Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
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 755 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. 756