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Atlas of Genetics and Cytogenetics
in Oncology and Haematology
INIST-CNRS
OPEN ACCESS JOURNAL
Solid Tumour Section
Short Communication
Bone: Periosteal chondroma
Nilo Sakai Junior, Ricardo Karam Kalil
The Sarah Network of the Rehabilitation Hospitals, Surgical and Molecular Pathology Laboratories,
Brasilia/DF, Brazil (NS, RKK)
Published in Atlas Database: May 2012
Online updated version : http://AtlasGeneticsOncology.org/Tumors/PeriostealChondromaID5334.html
DOI: 10.4267/2042/48155
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Classification
bone situated over a saucerized, sclerotic depression of
the cortex.
Cartilaginous tumors of bone.
Pathology
Clinics and 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.
Disease
Periosteal chondroma
Phenotype / cell stem origin
Mesenchyme.
Embryonic origin
Probably from the cambium layer of the periosteum.
Epidemiology
Treatment
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.
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.
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
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10)
Prognosis
Excellent. Rare recurrences are cured by re-excision.
752
Bone: Periosteal chondroma
Sakai Jr N, Kalil RK
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).
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).
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10)
753
Bone: Periosteal chondroma
Sakai Jr N, Kalil RK
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).
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10)
754
Bone: Periosteal chondroma
Sakai Jr N, Kalil RK
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).
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.
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
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10)
References
Mandahl N, Willén H, Rydholm A, Heim S, Mitelman F.
Rearrangement of band q13 on both chromosomes 12 in a
periosteal chondroma. Genes Chromosomes Cancer. 1993
Feb;6(2):121-3
Buddingh EP, Naumann S, Nelson M, Neffa JR, Birch N,
Bridge JA. Cytogenetic findings in benign cartilaginous
neoplasms. Cancer Genet Cytogenet. 2003 Mar;141(2):164-8
Dahlén A, Mertens F, Rydholm A, Brosjö O, Wejde J, Mandahl
N, Panagopoulos I. Fusion, disruption, and expression of
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Bone: Periosteal chondroma
Sakai Jr N, Kalil RK
HMGA2 in bone and soft tissue chondromas. Mod Pathol.
2003 Nov;16(11):1132-40
Cytogenetic findings in 14 benign cartilaginous neoplasms.
Cancer Genet. 2011 Apr;204(4):180-6
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. Gliomaderived mutations in IDH1 dominantly inhibit IDH1 catalytic
activity and induce HIF-1alpha. Science. 2009 Apr
10;324(5924):261-5
Thomas DM. Lessons from the deep study of rare tumours. J
Pathol. 2011 Jul;224(3):306-8
Damato S, Alorjani M, Bonar F, McCarthy SW, Cannon SR,
O'Donnell P, Tirabosco R, Amary MF, Flanagan AM. IDH1
mutations are not found in cartilaginous tumours other than
central and periosteal chondrosarcomas and enchondromas.
Histopathology. 2012 Jan;60(2):363-5
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. IDH1 and IDH2 mutations are frequent events in
central chondrosarcoma and central and periosteal
chondromas but not in other mesenchymal tumours. J Pathol.
2011 Jul;224(3):334-43
Mitelman F, Johansson B and Mertens F (Eds.). Mitelman
Database of Chromosome Aberrations and Gene Fusions in
Cancer (2012). http://cgap.nci.nih.gov/Chromosomes/Mitelman
This article should be referenced as such:
Sakai Junior N, Abe KT, Formigli LM, Pereira MF, de Oliveira
MD, Cornelio DA, de La Roque Ferreira A, Kalil RK.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(10)
Sakai Jr N, Kalil RK. Bone: Periosteal chondroma. Atlas Genet
Cytogenet Oncol Haematol. 2012; 16(10):752-756.
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