, treatment plan and long-term follow-up of patients are discussed. Histopathologic features of 3 cases revealed non-capsulated spindle cell tumor with fascicular or swirling patterns in incisional biopsy. Immunohistochemical staining was performed to make a definitive diagnosis. Strongly positive nuclear immunoreactivity for β-catenin confirmed the diagnosis of desmoplastic fibroma in 3 cases. Segmental mandibulectomy, partial maxillectomy and hemimandibulectomy were done for the cases. There was no recurrence in our reported cases after 8 and 11 months and 3 years follow up, respectively. It is noteworthy that despite the aggressive nature of DF, young patients often respond well to wide resection treatment.
PubMed: 32215029
DOI: 10.30699/ijp.2020.103833.2049 -
Clinical Gastroenterology and... Nov 2009Pancreatic ductal adenocarcinoma (PDAC) is the most common form of pancreatic cancer and is characterized by remarkable desmoplasia. The desmoplasia is composed of... (Review)
Review
Pancreatic ductal adenocarcinoma (PDAC) is the most common form of pancreatic cancer and is characterized by remarkable desmoplasia. The desmoplasia is composed of extracellular matrix (ECM) proteins, myofibroblastic pancreatic stellate cells, and immune cells associated with a multitude of cytokines, growth factors, and ECM metabolizing enzymes. The mechanisms of participation of this complex matrix process in carcinogenesis are only starting to be appreciated. Recent studies showed key roles for stellate cells in the production of ECM proteins as well as cytokines and growth factors that promote the growth of the cancer cells all present in the desmoplastic parts of PDAC. In addition, interactions of ECM proteins and desmoplastic secreted growth factors with the cancer cells of PDAC activate intracellular signals including reactive oxygen species that act to make the cancer cells resistant to dying. These findings suggest that the desmoplasia of PDAC is a key factor in regulating carcinogenesis of PDAC as well as responses to therapies. A better understanding of the biology of desmoplasia in the mechanism of PDAC will likely provide significant opportunities for better treatments for this devastating cancer.
Topics: Adenocarcinoma; Carcinoma, Pancreatic Ductal; Fibroma, Desmoplastic; Humans; Inflammation Mediators; Models, Biological; Signal Transduction
PubMed: 19896098
DOI: 10.1016/j.cgh.2009.07.039 -
Indian Journal of Orthopaedics Mar 2013Desmoplastic fibroma is a rare, well differentiated, locally aggressive fibrous tumor usually arising from soft tissues, and rarely from bones. Involvement of forearm...
Desmoplastic fibroma is a rare, well differentiated, locally aggressive fibrous tumor usually arising from soft tissues, and rarely from bones. Involvement of forearm bones is extremely unusual. We present a large desmoplastic fibroma of right ulna in a 15-year-old male. The tumor was excised with a wide margin, and the bony defect was reconstructed with nonvascular autologous fibular graft. Reconstruction of the olecranon process was attempted using the fibular head and the remaining olecranon. At 2-years followup, there was no recurrence, flexion extension arc of the elbow joint was 40°-130° and there was no restriction of activities of daily living.
PubMed: 23682186
DOI: 10.4103/0019-5413.108928 -
Biomedicines Feb 2022Giant cell tumor of bone (GCTB) and desmoplastic fibroma (DF) are bone sarcomas with intermediate malignant behavior and unpredictable prognosis. These locally...
A Rationale for the Activity of Bone Target Therapy and Tyrosine Kinase Inhibitor Combination in Giant Cell Tumor of Bone and Desmoplastic Fibroma: Translational Evidences.
Giant cell tumor of bone (GCTB) and desmoplastic fibroma (DF) are bone sarcomas with intermediate malignant behavior and unpredictable prognosis. These locally aggressive neoplasms exhibit a predilection for the long bone or mandible of young adults, causing a severe bone resorption. In particular, the tumor stromal cells of these lesions are responsible for the recruiting of multinucleated giant cells which ultimately lead to bone disruption. In this regard, the underlying pathological mechanism of osteoclastogenesis processes in GCTB and DF is still poorly understood. Although current therapeutic strategy involves surgery, radiotherapy and chemotherapy, the benefit of the latter is still debated. Thus, in order to shed light on these poorly investigated diseases, we focused on the molecular biology of GCTB and DF. The expression of bone-vicious-cycle- and neoangiogenesis-related genes was investigated. Moreover, combining patient-derived primary cultures with 2D and 3D culture platforms, we investigated the role of denosumab and levantinib in these diseases. The results showed the upregulation of , and and the downregulation of and genes, underlining their involvement and promising role in these neoplasms. Furthermore, in vitro analyses provided evidence for suggesting the combination of denosumab and lenvatinib as a promising therapeutic strategy in GCTB and DF compared to monoregimen chemotherapy. Furthermore, in vivo zebrafish analyses corroborated the obtained data. Finally, the clinical observation of retrospectively enrolled patients confirmed the usefulness of the reported results. In conclusion, here we report for the first time a molecular and pharmacological investigation of GCTB and DF combining the use of translational and clinical data. Taken together, these results represent a starting point for further analyses aimed at improving GCTB and DF management.
PubMed: 35203581
DOI: 10.3390/biomedicines10020372 -
Head and Neck Pathology Jun 2015The desmoplastic fibroma (DF) is a rare, fibroblastic lesion of bone that histologically resembles the desmoid tumor of soft tissue. Although classified as benign, it... (Comparative Study)
Comparative Study Review
The desmoplastic fibroma (DF) is a rare, fibroblastic lesion of bone that histologically resembles the desmoid tumor of soft tissue. Although classified as benign, it frequently demonstrates aggressive behavior, often causing tooth mobility, extensive bone destruction, and has a moderate to high recurrence rate. We present three cases of DF in the mandible: the first in a 13 year old female involving the mandibular body in the region of teeth #s 27-#28, the second in a 57 year old female with a lesion apical to tooth #30, and the third in a 20-year-old female involving the left posterior mandible. Clinical, histologic, immunohistochemical (IHC) and radiographic features of this rare neoplasm are discussed. The challenges encountered in establishing an accurate diagnosis due to significant microscopic overlap with other spindle cell lesions are also detailed. Additionally, the findings of IHC stains including vimentin, smooth muscle actin, S-100 protein, β-catenin, HHF-35 and proliferation marker, Ki-67 on 3 cases are reported. The potential for misdiagnosis is high, especially in early lesions, since immunohistochemistry has been reported in literature to be inconsistent when differentiating DFs from other spindle cell lesions. A comparative review of DF and similar entities in the jaws with current considerations in treatment and prognosis is presented.
Topics: Actins; Adolescent; Bone Neoplasms; Female; Fibroma, Desmoplastic; Humans; Mandibular Neoplasms; Middle Aged; S100 Proteins; Vimentin; Young Adult; beta Catenin
PubMed: 25113037
DOI: 10.1007/s12105-014-0561-5 -
Nigerian Medical Journal : Journal of... 2015A fibroma is a benign tumour composed of fibrous connective tissue and they can grow in all organs. They can be classified based on consistency into hard or soft...
A fibroma is a benign tumour composed of fibrous connective tissue and they can grow in all organs. They can be classified based on consistency into hard or soft fibroma, based on histological characteristics into desmoplastic, chondromyxoid, ossifying, non-ossifying fibroma. They can also be classified based on tissue of origin or location in the body, it can also be classified into superficial or deep fibroma. This is a report of a 15-year-old Nigerian boy with a recurrent left ulnar tumour which was rapidly growing and has been excised three times. Preoperative investigations, i.e., plain radiograph, full blood count and fine needle aspiration cytology were done. Patient could not afford CT scan which was requested for. First excision was in 2009. Recurred within 1 year and had a repeat excision in 2011. He had a second recurrence 9 months after and had to have another excision. The last tumour excision left only the part of the left ulna that forms the proximal radioulnar joint and elbow joint. Patient has been followed up after the last excision for 18 months with no recurrence.
PubMed: 25838634
DOI: 10.4103/0300-1652.153408