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      Desmoplastic Fibroma of the Phalanx of the Hand: A Rare Case Report

      case-report

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          Abstract

          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.

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          Most cited references14

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          Desmoplastic fibroma of the bone. A report of two patients, review of the literature, and therapeutic implications.

          Desmoplastic fibroma (DF) is an extremely rare bone tumor. The recommendations for therapy are often based on limited personal experience, and the rate of local recurrence in the published cases is very high. Therefore, an analysis of treatment results of published cases was performed. Furthermore, DNA analysis of the tumors from two patients was also performed. The clinical, radiologic, and histologic data of two patients with DF of the long bones are presented. DNA flow cytometry was performed on both DFs, three cases of abdominal fibromatosis, and three cases of extraabdominal fibromatosis. One hundred eighty-nine patients analyzed in the literature and our own 2 patients were evaluated with regard to epidemiologic, clinical, and histologic data, with particular emphasis on treatment results. DNA analysis of the locally infiltrating tumors revealed indices of proliferation between 21.5% and 24%, noticeably elevated values in comparison with extraosseous desmoid tumors (8.04%). Magnetic resonance imaging (MRI) was most valuable for imaging the intraosseous and extraosseous extent of DF. The evaluation of 191 patients (189 from the literature, 2 of the authors) showed the numbers of males and females to be equivalent, with a mean age of 23 years. DF has been reported in almost all bones, with a tendency to occur in the mandible and the long bones. Approximately 12% of patients presented with a pathologic fracture (20 of 161 patients). Infiltrative growth in the soft tissue was documented in 48% of patients. Three patients developed metastases after local recurrence. Analyzing the treatment results, the authors found a recurrence rate of 55-72% after nonresection procedures, and 17% after resection. No recurrences are reported after resection with wide surgical margins. The recurrence rate of tumors of the extremities was 55%, and 25% of these patients eventually required an amputation. Considering the "semimalignant" character of this entity and the poor treatment results in patients with recurrent tumors, marginal or wide resection for primary treatment is recommended. The superior imaging quality of MRI greatly facilitates preoperative planning.
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            Desmoplastic fibroma of bone: an immunohistochemical study including beta-catenin expression and mutational analysis for beta-catenin.

            Desmoplastic fibroma of bone is a very rare primary bone tumor morphologically resembling desmoid-type fibromatosis, its much more common counterpart of soft tissue. The aim of this study is to investigate the immunohistochemical profile and the involvement of the beta-catenin pathway in desmoplastic fibroma as it is known in desmoid-type fibromatosis. Immunohistochemistry was performed on 13 cases of desmoplastic fibroma for muscle-specific markers, estrogen and progesterone receptors, CD117, beta-catenin, and the potential downstream target of beta-catenin, namely, cyclin D1. In all 13 cases, DNA sequencing was performed for the detection of activating beta-catenin gene mutations. There was no immunoreactivity of CD117, estrogen, and progesterone receptors. Seven cases were immunoreactive for one or more muscle-specific markers. In 6 cases, there was overexpression of beta-catenin in the cytoplasm; in one of these cases, there was also accumulation of beta-catenin in the nucleus. In 6 cases in which DNA sequencing was successful, no beta-catenin mutations were detected. Search in a national database showed that not a single case over a frame of 23 years was associated with occurrence of colon cancer in the same patient. The epidemiological, histological, and immunohistochemical findings in desmoplastic fibroma are suggestive of desmoplastic fibroma being the bony counterpart of the more common desmoid-type fibromatosis of soft tissue. However, the beta-catenin pathway does not seem to have the same essential role in the tumorigenesis of desmoplastic fibroma, as it has in desmoid-type fibromatosis.
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              Pathology and genetics of tumours of soft tissue and bone

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                Author and article information

                Journal
                Case Rep Oncol
                Case Rep Oncol
                CRO
                CRO
                Case Reports in Oncology
                S. Karger AG (Basel, Switzerland )
                1662-6575
                3 July 2023
                Jan-Dec 2023
                3 July 2023
                : 16
                : 1
                : 478-483
                Affiliations
                [a ]Department of Orthopaedics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
                [b ]Hospital Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
                [c ]Department of Pathology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia
                Author notes
                Correspondence to: Syurahbil Abdul Halim, syurhbil@ 123456usm.my
                Article
                529895
                10.1159/000529895
                10359671
                37485013
                49680be8-25f9-40bd-bead-7f40fa09e768
                © 2023 The Author(s). Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) ( http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.

                History
                : 11 January 2023
                : 20 February 2023
                : 2023
                Page count
                Figures: 3, References: 14, Pages: 6
                Funding
                There is no funding to be declared.
                Categories
                Case Report

                Oncology & Radiotherapy
                desmoplastic,fibroma,phalanges,benign
                Oncology & Radiotherapy
                desmoplastic, fibroma, phalanges, benign

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