An Update on Clinicopathological, Imaging and Genetic Features of Desmoplastic Fibroblastoma (Collagenous Fibroma)

Nakayama, Shizuhide; Nishio, Jun; Aoki, Mikiko; Nabeshima, Kazuki; Yamamoto, Takuya

doi:10.21873/invivo.12233

Cited by 10 publications

(17 citation statements)

References 17 publications

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“…Blood vessels were quite numerous. This finding was opposite to the findings of other studies, where blood vessels were few [ 2 – 4 , 14 ]. Despite the presence of binucleated and trinucleated cells, giant cell fibroma was not considered, since it usually measures less than 1 cm [ 20 ].…”

Section: Discussioncontrasting

confidence: 99%

“…Histopathologically, the tumor is hypocellular, formed of stellate and spindle-shaped fibroblasts and myofibroblasts embedded in a densely collagenized or myxocollagenized stroma [ 2 ]. This tumor shows some similarities with other lesions like desmoid tumor and focal fibrous hyperplasia.…”

Section: Discussionmentioning

confidence: 99%

“…Collagenous fibroma or desmoplastic fibroblastoma is a rare benign soft tissue tumor that can occur in different body sites including arms, shoulders, legs, hands, and feet [ 1 ]. It is a hypocellular tumor of fibroblastic/myofibroblastic origin [ 2 ]. Males are more affected with peak incidence in the sixth decade [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

“…It usually presents as a painless, firm, slowly growing mass [ 4 ]. Treatment is by surgical excision with no evidence of recurrence [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

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Bilateral collagenous fibroma of the hard palate: a case report and review of the literature

et al. 2023

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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.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…It usually presents as a painless, firm, slowly growing mass [ 4 ]. Treatment is by surgical excision with no evidence of recurrence [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

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Bilateral collagenous fibroma of the hard palate: a case report and review of the literature

et al. 2023

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“…Mutations of the remaining two FOS genes, FOS Like 1 ( FOSL1 ) and FOS Like 2 ( FOSL2 ), have not been demonstrated in human tumours to date. In particular, although the benign fibrous tumour desmoplastic fibroblastoma (collagenous fibroma) is characterised by FOSL1 overexpression [ 8 ], cytogenetic studies have localised recurrent breakpoints to chromosome 11q12, adjacent to but not involving the FOSL1 gene [ 8 , 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma

Noon

Piggott

Trotman

et al. 2023

The Journal of Pathology

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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.

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Subcutaneous fibroblastoma resembling hemangioma: A case of benign tumor of the chest wall

Zubair,

Zulfi,

Yaqoob

et al. 2024

Clinical Case Reports

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An Update on Clinicopathological, Imaging and Genetic Features of Desmoplastic Fibroblastoma (Collagenous Fibroma)

Cited by 10 publications

References 17 publications

Bilateral collagenous fibroma of the hard palate: a case report and review of the literature

Bilateral collagenous fibroma of the hard palate: a case report and review of the literature

Recurrent FOSL1 rearrangements in desmoplastic fibroblastoma

Subcutaneous fibroblastoma resembling hemangioma: A case of benign tumor of the chest wall

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