Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma

Aleksandra Izabela Masłowska; Julia Sołek; Paulina Jagodzińska-Mucha; Marcin Braun; Hanna Romańska

doi:10.5114/wo.2024.144081

eISSN: 1897-4309
ISSN: 1428-2526

Contemporary Oncology/Współczesna Onkologia

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3/2024
vol. 28

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abstract:

Case report

Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma

Aleksandra Izabela Masłowska

¹

,

Julia Sołek

¹

,

Paulina Jagodzińska-Mucha

²

,

Marcin Braun

¹

,

Hanna Romańska

¹

Department of Pathology, Chair of Oncology, Medical University of Łódź, Łódź, Poland
Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Skłodowska-Curie National Research Institute of Oncology, Warsaw, Poland

Contemp Oncol (Pozn) 2024; 28 (3): 267–269

DOI: https://doi.org/10.5114/wo.2024.144081

Online publish date: 2024/10/15

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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.

keywords:

Diagnostic challenge in chondromyxoid fibroma clinically mimicking neuroma

Aleksandra Izabela Masłowska 1 , Julia Sołek 1 , Paulina Jagodzińska-Mucha 2 , Marcin Braun 1 , Hanna Romańska 1

diagnosis, bone tumour, chondromyxoid fibroma, benign cartilaginous tumour

Aleksandra Izabela Masłowska

¹

,

Julia Sołek

¹

,

Paulina Jagodzińska-Mucha

²

,

Marcin Braun

¹

,

Hanna Romańska

¹