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.

Bibliography

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

Chondroblastoma

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

Chondroblastoma

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

Chondroblastoma

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

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

arrayMap	Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease database	Bone: Chondroblastoma

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Fri Jun 22 17:46:49 CEST 2018

For comments and suggestions or contributions, please contact us