Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma

Chondromyxoid fibromas (CMF) are uncommon benign bone tumours, known for their moderate risk of local recurrence, that may manifest through various symptoms such as pain, swelling, tenderness, or be asymptomatic. Diagnosing CMF is challenging and requires a comprehensive, multidisciplinary diagnosti...

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Main Authors: Aleksandra Izabela Masłowska, Julia Sołek, Paulina Jagodzińska-Mucha, Marcin Braun, Hanna Romańska
Format: Article
Language:English
Published: Termedia Publishing House 2024-10-01
Series:Contemporary Oncology
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Online Access:https://www.termedia.pl/Diagnostic-challenge-in-chondromyxoid-fibroma-clinically-mimicking-neuroma,3,54977,1,1.html
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author Aleksandra Izabela Masłowska
Julia Sołek
Paulina Jagodzińska-Mucha
Marcin Braun
Hanna Romańska
author_facet Aleksandra Izabela Masłowska
Julia Sołek
Paulina Jagodzińska-Mucha
Marcin Braun
Hanna Romańska
author_sort Aleksandra Izabela Masłowska
collection DOAJ
description Chondromyxoid fibromas (CMF) are uncommon benign bone tumours, known for their moderate risk of local recurrence, that may manifest through various symptoms such as pain, swelling, tenderness, or be asymptomatic. Diagnosing CMF is challenging and requires a comprehensive, multidisciplinary diagnostic approach because the tumour frequently resembles numerous other bone lesions. This report describes a case of a 66-year-old female patient with a tumour in her right fibula. The initial diagnosis of a neuroma of the right tibial nerve was based on a magnetic resonance imaging scan. The lesion was surgically removed. Preliminarily subsequent histopathological evaluation identified the mass as a parosteal osteosarcoma. However, due to the uncharacteristic presentation of the tumour, further investigation was carried out. Using immunohistochemical and genetic analyses focused on the expression of MDM-2 and RB-1, along with an examination for alterations in the GNAS gene, the mass has been finally and conclusively identified as a chondromyxoid fibroma. This case demonstrates the ambiguity of the CMF presentation, the accurate diagnosis of which may frequently rely on additional diagnostic measures, including histopathology and targeted genetic tests. Furthermore, this report illustrates an atypical diagnostic journey, from an initial neuroma through a low-grade osteosarcoma, to a final benign chondromyxoid fibroma.
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institution Kabale University
issn 1428-2526
1897-4309
language English
publishDate 2024-10-01
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record_format Article
series Contemporary Oncology
spelling doaj-art-4e767cdb239a414db5fdc5a2a9e6f00f2025-01-27T11:19:22ZengTermedia Publishing HouseContemporary Oncology1428-25261897-43092024-10-0128326726910.5114/wo.2024.14408154977Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuromaAleksandra Izabela MasłowskaJulia SołekPaulina Jagodzińska-MuchaMarcin BraunHanna RomańskaChondromyxoid fibromas (CMF) are uncommon benign bone tumours, known for their moderate risk of local recurrence, that may manifest through various symptoms such as pain, swelling, tenderness, or be asymptomatic. Diagnosing CMF is challenging and requires a comprehensive, multidisciplinary diagnostic approach because the tumour frequently resembles numerous other bone lesions. This report describes a case of a 66-year-old female patient with a tumour in her right fibula. The initial diagnosis of a neuroma of the right tibial nerve was based on a magnetic resonance imaging scan. The lesion was surgically removed. Preliminarily subsequent histopathological evaluation identified the mass as a parosteal osteosarcoma. However, due to the uncharacteristic presentation of the tumour, further investigation was carried out. Using immunohistochemical and genetic analyses focused on the expression of MDM-2 and RB-1, along with an examination for alterations in the GNAS gene, the mass has been finally and conclusively identified as a chondromyxoid fibroma. This case demonstrates the ambiguity of the CMF presentation, the accurate diagnosis of which may frequently rely on additional diagnostic measures, including histopathology and targeted genetic tests. Furthermore, this report illustrates an atypical diagnostic journey, from an initial neuroma through a low-grade osteosarcoma, to a final benign chondromyxoid fibroma.https://www.termedia.pl/Diagnostic-challenge-in-chondromyxoid-fibroma-clinically-mimicking-neuroma,3,54977,1,1.htmldiagnosis bone tumour chondromyxoid fibroma benign cartilaginous tumour
spellingShingle Aleksandra Izabela Masłowska
Julia Sołek
Paulina Jagodzińska-Mucha
Marcin Braun
Hanna Romańska
Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
Contemporary Oncology
diagnosis
bone tumour
chondromyxoid fibroma
benign cartilaginous tumour
title Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
title_full Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
title_fullStr Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
title_full_unstemmed Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
title_short Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
title_sort diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma
topic diagnosis
bone tumour
chondromyxoid fibroma
benign cartilaginous tumour
url https://www.termedia.pl/Diagnostic-challenge-in-chondromyxoid-fibroma-clinically-mimicking-neuroma,3,54977,1,1.html
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AT paulinajagodzinskamucha diagnosticchallengeinchondromyxoidfibromaclinicallymimickingneuroma
AT marcinbraun diagnosticchallengeinchondromyxoidfibromaclinicallymimickingneuroma
AT hannaromanska diagnosticchallengeinchondromyxoidfibromaclinicallymimickingneuroma