Bone: Chondroblastoma

Abstract

Abstract

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

Identity

ICD-Topo	C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho	9230/0 Chondroblastoma
Atlas_Id	5148
Phylum	Bones::Chondroblastoma
Note	Chondroblastoma is a locally aggressive, rarely metastasizing bone tumour typically affecting the epiphyses of long bones from individuals with an immature skeleton.
	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)

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.
	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.

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Citation

This paper should be referenced as such :

Cleven AH, Bovée JVMG

Bone: Chondroblastom

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Tumors/ChondroblastomaID5148.html

History of this paper:

Romeo, S ; Hogendoorn, PCW. Bone: Chondroblastoma. Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):205-207.

http://documents.irevues.inist.fr/bitstream/handle/2042/37999/07-2003-ChondroblastomaID5148.pdf

External links

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Disease database	Bone: Chondroblastoma

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