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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 -
Thoracic Cancer Nov 2021Desmoplastic fibroblastoma is an extremely rare benign soft tissue tumor and desmoplastic fibroblastoma originating from the diaphragm has not been documented...
Desmoplastic fibroblastoma is an extremely rare benign soft tissue tumor and desmoplastic fibroblastoma originating from the diaphragm has not been documented previously. In our case, we report the first primary diaphragm desmoplastic fibroblastoma.
Topics: Diagnosis, Differential; Diaphragm; Female; Fibroma, Desmoplastic; Humans; Middle Aged; Soft Tissue Neoplasms; Tomography, X-Ray Computed
PubMed: 34581000
DOI: 10.1111/1759-7714.14168 -
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 -
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 -
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 -
Indian Journal of Otolaryngology and... Dec 2022Desmoplastic fibroma is a benign, rare, but locally aggressive lesion. The intraosseous type rarely presents in the jaws. Desmoplastic fibroma represents the...
Desmoplastic fibroma is a benign, rare, but locally aggressive lesion. The intraosseous type rarely presents in the jaws. Desmoplastic fibroma represents the intraosseous counterpart of the soft tissue fibromatoses or desmoid tumor, affects predominantly young people with an affinity for the mandible. The aim of this article is to describe a rare case of spontaneous bone regeneration after resection of intraosseous type of Desmoplastic fibroma. We report a case of intraosseous Desmoplastic fibroma involving right body and ramus of the mandible of a 17 years old, male patient, that underwent surgical procedure by Risdon access to remove all lesion with 1 cm free margins and reconstructed with 2.4 mm plate. After 3 years follow up, spontaneous bone regeneration was found with no signs of recurrence of the lesion. In conclusion, cases of spontaneous bone regeneration after mandibular resection is rare and there are few studies and case report in the literature.
PubMed: 36742857
DOI: 10.1007/s12070-021-02608-7 -
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 -
Case Reports in Oncology 2023Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft...
Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft tissue fibromatosis. It rarely involves the small bones of the hand. We describe an extremely rare case of desmoplastic fibroma of the proximal phalanx of the hand in a patient who presented with an aggressively enlarging but painless mass on the left ring finger. Radiological features suggested malignancy; however, an initial biopsy revealed fibrotic tissue. Trans-metacarpal amputation of the ring and little fingers and soft tissue reconstruction were performed using a local ulnar-based flap of the little finger. The final histopathological evaluation revealed desmoplastic fibroma. Aggressively growing masses in the hand should be treated according to a sarcoma management protocol, and desmoplastic fibroma should be included in the differential diagnosis.
PubMed: 37485013
DOI: 10.1159/000529895