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Bone: Periosteal chondroma

Written2012-05Nilo Sakai Junior, Ricardo Karam Kalil
The Sarah Network of the Rehabilitation Hospitals, Surgical, Molecular Pathology Laboratories, Brasilia/DF, Brazil

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C400-C403,C408-C414,C418-C419 BONES & JOINTS
ICD-Morpho 9221/0 Periosteal chondroma
Atlas_Id 5334
Phylum Bones::Periosteal chondroma
Figure 1: MRI S/DP SPIR - This coronal view shows a hyperintense lobulated lesion on the anteromedial surface of the tibial metaphysic (courtesy of Dr. Ricardo Karam Kalil).

Classification

    Cartilaginous tumors of bone.

Clinics and Pathology

Disease Periosteal chondroma
Phenotype / cell stem origin Mesenchyme.
Embryonic origin Probably from the cambium layer of the periosteum.
Epidemiology Periosteal chondromas comprise less than 1% of bone neoplasms, have preference for the first 3 decades of life, although it can be seen in any age and men predominate over female patients 3:2. It usually affects the metaphysis of long bones, by far predominating in the femur, tibia or humerus.
Clinics Most frequently a swelling, sometimes associated to slight pain are the usual symptoms. Imaging show a well-delimited uniformly lucent lesion on the surface of bone situated over a saucerized, sclerotic depression of the cortex.
 
Figure 2: Tissue section, whole mount of the lesion, HE. This panoramic view of the same case as fig. 1 shows a bluish, cartilaginous lesion on the surface of bone, with sclerotic margins in the inner face, and partly covered by an external fibrous membrane (courtesy of Dr. Ricardo Karam Kalil).
Pathology Grossly, it is a well-circumscribed, rubbery, lobulated nodule, measuring less than 3cm in its greatest dimension, with a membranaceous periosteal covering over the external surface, and in direct contact with a dense bone cortex on its inner face.
Microscopically, it is a hyaline cartilage lobulated tumor; chondrocytes may be enlarged, hyperchromatic and with double nuclei, eliciting a histological differential diagnosis with surface chondrosarcoma and parosteal osteosarcoma. Focal myxoid changes may be seen.
 
Figure 3: Tissue section, HE, 20X - Mature lobular cartilaginous tissue constitutes the usual finding in periosteal chondromas (courtesy of Dr. Ricardo Karam Kalil). Figure 4: Tissue section, HE, 40X - Occasional lesions may show myxoid cartilaginous areas. Same case as fig. 1 (courtesy of Dr. Ricardo Karam Kalil).
Treatment Complete local surgical excision.
Evolution Periosteal chondroma is a slow growing tumor, rarely surpassing 3cm in its greatest dimension. If the lesion exceeds 5cm a serious possibility of malignancy must be considered.
Prognosis Excellent. Rare recurrences are cured by re-excision.

Cytogenetics

Note Cytogenetics studies of periosteal chondromas are scarse. A total of 7 cases with abnormal karyotypes have been reported (Table 1). No consistent abnormality has been detected, although we observed one case of a periosteal chondroma with a t(2;11)(q37;q13) (Sakai et al., 2011). This alteration was previously described in one enchondroma (Dahlen et al., 2003). Recently, Amary and colleagues reported that 56% of central and periosteal cartilaginous tumors contain somatically acquired, heterozygous mutations in isocitrate dehydrogenase 1 (IDH1) or IDH2 (Thomas, 2011). They identified 5 periosteal chondromas with IDH1/IDH2 mutation type (71.43%). IDH1/IDH2 mutations result in elevated levels of HIF-1a and the associated transcriptional activity of its target genes, and that these effects are mediated through low levels of a-ketoglutarate (Zhao et al., 2009). These genes are important in adaptation of cells to low oxygen tension and are involved in glucose metabolism, angiogenesis, cell motility and invasion functions that are important for tumor growth/progression.
Figure 5: Karyotype image of periosteal chondroma with t(2;11)(q37;q13) (courtesy of Dr. Nilo Sakai Junior).
Table 1: Cytogenetic data for periosteal chondroma (Mitelman et al., 2012).

Bibliography

IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours.
Amary MF, Bacsi K, Maggiani F, Damato S, Halai D, Berisha F, Pollock R, O'Donnell P, Grigoriadis A, Diss T, Eskandarpour M, Presneau N, Hogendoorn PC, Futreal A, Tirabosco R, Flanagan AM.
J Pathol. 2011 Jul;224(3):334-43. doi: 10.1002/path.2913. Epub 2011 May 19.
PMID 21598255
 
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
 
Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas.
Dahlen A, Mertens F, Rydholm A, Brosjo O, Wejde J, Mandahl N, Panagopoulos I.
Mod Pathol. 2003 Nov;16(11):1132-40.
PMID 14614053
 
IDH1 mutations are not found in cartilaginous tumours other than central and periosteal chondrosarcomas and enchondromas.
Damato S, Alorjani M, Bonar F, McCarthy SW, Cannon SR, O'Donnell P, Tirabosco R, Amary MF, Flanagan AM.
Histopathology. 2012 Jan;60(2):363-5. doi: 10.1111/j.1365-2559.2011.04010.x. Epub 2011 Nov 10.
PMID 22074484
 
Rearrangement of band q13 on both chromosomes 12 in a periosteal chondroma.
Mandahl N, Willen H, Rydholm A, Heim S, Mitelman F.
Genes Chromosomes Cancer. 1993 Feb;6(2):121-3.
PMID 7680888
 
Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer (2012).
Mitelman F, Johansson B and Mertens F (Eds.)
http://cgap.nci.nih.gov/Chromosomes/Mitelman
 
Cytogenetic findings in 14 benign cartilaginous neoplasms.
Sakai Junior N, Abe KT, Formigli LM, Pereira MF, de Oliveira MD, Cornelio DA, de La Roque Ferreira A, Kalil RK.
Cancer Genet. 2011 Apr;204(4):180-6.
PMID 21536235
 
Lessons from the deep study of rare tumours.
Thomas DM.
J Pathol. 2011 Jul;224(3):306-8. doi: 10.1002/path.2928.
PMID 21647885
 
Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha.
Zhao S, Lin Y, Xu W, Jiang W, Zha Z, Wang P, Yu W, Li Z, Gong L, Peng Y, Ding J, Lei Q, Guan KL, Xiong Y.
Science. 2009 Apr 10;324(5924):261-5.
PMID 19359588
 

Citation

This paper should be referenced as such :
Sakai, Jr N ; Kalil, RK
Bone: Periosteal chondroma
Atlas Genet Cytogenet Oncol Haematol. 2012;16(10):752-756.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/PeriostealChondromaID5334.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(2;11)(q37;q13)

External links

Mitelman database t(2;11)(q37;q13) [Case List]    t(2;11)(q37;q13) [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C40,C41) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseBone: Periosteal chondroma
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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