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BMC Musculoskeletal Disorders Apr 2024Desmoplastic fibroma is an extremely rare primary bone tumor. Its characteristic features include bone destruction accompanied by the formation of soft tissue masses....
BACKGROUND
Desmoplastic fibroma is an extremely rare primary bone tumor. Its characteristic features include bone destruction accompanied by the formation of soft tissue masses. This condition predominantly affects individuals under the age of 30. Since its histology is similar to desmoid-type fibromatosis, an accurate diagnosis before operation is difficult. Desmoplastic fibroma is resistant to chemotherapy, and the efficacy of radiotherapy is uncertain. Surgical excision is preferred for treatment, but it entails high recurrence. Further, skeletal reconstruction post-surgery is challenging, especially in pediatric cases.
CASE PRESENTATION
Nine years ago, a 14-year-old male patient presented with a 4-year history of progressive pain in his left wrist. Initially diagnosed as fibrous dysplasia by needle biopsy, the patient underwent tumor resection followed by free vascularized fibular proximal epiphyseal transfer for wrist reconstruction. However, a histological examination confirmed a diagnosis of desmoplastic fibroma. The patient achieved bone union and experienced a recurrence in the ipsilateral ulna 5 years later, accompanied by a wrist deformity. He underwent a second tumor resection and wrist arthrodesis in a single stage. The most recent annual follow-up was in September 2023; the patient had no recurrence and was satisfied with the surgery.
CONCLUSIONS
Desmoplastic fibroma is difficult to diagnose and treat, and reconstruction surgery after tumor resection is challenging. Close follow-up by experienced surgeons may be beneficial for prognosis.
Topics: Adolescent; Humans; Male; Bone Neoplasms; Fibroma; Fibroma, Desmoplastic; Fibula; Follow-Up Studies; Tomography, X-Ray Computed
PubMed: 38643068
DOI: 10.1186/s12891-024-07454-6 -
Oncology Letters Oct 2015Desmoplastic fibroma of the bone is an extremely rare primary benign tumor. The present study reports a case of desmoplastic fibroma of the bone with the longest...
Desmoplastic fibroma of the bone is an extremely rare primary benign tumor. The present study reports a case of desmoplastic fibroma of the bone with the longest published follow-up. A 21-year-old female presented to The First Hospital of Jilin University (Changchun, Jilin, China) with thigh pain. Radiography demonstrated a lytic expansile lesion in the proximal femur. Curettage was performed, followed by use of an allogeneic graft. One month later, the patient suffered a pathological fracture and was treated with an open reduction and internal fixation. There was no recurrence of the tumor over a 28-year follow-up period. In conclusion, desmoplastic fibroma in the proximal femur is rare and an intralesional resection is strongly recommended to prevent recurrence. The disease may be misdiagnosed as a bone cyst, so the diagnosis should be confirmed with a histological examination.
PubMed: 26622872
DOI: 10.3892/ol.2015.3603 -
Pakistan Journal of Medical Sciences 2019To study the clinocopathological factors and presence of Human Pappiloma Virus in ameloblastoma by immnohistochemistry.
OBJECTIVE
To study the clinocopathological factors and presence of Human Pappiloma Virus in ameloblastoma by immnohistochemistry.
METHODS
It was a cross sectional study on 50 surgical specimens of ameloblastoma, completed in six months. These were selected and processed for initial screening by H&E and then by immunohistochemistry (IHC) for detection of Human Papilloma Virus (HPV). The questionnaire was designed to study the clinicopathological factors associated in these patients. Sections of 4µm were cut, placed on special positive charged glass slides in the Department of Pathology, King Edward Medical University. It was then examined by the histopathologists for grading and scoring of these lesions. Chi Square test was used to assess the differences found in types of ameloblastomas. The p-value was smaller than 0.05 (p < 0.05).
RESULTS
The mean age of the patients (12-80 years old) was 38.6±15.1 years, with male-female ratio 2.84: 1. HPV was positive in 9 (18%), whereas negative in of 41 (82%) patients. Among the positive, reactive HPV with score-1 was 8 and score-2 was 1. According to histological variant, follicular was present in 78%, Plexiform pattern in 8%, Conventional and Desmoplastic variants in one patient each; and Cystic and Acanthomatous were seen in two and three patients respectively. The mandible was involved in 39 patients, maxilla and right maxilla involved in 4 patients each, right retromolar, cheek and angle of mandible was seen in one patient each. About 16% patients had anterior, 66% had posterior and 18% had both anterior and posterior regions involved. Among the HPV positive reactive statistically, no significant difference was found with smoking, Paan and exposure to pesticides, factory or mine (p-value > 0.05). Among HPV positive reactive patients, eight had ameloblastoma whereas, 1 had ameloblastomic fibroma. There was no statistical significance of type, location and region of tumor in HPV positivity.
CONCLUSION
Mandible and posterior region was more commonly involved. Follicular pattern was most common. There was no effect of exposure to pesticides, factory or mine, smoke and human papilloma virus in the etiology of ameloblastoma because only 18% of patients showed the association of HPV16.
PubMed: 31777517
DOI: 10.12669/pjms.35.6.909 -
Journal of Medical Case Reports Oct 2021Desmoplastic fibroblastoma (also known as collagenous fibroma) is a benign, slowly growing soft-tissue tumor. Most desmoplastic fibroblastomas develop in the limbs,...
BACKGROUND
Desmoplastic fibroblastoma (also known as collagenous fibroma) is a benign, slowly growing soft-tissue tumor. Most desmoplastic fibroblastomas develop in the limbs, neck, or trunk. A mediastinal origin is quite rare.
CASE PRESENTATION
A 32-year-old Asian female was referred to us for the diagnosis and treatment of an anterior mediastinal tumor. The tumor was 80 mm in the largest diameter and was located on the pericardium. No invasion was evident. She underwent resection of the tumor via video-assisted thoracoscopic resection. The tumor was totally encapsulated, and its pedicle was on the pericardium. The resected specimen was very rigid, making it difficult to remove from the intercostal space. Histologically, the tumor was composed of a paucicellular dense collagenous tissue. Mitosis was rarely observed, and cellular atypia was not evident, suggesting that the tumor was benign. We diagnosed the tumor as a desmoplastic fibroblastoma by morphology and immunohistochemistry.
CONCLUSIONS
Desmoplastic fibroblastoma of the mediastinum is an extremely rare disease. Preoperative diagnosis is difficult. Early surgical resection is suitable for diagnosis and treatment planning.
Topics: Adult; Female; Fibroma, Desmoplastic; Humans; Immunohistochemistry; Mediastinum; Soft Tissue Neoplasms; Thoracic Wall
PubMed: 34663426
DOI: 10.1186/s13256-021-03014-x -
Modern Pathology : An Official Journal... Oct 2021Fibroma of tendon sheath (FTS) is an uncommon benign myofibroblastic neoplasm that arises in association with tenosynovial tissue. Fusions of the USP6 gene have been...
Fibroma of tendon sheath (FTS) is an uncommon benign myofibroblastic neoplasm that arises in association with tenosynovial tissue. Fusions of the USP6 gene have been recently documented in a proportion of so-called "cellular FTS" but not in "classic FTS". It remains unknown whether FTS can be defined by a USP6 fusion, regardless of cellularity, and what are USP6 fusion-negative "cellular FTS". Furthermore, FTS with low cellularity seems to be frequently confused with desmoplastic fibroblastoma. We performed a comprehensive analysis, including targeted RNA sequencing, of 58 consecutive cases originally diagnosed as FTS (n = 49), desmoplastic fibroblastoma (n = 6), or nodular fasciitis (n = 3); the latter two at the predilection sites for FTS. After review of the original slides, 28 lesions were morphologically classified as FTS (13 "classic" and 15 "cellular") and 23 as desmoplastic fibroblastoma. Among originally diagnosed FTS at the more cellular end of the spectrum, we identified seven lesions that shared many morphologic features of FTS but, in addition, showed several distinct morphologic features consistent with myofibroma, such as myoid appearance, branching thin-walled vessels, and perivascular growth. Targeted RNA sequencing showed a USP6 fusion in 17 of 18 analyzed FTS, regardless of cellularity, 0 of 5 desmoplastic fibroblastomas and 0 of 4 myofibromas. MYH9, COL1A1, and ASPN were identified as fusion partners in three cases each, and MIR22HG, CTNNB1, SPARC, CAP1, EMP1, LINC00152, NR1D1, and RAB1A in a single case each. FTS, regardless of cellularity, can be defined by a USP6 fusion with a variety of fusion partners. More cellular lesions exhibiting some morphologic features of FTS but lacking a USP6 fusion tend to be myofibromas.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Humans; Male; Middle Aged; Myofibroma; Oncogene Fusion; Soft Tissue Neoplasms; Tendons; Young Adult
PubMed: 34088995
DOI: 10.1038/s41379-021-00836-4 -
Surgical Neurology International 2015Fibrous dysplasia, ossifying fibroma, and desmoplastic fibroma are rare benign calvarial lesions, which can have local aggressive behavior. These tumors can present with...
BACKGROUND
Fibrous dysplasia, ossifying fibroma, and desmoplastic fibroma are rare benign calvarial lesions, which can have local aggressive behavior. These tumors can present with similar clinical and radiologic characteristics making diagnosis difficult at times.
CASE DESCRIPTION
A 16-year-old male presents after noting an indentation of his skull. Comparison with current and previous imaging revealed progressive erosion of the skull underlying the indentation.
CONCLUSION
Fibrous dysplasia, ossifying fibroma, and desmoplastic fibroma are rare fibro-osseous tumors with similar characteristics radiographically. Accurate diagnosis of these tumors can be difficult even with the combination of clinical presentation, imaging, and pathology. The treatment of choice is resection and cranial reconstruction, if necessary, with close follow-up as recurrence can occur.
PubMed: 25657865
DOI: 10.4103/2152-7806.149848 -
Journal of Surgical Case Reports Jan 2016Desmoplastic fibromas are rare, benign, locally aggressive bone tumors, which arise primarily in patients younger than 30 years old. Historically, even with greater...
Desmoplastic fibromas are rare, benign, locally aggressive bone tumors, which arise primarily in patients younger than 30 years old. Historically, even with greater functional loss, en bloc or wide resection of the tumors to prevent local recurrence has been the method of choice in treatment. This article discusses the presentation of a 10-year-old male who presented with a mass in the distal forearm, after reporting difficulty in pronation and supination. The patient was ultimately treated with wide resection and allo-arthrodesis with allograft. Post-operatively, the patient has exhibited excellent recovery, including normal range of motion at the shoulder and elbow, and ability to perform all activities of daily livings despite reduced grip strength compared with the contralateral side.
PubMed: 26767767
DOI: 10.1093/jscr/rjv171 -
BMJ Case Reports May 2013Desmoplastic ameloblastoma (DA) is a newly recognised, rare odontogenic neoplasm that is a histological variant of ameloblastoma. In this type, the islands of... (Review)
Review
Desmoplastic ameloblastoma (DA) is a newly recognised, rare odontogenic neoplasm that is a histological variant of ameloblastoma. In this type, the islands of ameloblastoma are surrounded and often compressed by a dense and sometimes hyalinised fibrous connective tissue. Although ameloblastomas are usually located in the mandible, this variant often occurs in the anterior maxilla. In view of the paucity of DA case series and only limited understanding of its biological behaviour and prognosis, proper treatment strategies for DA are not entirely defined so far. The purpose of this paper was to review the literature and to demonstrate a rare case for an improved understanding of the behaviour and prognosis of DA.
Topics: Ameloblastoma; Connective Tissue; Female; Fibroma, Desmoplastic; Humans; Maxilla; Maxillary Neoplasms; Middle Aged; Neoplasms, Squamous Cell; Radiography
PubMed: 23645643
DOI: 10.1136/bcr-2013-009079 -
Anais Brasileiros de Dermatologia 2019Desmoplastic melanoma, a distinct and uncommon variant, is characterized as an invasive lesion with proliferation of fusiform melanocytes in the dermis and subcutaneous...
Desmoplastic melanoma, a distinct and uncommon variant, is characterized as an invasive lesion with proliferation of fusiform melanocytes in the dermis and subcutaneous tissue, associated with varying patterns of desmoplasia. Neurotropism and neural differentiation may occur. The clinical presentation is variable and nonspecific, easily confused with other fibrous neoplasms. The disease is locally aggressive and shows lower metastasis rates than other types of melanoma. Histopathology may be insufficient, requiring positive immunohistochemistry for S-100 protein and other antigens of melanocytic differentiation. Because desmoplastic melanoma represents a true clinical, dermoscopic, and histopathological diagnostic challenge, a case of invasive desmoplastic melanoma is reported, affecting a photoexposed area in an elderly woman after histological revisions and an initial diagnosis of fibroma.
Topics: Aged; Dermoscopy; Female; Humans; Immunohistochemistry; Melanoma; Skin Neoplasms; Subcutaneous Tissue
PubMed: 30726469
DOI: 10.1590/abd1806-4841.20197481 -
Journal of Clinical and Experimental... Feb 2016Desmoplastic fibroblastoma is benign soft tissue tumor, with fibroblastic or myofibroblastic origin, that rarely occurs in oral cavity. We reported the case of a...
UNLABELLED
Desmoplastic fibroblastoma is benign soft tissue tumor, with fibroblastic or myofibroblastic origin, that rarely occurs in oral cavity. We reported the case of a 56-year-old man who presented a tumor in the left mandibular alveolar ridge, with slow and asymptomatic growth, with no osseous involvement. The tumor was sessile with lobulated surface, covered by healthy mucosa with erythematous areas. The lesion was excised and specimens sent to histopathology and immunohistochemistry. Histopathological exam showed a non-encapsulated fibroblastic proliferation, characterized by myofibroblasts, spindle and stellate fibroblasts with large or oval nuclei and bi or tri nucleation, immersed in an abundant hypocellular dense collagen stroma. Tumor cells were positive for vimentin, HHF35, α-smooth muscle actin and factor XIIIa. The diagnosis of desmoplastic fibroblastoma was based in the clinical history of absence of trauma related to the growth in the alveolar ridge, associated with macroscopic, microscopic and immunohistochemical features. The patient is free-diseases by eight months.
KEY WORDS
Collagenous fibroma, desmoplastic fibroblastoma, neoplasm of connective and soft tissue.
PubMed: 26855713
DOI: 10.4317/jced.52605