Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Bone: Chondroblastoma

Written2017-11Arjen Cleven, Judith Bovée
Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
This article is an update of :
2003-07Salvatore Romeo, Pancras CW Hogendoorn
Leiden University Medical Center, P.O. box 9600, L1-Q, 2300 RC Leiden, The Netherlands

(Note : for Links provided by Atlas : click)


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


ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho 9230/0 Chondroblastoma
Atlas_Id 5148
Phylum Bones::Chondroblastoma
WHO/OMS Classification Bones
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.


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.


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.


The H3F3 K36M mutant antibody is a sensitive and specific marker for the diagnosis of chondroblastoma
Amary MF, Berisha F, Mozela R, Gibbons R, Guttridge A, O'Donnell P, Baumhoer D, Tirabosco R, Flanagan AM
Histopathology 2016 Jul;69(1):121-7
PMID 26844533
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, Wedge DC, Cooke SL, Gundem G, Davies H, Nik-Zainal S, Martin S, McLaren S, Goodie V, Robinson B, Butler A, Teague JW, Halai D, Khatri B, Myklebost O, Baumhoer D, Jundt G, Hamoudi R, Tirabosco R, Amary MF, Futreal PA, Stratton MR, Campbell PJ, Flanagan AM
Nat Genet 2013 Dec;45(12):1479-82
PMID 24162739
Chondroblastoma of the temporal bone
Blaauw G, Prick JJ, Versteege C
Neurosurgery 1988 Jun;22(6 Pt 1):1102-7
PMID 3047595
Chondroblastoma: a clinical and radiological study of 104 cases
Bloem JL, Mulder JD
Skeletal Radiol 1985;14(1):1-9
PMID 4023729
Cartilage-forming tumours of bone and soft tissue and their differential diagnosis.
Bovee JV, Hogendoorn PC
Current Diagnostic Pathology. 2002 ; 7.
Chondroblastoma: an immunohistochemical study
Brecher ME, Simon MA
Hum Pathol 1988 Sep;19(9):1043-7
PMID 3417289
Biologic and clinical significance of cytogenetic and molecular cytogenetic abnormalities in benign and malignant cartilaginous lesions
Bridge JA, Bhatia PS, Anderson JR, Neff JR
Cancer Genet Cytogenet 1993 Sep;69(2):79-90
PMID 8402563
Benign and malignant cartilage tumors of bone and joint: their anatomic and theoretical basis with an emphasis on radiology, pathology and clinical biology
Brien EW, Mirra JM, Kerr R
I The intramedullary cartilage tumors
PMID 9229417
Cytogenetic findings in benign cartilaginous neoplasms
Buddingh EP, Naumann S, Nelson M, Neffa JR, Birch N, Bridge JA
Cancer Genet Cytogenet 2003 Mar;141(2):164-8
PMID 12606137
Epiphyseal chondroblastoma of bone
Caterini R, Manili M, Spinelli M, Santori FS, Ippolito E
Long-term effects on skeletal growth and articular function in 15 cases treated surgically Arch Orthop Trauma Surg
PMID 1449941
DOG1 expression in giant-cell-containing bone tumours
Cleven AH, Briaire-de Bruijn I, Szuhai K, Bovée JV
Histopathology 2016 May;68(6):942-5
PMID 26402312
Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma
Cleven AH, Höcker S, Briaire-de Bruijn I, Szuhai K, Cleton-Jansen AM, Bovée JV
Am J Surg Pathol 2015 Nov;39(11):1576-83
PMID 26457357
Cytophotometric studies of the nuclear DNA content in cartilaginous tumors
Cuvelier CA, Roels HJ
Cancer 1979 Oct;44(4):1363-74
PMID 498016
Chondroblastoma of bone
Edel G, Ueda Y, Nakanishi J, Brinker KH, Roessner A, Blasius S, Vestring T, Müller-Miny H, Erlemann R, Wuisman P
A clinical, radiological, light and immunohistochemical study Virchows Arch A Pathol Anat Histopathol
PMID 1384228
Chondroblastoma. In: Fletcher CDM, Unni KK, Mertens F, eds. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Soft Tissue and Bone.
Kilpatrick SE, Parisien M, Bridge JA
Lyon. : page I.
Histology and biology of metastatic chondroblastoma
Kunze E, Graewe T, Peitsch E
Report of a case with a review of the literature Pathol Res Pract
PMID 3588400
Chondroblastoma of bone
Kurt AM, Turcotte RE, McLeod RA, Unni KK, Sim FH
Orthopedics 1990 Jul;13(7):787-90
PMID 2197612
Human benign chondroblastoma with a pseudodiploid stemline characterized by a complex and balanced translocation
Mark J, Wedell B, Dahlenfors R, Grepp C, Burian P
Cancer Genet Cytogenet 1992 Jan;58(1):14-7
PMID 1728944
Ultrastructural cytochemical demonstration of proteoglycans and calcium in the extracellular matrix of chondroblastomas
Mii Y, Miyauchi Y, Morishita T, Miura S, Honoki K, Aoki M, Tamai S
Hum Pathol 1994 Dec;25(12):1290-4
PMID 8001922
S-100 protein immunostaining in the differential diagnosis of chondroblastoma
Monda L, Wick MR
Hum Pathol 1985 Mar;16(3):287-93
PMID 2579018
Radiologic case study
Monticciolo DL, Brown NL
Chondroblastoma Orthopedics
PMID 3628108
Immunohistochemical distribution of S-100 protein in tumors and tumor-like lesions of bone and cartilage
Okajima K, Honda I, Kitagawa T
Cancer 1988 Feb 15;61(4):792-9
PMID 3276387
Pflueger P, Heinrich SD, Craver R
Orthopedics 1993 Mar;16(3):339-42
PMID 8464774
Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: osteosarcoma and related tumors
Sandberg AA, Bridge JA
Cancer Genet Cytogenet 2003 Aug;145(1):1-30
PMID 12885459
Benign cartilage tumors
Scarborough MT, Moreau G
Orthop Clin North Am 1996 Jul;27(3):583-9
PMID 8649739
Cytokeratin expression in chondroblastomas
Semmelink HJ, Pruszczynski M, Wiersma-van Tilburg A, Smedts F, Ramaekers FC
Histopathology 1990 Mar;16(3):257-63
PMID 1692005
Springfield DS, Capanna R, Gherlinzoni F, Picci P, Campanacci M
A review of seventy cases J Bone Joint Surg Am
PMID 3997927
Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours
Tallini G, Dorfman H, Brys P, Dal Cin P, De Wever I, Fletcher CD, Jonson K, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Samson I, Sciot R, Van den Berghe H, Vanni R, Willén H
A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group J Pathol
PMID 11793371
Turcotte RE, Kurt AM, Sim FH, Unni KK, McLeod RA
Hum Pathol 1993 Sep;24(9):944-9
PMID 8253461
Chondroblastoma of the temporal bone
Varvares MA, Cheney ML, Goodman ML, Ceisler E, Montgomery WW
Case report and literature review Ann Otol Rhinol Laryngol
PMID 1514755
Chondroblastoma: classic and confusing appearance at MR imaging
Weatherall PT, Maale GE, Mendelsohn DB, Sherry CS, Erdman WE, Pascoe HR
Radiology 1994 Feb;190(2):467-74
PMID 8284401
Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: a case report and review of the literature
van Zelderen-Bhola SL, Bovée JV, Wessels HW, Mollevanger P, Nijhuis JV, van Eendenburg JD, Taminiau AH, Hogendoorn PC
Cancer Genet Cytogenet 1998 Sep;105(2):109-12


This paper should be referenced as such :
Arjen Cleven, Judith Bove
Bone: Chondroblastoma
Atlas Genet Cytogenet Oncol Haematol. 2018;22(11):475-478.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Romeo, S ; Hogendoorn, PCW. Bone: Chondroblastoma. Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):205-207.

External links

arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaseBone: Chondroblastoma
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Dec 14 18:30:19 CET 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us