Bone: Chondroblastoma

2017-11-01   Arjen Cleven , Judith Bovée 

1.Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands. J.V.M.G.Bovee@lumc.nl
2.Leiden University Medical Center, P.O. box 9600, L1-Q, 2300 RC Leiden, The Netherlands
3.Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands. J.V.M.G.Bovee@lumc.nl

Summary

Note

Chondroblastoma is a locally aggressive, rarely metastasizing bone tumour typically affecting the epiphyses of long bones from individuals with an immature skeleton.
Atlas Image
Radiology of Chondroblastoma.
Figures 1, 2 and 3: Typical radiological findings of a lytic eccentric lesion affecting the epyphysis of the humerus (1 RX, 2 NMR and 3 bone scan)

Abstract

Review on Chondroblastoma, with data on clinics, and the genes involved.

Clinics and Pathology

Epidemiology

Chondroblastoma is a rare neoplasm accounting for less than 1% of all bone tumors. Age of occurrence is usually between 10 and 25 years with a male predominance. Older age of presentation for skull lesions is reported.

Clinics

Usual symptom at presentation is mild localized pain. Radiologically it occurs more often as an eccentric lytic lesion, with sclerotic borders, involving epiphyses of the long bones.

Pathology

The tumour is composed of cellular and matrix rich areas. Cellular areas are made up of so called "chondroblasts": round, or polygonal cells, with an oval to round nucleus and with well-defined eosinophilic cytoplasm. Mainly in non-decalcified sections the chondroblasts appear focally delimited by a thin calcification rim, so called "chicken wire". Matrix rich areas are composed of different types of matrix: chondroid, osteoid, fibrous and rarely mature hyaline cartilage. Mitoses, always typical, can be quite frequent, especially in the cellular areas.
Immunohistochemical stainings show reactivity of the neoplastic cells for S-100 DOG1 (focal) and Vimentin; although several other antigens are reported to be expressed (i.e. Smooth muscle actin and Cytokeratin). Multinucleated giant cells, especially at the periphery of matrix-rich areas, are almost always found. An associated aneurysmal bone cyst occurs in about 1/3 of the cases.
Atlas Image
Histological features of chondroblastoma.
Figure 4: The cellular areas are made up of polygonal cells with scattered multinucleated giants cells (Haematoxylin-Eosin stain).
Figure 5: The polygonal cells are positive for S-100 immunostain.

Figure 6: The polygonal lesional cells are focally positive for DOG1

Treatment

Simple curettage is the standard treatment.

Evolution

Rate of recurrence is between 14-18% mainly occurring within 2 years, and showing a higher occurrence rate in case of temporal bone location. Rare lung metastases in benign chondroblastomas, are documented. However they are not progressive, and therefore simple observation is sufficient, if necessary followed by simple surgical resection.

Prognosis

The prognosis is good. Rare and doubtful malignant progression are described, but no universal criteria for this event are currently available, and several authors consider this as cases of a misdiagnosis.

Genetics

Note

Recently a specific driver mutation in the histone 3 gene H3F3B (K36M), was identified in approximately 95% of chondroblastomas. H3F3B mutation detection can be used as a diagnostic tool for the distinction of chondroblastoma from other giant cell-containing tumors. The mutation can be detected using a mutation specific antibody for the K36M mutation.

Cytogenetics

Cytogenetics morphological

DNA flow cytometry studies show chondroblastoma mainly to be a low proliferative diploid neoplasm, however aneuploid near-diploid populations have been reported.
Karyotypic results of 7 cases are available in the literature. No specific cytogenic abnormalities neither specific type of aberrations are reported sofar. However some chromosomes seem to be more often involved: 3 cases for chromosome 5, 2 for chromosome 8, 2 for chromosome 11 and 2 for chromosome 17.

Bibliography

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External Links

Citation

Arjen Cleven ; Judith Bovée

Bone: Chondroblastoma

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/5148/bone-chondroblastoma

Historical Card

2003-07-01 Bone: Chondroblastoma by  Salvatore Romeo,Pancras CW Hogendoorn 

Leiden University Medical Center, P.O. box 9600, L1-Q, 2300 RC Leiden, The Netherlands