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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 -
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 -
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 -
Chinese Medical Journal Jan 2018Desmoplastic fibroblastoma (collagenous fibroma) is an uncommon benign soft-tissue tumor, rarely involving bone. It shares some overlapping features with other...
BACKGROUND
Desmoplastic fibroblastoma (collagenous fibroma) is an uncommon benign soft-tissue tumor, rarely involving bone. It shares some overlapping features with other infiltrate tumors, such as desmoid-type fibromatosis, neurofibroma, and low-grade fibromyxoid sarcoma. The misdiagnosis may cause unnecessary surgical overtreatment, especially for those involving bone. In order to deepen the understanding of the diagnosis and differential diagnosis of desmoplastic fibroblastoma, we planned to analyze the clinical, radiological, and histopathological features and the outcome of desmoplastic fibroblastoma on the basis of case analysis and literature review.
METHODS
Sixteen cases were retrieved from the surgical pathology records from May 2011 to April 2016 in the Department of Pathology in Beijing Jishuitan Hospital. Formalin-fixed, paraffin-embedded specimens of 16 cases of desmoplastic fibroblastoma were collected. Hematoxylin and eosin stain and immunohistochemistry were used to observe the histological features of desmoplastic fibroblastoma of soft tissue and bone. The images for diagnosis obtained from the ultrasonic examination, X-ray, magnetic resonance imaging, and computed tomography were used to observe the radiological features. Related literatures were retrieved from the PubMed and CNKI databases.
RESULTS
Sixteen cases of desmoplastic fibroblastoma of soft tissue were located in the hand (n = 7), foot (n = 4), upper arm (n = 1), shoulder (n = 1), forearm (n = 2), and one case occurred in the proximal femur. Age ranged from 32 to 82 years (median age: 58 years). There were six females and ten males. Histologically, the lesions of soft tissue appeared as well-circumscribed masses with abundant collagenous matrix and low vascularity. Tumor cells were stellate- or spindle-shaped and uniformly distributed within the extracellular matrix. In five cases, the desmoplastic fibroblastoma were found to have infiltrated into the skeletal muscle tissue. In one case of desmoplastic fibroblastoma of bone, radiographs revealed osteolytically well-defined lesion. Immunohistochemistry stain showed that vimentin and smooth muscle actin were positive in all cases of desmoplastic fibroblastoma.
CONCLUSIONS
Desmoplastic fibroblastoma (collagenous fibroma) has prominent clinical, histopathological, and radiological features. Before the differential diagnosis from other tumors is obtained by thorough analysis and comparison of the similar and different characteristics, the appropriate surgical management and accurate prognosis evaluation could not be delivered to the patient.
Topics: Adult; Aged; Aged, 80 and over; Bone Neoplasms; Bone and Bones; Diagnosis, Differential; Female; Fibroma, Desmoplastic; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Middle Aged; Tomography, X-Ray Computed; Ultrasonography
PubMed: 29271377
DOI: 10.4103/0366-6999.221274 -
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 -
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 -
Neurological Sciences and Neurosurgery 2020Desmoplastic fibromas are rare benign bone tumors occurring primarily in long bones and mandible. In this case report, we present a desmoplastic fibroma originating from...
Desmoplastic fibromas are rare benign bone tumors occurring primarily in long bones and mandible. In this case report, we present a desmoplastic fibroma originating from the left frontal bone. This is an exceptionally rare presentation of this pathology and the associated imaging and pathologic slides are highly educational. We discuss the relevance to the literature and how to manage these patients clinically.
PubMed: 33103158
DOI: 10.47275/2692-093x-108 -
Journal of Bone Oncology Feb 2021Desmoplastic fibroma (DF) is an intraosseous counterpart of desmoid-type soft tissue fibromatosis. It is most frequently seen in the jawbones. The clinical and...
Desmoplastic fibroma (DF) is an intraosseous counterpart of desmoid-type soft tissue fibromatosis. It is most frequently seen in the jawbones. The clinical and radiological features of the present cases were nonspecific. The accumulation of beta-catenin in the nuclei of neoplastic cells which is a diagnostic feature of desmoid-type soft tissue fibromatosis could not be detectED in the present DF series. The aim of this study is to report a series of 22 cases of DF involving either mandible or maxilla. A retrospective evaluation of desmoplastic fibroma and beta-catenin, smooth muscle actin, nestin, cyclin D1 immunostaining's patterns. Most of the DF cases expressed only cytoplasmic beta-catenin immunostainings. We suggest that nuclear beta-catenin staining may not be used as a corroborating the diagnosis of DF. Immunohistochemical staining difference of jaw bone desmoplastic fibromas from other soft tissue and bone lesions may be related to the origination of jaw bone from The neural crest. Strong nestin and cyclin D1 positivity in our series supported this. A combined clinical, radiological, and histopathological analysis of the DF cases is essential in the diagnosis and management.
PubMed: 33204607
DOI: 10.1016/j.jbo.2020.100333