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Case Reports in Orthopedics 2020Desmoplastic fibroma of the bone (DFB) is a notably rare, lytic, locally aggressive but nonmetastatic, primary benign bone tumor in patients less than 30 years old. As...
Desmoplastic fibroma of the bone (DFB) is a notably rare, lytic, locally aggressive but nonmetastatic, primary benign bone tumor in patients less than 30 years old. As the recommended primary treatment for DFB, wide resection is preferred to curettage from the perspective of recurrence but wide resection of DFB in the pelvis such as in the acetabulum could result in greater functional loss, suggesting the need for conservative treatments. However, there is no report on long-term follow-up following conservative treatment for DFB. The present case involved a 21-year-old woman with right hip pain. Radiological evaluation revealed a massive lesion throughout the right ilium and acetabulum with partial osteolysis, cortical destruction, marginal sclerosis, slight pseudotrabeculation, and bone expansion. Open biopsy from the ilium showed the proliferation of spindle cells in an abundant collagenous matrix without atypia and mitosis, suggesting a diagnosis of DFB. Conservative treatment was selected considering the risk of greater functional loss following wide ilium resection. An evaluation 10 years after follow-up showed a partially sclerotic lesion of the ilium and the absence of pain. The current case demonstrates that conservative therapy may be effective even in some cases of aggressive DFB.
PubMed: 32292618
DOI: 10.1155/2020/5380598 -
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke... Mar 2020
Topics: Fibroma, Desmoplastic; Humans; Parapharyngeal Space
PubMed: 32268699
DOI: 10.3760/cma.j.issn.1673-0860.2020.03.016 -
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 -
Oral Surgery, Oral Medicine, Oral... Apr 2020Desmoplastic fibroma of bone (DFB), a bone tumor, is considered to be an osseous counterpart of desmoid-type fibromatosis (DF). Herein, we report a case of DFB with...
Desmoplastic fibroma of bone (DFB), a bone tumor, is considered to be an osseous counterpart of desmoid-type fibromatosis (DF). Herein, we report a case of DFB with CTNNB1 point mutation. The 5-year-old male patient had complained of trismus and pain in the jaw. Magnetic resonance imaging revealed a mass in the left mandible. Radical treatment involved surgical resection. Microscopically, the lesion consisted of a bundle-like proliferation of uniform spindle-shaped cells with abundant collagenous stroma, which resembled DF. Immunohistochemical analysis revealed intranuclear accumulation of β-catenin in the tumor cells. Based on clinical and histologic analysis, we diagnosed the patient as having DFB. We examined the CTNNB1 and APC sequence and found an A-to-G transition at codon 41 of CTNNB1; i.e., Thr was substituted by Ala. Our findings suggest that the dysregulation of Wnt/β-catenin signaling pathway is related to the tumorigenesis of some cases of DFB. This hypothesis indicates that there are some cases of DFB in which nuclear positive expression of β-catenin is useful for diagnosis.
Topics: Child, Preschool; Fibroma, Desmoplastic; Humans; Male; Mutation; Point Mutation; Wnt Signaling Pathway; beta Catenin
PubMed: 31901437
DOI: 10.1016/j.oooo.2019.09.007 -
JBJS Case Connector Dec 2019We present the case of a 14-year-old male who presented with a pathologic elbow fracture. Imaging demonstrated a lytic distal humerus metaphyseal lesion with a soap...
CASE
We present the case of a 14-year-old male who presented with a pathologic elbow fracture. Imaging demonstrated a lytic distal humerus metaphyseal lesion with a soap bubble appearance. After fracture healing, frozen sections obtained at open biopsy suggested fibrous tissue; thus, curettage and bone grafting was performed. Pathology confirmed desmoplastic fibroma. The patient experienced a recurrence 18 months later and had repeat curettage and allograft strutting. He had no evidence of re-recurrence 2 years after the second surgery.
CONCLUSIONS
Desmoplastic fibroma may mimic the presentation of many bone lesions. Recurrence is common despite curettage and bone grafting. This patient performed well without wide resection.
Topics: Adolescent; Bone Neoplasms; Bone Transplantation; Curettage; Fibroma, Desmoplastic; Fractures, Spontaneous; Humans; Humerus; Male; Neoplasm Recurrence, Local; Elbow Injuries
PubMed: 31834017
DOI: 10.2106/JBJS.CC.18.00155 -
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 -
Autopsy & Case Reports 2019Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by...
Desmoplastic fibroma (DF) is a rare bone tumor, which is known to involve mostly the gnathic bones. In this setting, the clinical presentation is usually represented by a bulging tumor of the face. Radiologically, the tumor is usually characterized by an expansile lytic bone lesion. The histopathology of the tumor shows a poorly circumscribed hypocellular lesion rich in collagen fibers with interspersed spindle cells having bland nuclear chromatin. Despite the lack of mitoses and nuclear pleomorphism, DF has an aggressive nature, presenting as a destructive growth causing entrapment of neuro-vascular bundles, sinusitis, or trismus. Some cases of DF show mutations in the adenomatous polyposis coli pathway shown by nuclear localization of the β-catenin protein. Few reports showed an association with tuberous sclerosis, though most of these cases were sporadic. We discuss a rare case of desmoplastic fibroma involving the mandible, and a review of the literature of the DF cases involving the gnathic bones.
PubMed: 31641651
DOI: 10.4322/acr.2019.091 -
Zhonghua Kou Qiang Yi Xue Za Zhi =... Oct 2019
Topics: Fibroma, Desmoplastic; Humans; Mandible; Mandibular Neoplasms
PubMed: 31607008
DOI: 10.3760/cma.j.issn.1002-0098.2019.10.010 -
The British Journal of Oral &... Jan 2020Fibrous dysplasia may show locally aggressive behaviour reflecting secondary intralesional changes, extension to soft tissue, or malignant transformation. We report the...
Fibrous dysplasia may show locally aggressive behaviour reflecting secondary intralesional changes, extension to soft tissue, or malignant transformation. We report the case of a patient with polyostotic fibrous dysplasia who had a giant mandibular lesion consisting of histologically typical, genotypically-confirmed, fibrous dysplasia merged with a fibrotic and hypocellular desmoplastic fibroma-like tissue in which the same Gsα-R201H mutation was detected. The occurrence of the same mutation in both the fibrous dysplasia and areas of desmoplastic fibroma suggests that the fibroma-like tissue reflects an unusual secondary tissue change within an otherwise typical fibrous dysplasia. To the best of our knowledge, only four cases of fibrous dysplasia with desmoplastic fibroma-like tissue changes have been reported.
Topics: Bone Neoplasms; Fibroma; Fibroma, Desmoplastic; GTP-Binding Protein alpha Subunits, Gs; Humans; Mutation
PubMed: 31563484
DOI: 10.1016/j.bjoms.2019.09.006 -
Ear, Nose, & Throat Journal Jun 2021The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with...
The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with immunohistochemical and/or molecular tests. We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.4-cm midline nasal cavity mass involving the bony septum and extending into the base of the skull bilaterally. The moderate cellular fibroblastic proliferation revealed areas of thick keloid-like collagen bands and other areas with myxoid edematous stroma. Deep targeted sequencing identified a novel G34V mutation in the gene consistent with desmoid fibromatosis. An 11-month-old male infant presented with a right nasal mass that extended through the cribriform plate into the anterior cranial fossa and involved the right ethmoid sinus and adjacent right orbit. Histology revealed an infiltrative atypical fibrous proliferation with focal calcifications that was negative for and mutations. A novel E511K variant was identified in the tumor and later was also found in the germline and hence rendered of unknown significance. Both cases highlight the utility of next-generation sequencing in the evaluation of pediatric sinonasal spindle cell tumors that may have overlapping pathologic features. Reporting of rare or novel variants in tumor-only sequencing should be cautiously evaluated in children and pairing with germline sequencing may be needed to avoid the pitfall of assigning uncommon variants.
Topics: Child, Preschool; Chromogranins; Diagnosis, Differential; Female; Fibroma, Desmoplastic; GTP-Binding Protein alpha Subunits, Gs; High-Throughput Nucleotide Sequencing; Humans; Infant; Leiomyosarcoma; Male; Mutation; Paranasal Sinus Neoplasms; Skull Base Neoplasms; beta Catenin
PubMed: 31550935
DOI: 10.1177/0145561319863371