Fibrocartilaginous mesenchymoma of bone: a single-institution experience with molecular investigations and a review of the literature

Marco Gambarotti, Alberto Righi, Daniel Vanel, Stefania Cocchi, Stefania Benini, Francesca M. Elli, Giovanna Mantovani, Pietro Ruggieri, Stefano Boriani, Davide M. Donati, Marta Sbaraglia, Angelo P. Dei Tos, Piero Picci

Research output: Contribution to journalArticle

Abstract

Aims: Fibrocartilaginous mesenchymoma is a rare intraosseous lesion, with a total of 26 cases described in the literature. This study describes the clinical, radiological and histological features of eight new cases of fibrocartilaginous mesenchymoma collected at a single institution between 1982 and 2016. The presence of GNAS and IDH1/2 mutations and MDM2 amplification was explored to evaluate possible links between fibrocartilaginous mesenchymoma, fibrous dysplasia, de-differentiated chondrosarcoma and low-grade osteosarcoma. Methods and results: Eight new cases of fibrocartilaginous mesenchymoma of bone identified in our archives, dating from 1982 to 2016, were reviewed. The diagnosis was not performed on the initial biopsy in any of these cases, due mainly to the absence of obvious cartilaginous differentiation. On imaging, the tumour contained cartilaginous calcifications and showed a very strong uptake of contrast medium after injection. Histologically, the tumour was characterized by spindle cell proliferation mimicking a low-grade spindle cell sarcoma, associated with epiphyseal growth-plate-like nodules of cartilage and bone production. Molecularly, no GNAS and IDH1/2 mutations or MDM2 amplification were found in the cases analysed. Only one case recurred 1 year following intralesional resection. None died of disease. Conclusions: This very rare bone tumour has a typical radiological and histological pattern and a favourable survival outcome after treatment. Local recurrences can be prevented with complete surgery. Fibrocartilaginous mesenchymoma does not seem to be related genetically to fibrous dysplasia, low-grade osteosarcoma and de-differentiated chondrosarcoma.

Original languageEnglish
Pages (from-to)134-142
Number of pages9
JournalHistopathology
Volume71
Issue number1
DOIs
Publication statusPublished - Jul 1 2017

Fingerprint

Mesenchymoma
Bone and Bones
Chondrosarcoma
Growth Plate
Osteosarcoma
Neoplasms
Mutation
Sarcoma
Contrast Media
Cartilage
Cell Proliferation
Biopsy
Recurrence
Injections

Keywords

  • bone tumours
  • fibrocartilaginous mesenchymoma
  • GNAS
  • MDM2

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

Cite this

Fibrocartilaginous mesenchymoma of bone : a single-institution experience with molecular investigations and a review of the literature. / Gambarotti, Marco; Righi, Alberto; Vanel, Daniel; Cocchi, Stefania; Benini, Stefania; Elli, Francesca M.; Mantovani, Giovanna; Ruggieri, Pietro; Boriani, Stefano; Donati, Davide M.; Sbaraglia, Marta; Dei Tos, Angelo P.; Picci, Piero.

In: Histopathology, Vol. 71, No. 1, 01.07.2017, p. 134-142.

Research output: Contribution to journalArticle

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abstract = "Aims: Fibrocartilaginous mesenchymoma is a rare intraosseous lesion, with a total of 26 cases described in the literature. This study describes the clinical, radiological and histological features of eight new cases of fibrocartilaginous mesenchymoma collected at a single institution between 1982 and 2016. The presence of GNAS and IDH1/2 mutations and MDM2 amplification was explored to evaluate possible links between fibrocartilaginous mesenchymoma, fibrous dysplasia, de-differentiated chondrosarcoma and low-grade osteosarcoma. Methods and results: Eight new cases of fibrocartilaginous mesenchymoma of bone identified in our archives, dating from 1982 to 2016, were reviewed. The diagnosis was not performed on the initial biopsy in any of these cases, due mainly to the absence of obvious cartilaginous differentiation. On imaging, the tumour contained cartilaginous calcifications and showed a very strong uptake of contrast medium after injection. Histologically, the tumour was characterized by spindle cell proliferation mimicking a low-grade spindle cell sarcoma, associated with epiphyseal growth-plate-like nodules of cartilage and bone production. Molecularly, no GNAS and IDH1/2 mutations or MDM2 amplification were found in the cases analysed. Only one case recurred 1 year following intralesional resection. None died of disease. Conclusions: This very rare bone tumour has a typical radiological and histological pattern and a favourable survival outcome after treatment. Local recurrences can be prevented with complete surgery. Fibrocartilaginous mesenchymoma does not seem to be related genetically to fibrous dysplasia, low-grade osteosarcoma and de-differentiated chondrosarcoma.",
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AU - Cocchi, Stefania

AU - Benini, Stefania

AU - Elli, Francesca M.

AU - Mantovani, Giovanna

AU - Ruggieri, Pietro

AU - Boriani, Stefano

AU - Donati, Davide M.

AU - Sbaraglia, Marta

AU - Dei Tos, Angelo P.

AU - Picci, Piero

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