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Oxford Medical Case Reports Aug 2023Desmoplastic fibroma (DF) is an aggressive benign tumor that commonly affects long tubular bones. Also, the skull, mandible, pelvis and spine involvement have been...
Desmoplastic fibroma (DF) is an aggressive benign tumor that commonly affects long tubular bones. Also, the skull, mandible, pelvis and spine involvement have been reported. However, its occurrence in the scapula is extremely rare. In this case report, we present the challenging diagnosis and successful treatment of DF in a 27-year-old woman who had been experiencing worsening pain in her right shoulder for 5 years. Plain radiographs and magnetic resonance imaging revealed a lucent, trabeculated and expansile infiltrative lesion, disrupting the posterior cortex and extended to the posterior soft tissue. After ruling out malignancy through a core needle biopsy, the patient underwent wide surgical resection of the tumor, which involved a hemi-scapulectomy. And histologic diagnosis consistent with DF, no postoperative radiation was administered. Remarkably, the patient became pain-free just 2 weeks after surgery. Follow-up examinations, X-rays and computed tomography scans conducted 6 weeks, 6 months and 18 months after surgery revealed no signs of recurrence.
PubMed: 37637370
DOI: 10.1093/omcr/omad057 -
Cureus Jul 2023Desmoplastic fibroma (DF) is a rare, benign, yet locally aggressive bone tumor. It frequently affects the facial bones, and the mandible is the most commonly affected...
Desmoplastic fibroma (DF) is a rare, benign, yet locally aggressive bone tumor. It frequently affects the facial bones, and the mandible is the most commonly affected site. Treatment of choice is the removal of the tumor with resection of surrounding bone due to its aggressive behavior. We report a case of DF where the tumor showed resolution and almost complete bone deposition following enucleation. Although DF has a high recurrence rate, the patient remains disease-free 31 months post-surgery.
PubMed: 37602060
DOI: 10.7759/cureus.42213 -
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 -
Pediatric and Developmental Pathology :... 2023Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this... (Review)
Review
Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.
Topics: Humans; Child; Bone and Bones; Neck; Neoplasms; Odontogenic Tumors
PubMed: 37232383
DOI: 10.1177/10935266231170744 -
Child's Nervous System : ChNS :... Sep 2023Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of...
BACKGROUND
Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma.
CASE PRESENTATION
A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome.
CONCLUSION
Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.
Topics: Pregnancy; Male; Humans; Female; Infant; Basal Cell Nevus Syndrome; Medulloblastoma; Fibroma; Cerebellar Neoplasms
PubMed: 37160435
DOI: 10.1007/s00381-023-05970-9 -
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 -
Journal of Clinical Orthopaedics and... Feb 2023Desmoplastic fibroma of the calcaneum is a rare, locally aggressive tumour. A 24-year-old female presented with long-standing heel pain, with the collapse of the...
UNLABELLED
Desmoplastic fibroma of the calcaneum is a rare, locally aggressive tumour. A 24-year-old female presented with long-standing heel pain, with the collapse of the calcaneum (hindfoot) that was untreated for 7 years. Eradication of this locally aggressive lesion by adjuvant therapy and restoration of calcaneal bony morphology by allograft was an arduous and challenging task. At the final follow-up, the heel was painless, and the patient could walk normally without support.
CONCLUSION
Restoration of calcaneal height is challenging in young patients, and using structural allograft restores calcaneal and hindfoot morphology. Patient education about the high chances of recurrence despite surgical clearance is essential, and intraoperative adjuvant usage can reduce the recurrence.
PubMed: 36685776
DOI: 10.1016/j.jcot.2022.102088 -
Journal of Medical Case Reports Jan 2023Collagenous fibroma or desmoplastic fibroblastoma is a rare benign fibrous tissue tumor. It usually presents as a painless, slowly growing mass. Collagenous fibroma... (Review)
Review
BACKGROUND
Collagenous fibroma or desmoplastic fibroblastoma is a rare benign fibrous tissue tumor. It usually presents as a painless, slowly growing mass. Collagenous fibroma arises ordinarily inside the subcutaneous tissues or skeletal muscles. Histopathologically, the tumor consists of scattered stellate and spindle cells in a hypovascular collagenous stroma without atypia or infiltration. The oral cavity is a very uncommon site for desmoplastic fibroblastoma. Only 15 published articles in the literature reported the intraoral location. We present a case of collagenous fibroma with a bilateral distribution on the hard palate. This is the second case of bilateral collagenous fibroma after a previously reported one in literature; however, our case was larger, occupying almost the whole palate. We discuss the management of this rare tumor and how we can reach definite diagnosis.
CASE PRESENTATION
A 37-year-old Caucasian female patient had a huge bilateral firm palatal mass that caused breathing problems. There was no history of trauma and the patient had no relevant medical history Total surgical excision under general anesthesia was carried out and histopathological examination suggested a benign mesenchymal tumor. Immunohistochemistry was necessary to confirm the tumor origin and to exclude aggressive fibromatosis. A diagnosis of bilateral collagenous fibroma was reached. Six months after surgery, there was no recurring lesion and the patient's health was good.
CONCLUSIONS
Collagenous fibroma is a benign fibrous tissue tumor of unknown cause that is treated with simple excision. The prognosis is good with no recurrence. Reaching an accurate diagnosis is mandatory to avoid aggressive treatment since collagenous fibroma may be misdiagnosed as aggressive fibromatosis in case of massive size. Clinicians and pathologists should be aware of this unusual tumor for conservative management without side effects.
Topics: Humans; Female; Adult; Fibroma, Desmoplastic; Fibromatosis, Aggressive; Palate, Hard; Fibroma; Soft Tissue Neoplasms
PubMed: 36609451
DOI: 10.1186/s13256-022-03691-2 -
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