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Pancras C W Hogendoorn - One of the best experts on this subject based on the ideXlab platform.
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Recurrent Chromosome 22 Deletions in Osteoblastoma Affect Inhibitors of the Wnt/Beta-Catenin Signaling Pathway
2016Co-Authors: Karolin Hansen Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Karoly Szuhai, Pancras C W HogendoornAbstract:Osteoblastoma is a bone forming tumor with histological features highly similar to osteoid osteoma; the discrimination between the tumor types is based on size and growth pattern. The vast majority of Osteoblastomas are benign but there is a group of so-called aggressive Osteoblastomas that can be diagnostically challenging at the histopathological level. The genetic aberrations required for Osteoblastoma development are not known and no genetic difference between conventional and aggressive Osteoblastoma has been reported. In order to identify recurrent genomic aberrations of importance for tumor development we applied cytogenetic and/or SNP array analyses on nine conventional and two aggressive Osteoblastomas. The conventional Osteoblastomas showed few or no acquired genetic aberrations while the aggressive tumors displayed heavily rearranged genomes. In one of the aggressive Osteoblastomas, three neighboring regions in chromosome band 22q12 were homozygously deleted. Hemizygous deletions of these regions were found in two additional cases, one aggressive and one conventional. In total, 10 genes were recurrently and homozygously lost in Osteoblastoma. Four of them are functionally involved in regulating osteogenesis and/or tumorigenesis. MN1 and NF2 have previously been implicated in the development of leukemia and solid tumors, and ZNRF3 and KREMEN1 are inhibitors of the Wnt/beta-catenin signaling pathway. In line with deletions of the latter two genes, high beta-catenin protein expression has previously been reported i
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recurrent chromosome 22 deletions in Osteoblastoma affect inhibitors of the wnt beta catenin signaling pathway
PLOS ONE, 2013Co-Authors: Karolin Hansen Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Annemarie Cletonjansen, Karoly Szuhai, Pancras C W HogendoornAbstract:Osteoblastoma is a bone forming tumor with histological features highly similar to osteoid osteoma; the discrimination between the tumor types is based on size and growth pattern. The vast majority of Osteoblastomas are benign but there is a group of so-called aggressive Osteoblastomas that can be diagnostically challenging at the histopathological level. The genetic aberrations required for Osteoblastoma development are not known and no genetic difference between conventional and aggressive Osteoblastoma has been reported. In order to identify recurrent genomic aberrations of importance for tumor development we applied cytogenetic and/or SNP array analyses on nine conventional and two aggressive Osteoblastomas. The conventional Osteoblastomas showed few or no acquired genetic aberrations while the aggressive tumors displayed heavily rearranged genomes. In one of the aggressive Osteoblastomas, three neighboring regions in chromosome band 22q12 were homozygously deleted. Hemizygous deletions of these regions were found in two additional cases, one aggressive and one conventional. In total, 10 genes were recurrently and homozygously lost in Osteoblastoma. Four of them are functionally involved in regulating osteogenesis and/or tumorigenesis. MN1 and NF2 have previously been implicated in the development of leukemia and solid tumors, and ZNRF3 and KREMEN1 are inhibitors of the Wnt/beta-catenin signaling pathway. In line with deletions of the latter two genes, high beta-catenin protein expression has previously been reported in Osteoblastoma and aberrations affecting the Wnt/beta-catenin pathway have been found in other bone lesions, including osteoma and osteosarcoma.
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Gene expression signature of Osteoblastoma.
2013Co-Authors: Karolin H. Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Karoly Szuhai, Anne-marie Cleton-jansen, Pancras C W HogendoornAbstract:(A) Unsupervised principal component analysis based on the expression of the 1297 most variable genes (σ/σmax = 0.3) shows that the five Osteoblastomas form a group that has an expression profile separate from the osteosarcomas, mesenchymal stem cells, and osteoblasts differentiated in vitro from mesenchymal stem cells. The first three principal components, representing 34%, 10%, and 9% of the variance, are displayed. Lines connect the three nearest neighbors. By subsequently comparing Osteoblastoma and osteosarcoma, 140 genes showed a significantly different expression (p < 0.001, FDR < 0.01; Tables S2 and S3). (B) The differentially expressed genes are displayed in a heat map. Genes with high and low expression values are labeled in red and green, respectively. (C) Many of the highly expressed genes in Osteoblastoma are known to be involved in bone metabolism and at least four of them are induced by the Wnt/beta-catenin signaling pathway; BMP2, BMP4, PTGS2 and MMP16. Boxes range from the 25th to the 75th percentile. The box whiskers are set at the lowest data point value still within 1.5 times the box range of the lower box limit, and at the highest data point value still within 1.5 times the box range of the upper box limit. The median is displayed as a dotted band. Outliers are defined as data point values falling outside of the box whisker limits.
Marco Gambarotti - One of the best experts on this subject based on the ideXlab platform.
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Usefulness of β-catenin expression in the differential diagnosis of osteosarcoma, Osteoblastoma, and chondroblastoma
Virchows Archiv, 2021Co-Authors: Kivilcim Eren Erdogan, Marina Pacheco, Marco Gambarotti, Giovanna Magagnoli, Marta Sbaraglia, Tommaso Frisoni, Alberto Righi, Angelo Paolo Dei TosAbstract:The aim of this study is to assess the usefulness of beta-catenin immunohistochemical expression in the differential diagnosis of osteoid-producing primary tumors of bone. Seventy cases of osteoid-producing tumors of bone (24 conventional osteosarcomas, 18 Osteoblastomas, 13 Osteoblastoma-like osteosarcomas, 10 chondroblastomas, and 5 chondroblastoma-like osteosarcomas) diagnosed at Istituto Ortopedico Rizzoli were reviewed and evaluated for the intensity, extension, and subcellular distribution of immunohistochemical expression of beta-catenin. A majority of cases (73%, 51 cases) exhibited cytoplasmic and/or membranous positivity in varied degrees of intensity and proportion of positive cells, in the absence of nuclear staining. Fifteen cases (21%) were completely negative, including two Osteoblastomas, five chondroblastomas, three conventional osteosarcomas, four Osteoblastoma-like osteosarcomas, and one chondroblastoma-like osteosarcoma. A minority of cases (6%) including three Osteoblastoma-like osteosarcomas and one Osteoblastoma showed focal nuclear beta-catenin positivity with or without concomitant cytoplasmic staining. In the current series, beta-catenin showed not to be useful in the differential diagnosis of osteoid-producing primary bone tumors.
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can Osteoblastoma evolve to malignancy a challenge in the decision making process of a benign spine tumor
World Neurosurgery, 2020Co-Authors: Addisu Mesfin, Marco Gambarotti, S Boriani, S Bandiera, A GasbarriniAbstract:Background Osteoblastoma is a rare benign aggressive tumor, with one third occurring in the spine. Conversion of Osteoblastoma to osteosarcoma is uncommon, and histologically proven conversion has been rarely reported. Case Description Cases of 2 patients with rare occurrences of spinal Osteoblastomas recurring and transforming into osteosarcomas are presented. Initial presentation, treatment, imaging, and histology findings are described. The outcomes of the patients following surgical intervention for histologically diagnosed Osteoblastoma with subsequent transformation to osteosarcoma and relative management are described. A literature review of Osteoblastoma converting to osteosarcoma also is provided. Conclusions The rare occurrence of Osteoblastoma converting to osteosarcoma imparts several lessons, including performing Enneking appropriate surgery for benign aggressive tumors (Enneking stage 3) and always performing a biopsy, particularly at the time of recurrence if imaging is not pathognomonic for a benign primary spine tumor.
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Osteoblastoma like osteosarcoma high grade or low grade osteosarcoma
Histopathology, 2019Co-Authors: Marco Gambarotti, Piero Picci, Michael J Klein, Angelo Paolo Dei Tos, D Vanel, Dino Gibertoni, Alberto RighiAbstract:Aims Osteoblastoma-like osteosarcoma is a rare variant of osteosarcoma (1% of all osteosarcomas), histologically similar to Osteoblastoma. In the current World Health Organisation (WHO) classification, Osteoblastoma-like osteosarcoma is classified within the group of conventional (high-grade) osteosarcomas. However, several published cases have been actually regarded as low-grade malignant tumours. As strict morphological criteria to distinguish between low- and high-grade lesions are not available, we reviewed our series of Osteoblastoma-like osteosarcomas in the attempt to identify clinical and morphological features predictive of aggressiveness. Methods and results We retrieved 15 cases of Osteoblastoma-like osteosarcoma from the files of the Istituto Ortopedico Rizzoli. Patients received various treatments. Five patients developed metastasis and five patients developed local recurrences (all after incomplete surgery). Eleven patients were alive without disease, while four patients died of their disease. Statistical analysis revealed a statistically significant (P = 0.048) lower disease-free survival in patients with areas of conventional (high-grade) osteosarcoma. Conclusions With the important limitation of a small cohort of patients, the presence of areas of conventional (high-grade) osteosarcoma is the only parameter to predict the aggressiveness of Osteoblastoma-like osteosarcoma.
Alberto Righi - One of the best experts on this subject based on the ideXlab platform.
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Usefulness of β-catenin expression in the differential diagnosis of osteosarcoma, Osteoblastoma, and chondroblastoma
Virchows Archiv, 2021Co-Authors: Kivilcim Eren Erdogan, Marina Pacheco, Marco Gambarotti, Giovanna Magagnoli, Marta Sbaraglia, Tommaso Frisoni, Alberto Righi, Angelo Paolo Dei TosAbstract:The aim of this study is to assess the usefulness of beta-catenin immunohistochemical expression in the differential diagnosis of osteoid-producing primary tumors of bone. Seventy cases of osteoid-producing tumors of bone (24 conventional osteosarcomas, 18 Osteoblastomas, 13 Osteoblastoma-like osteosarcomas, 10 chondroblastomas, and 5 chondroblastoma-like osteosarcomas) diagnosed at Istituto Ortopedico Rizzoli were reviewed and evaluated for the intensity, extension, and subcellular distribution of immunohistochemical expression of beta-catenin. A majority of cases (73%, 51 cases) exhibited cytoplasmic and/or membranous positivity in varied degrees of intensity and proportion of positive cells, in the absence of nuclear staining. Fifteen cases (21%) were completely negative, including two Osteoblastomas, five chondroblastomas, three conventional osteosarcomas, four Osteoblastoma-like osteosarcomas, and one chondroblastoma-like osteosarcoma. A minority of cases (6%) including three Osteoblastoma-like osteosarcomas and one Osteoblastoma showed focal nuclear beta-catenin positivity with or without concomitant cytoplasmic staining. In the current series, beta-catenin showed not to be useful in the differential diagnosis of osteoid-producing primary bone tumors.
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Osteoblastoma like osteosarcoma high grade or low grade osteosarcoma
Histopathology, 2019Co-Authors: Marco Gambarotti, Piero Picci, Michael J Klein, Angelo Paolo Dei Tos, D Vanel, Dino Gibertoni, Alberto RighiAbstract:Aims Osteoblastoma-like osteosarcoma is a rare variant of osteosarcoma (1% of all osteosarcomas), histologically similar to Osteoblastoma. In the current World Health Organisation (WHO) classification, Osteoblastoma-like osteosarcoma is classified within the group of conventional (high-grade) osteosarcomas. However, several published cases have been actually regarded as low-grade malignant tumours. As strict morphological criteria to distinguish between low- and high-grade lesions are not available, we reviewed our series of Osteoblastoma-like osteosarcomas in the attempt to identify clinical and morphological features predictive of aggressiveness. Methods and results We retrieved 15 cases of Osteoblastoma-like osteosarcoma from the files of the Istituto Ortopedico Rizzoli. Patients received various treatments. Five patients developed metastasis and five patients developed local recurrences (all after incomplete surgery). Eleven patients were alive without disease, while four patients died of their disease. Statistical analysis revealed a statistically significant (P = 0.048) lower disease-free survival in patients with areas of conventional (high-grade) osteosarcoma. Conclusions With the important limitation of a small cohort of patients, the presence of areas of conventional (high-grade) osteosarcoma is the only parameter to predict the aggressiveness of Osteoblastoma-like osteosarcoma.
Karoly Szuhai - One of the best experts on this subject based on the ideXlab platform.
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utility of fos as diagnostic marker for osteoid osteoma and Osteoblastoma
Virchows Archiv, 2020Co-Authors: Suk Wai Lam, Karoly Szuhai, Arjen H G Cleven, H M Kroon, Inge Briairede H Bruijn, Judith V M G BoveeAbstract:Osteoid osteoma and Osteoblastoma are bone-forming tumors shown to harbor FOS (87%) and FOSB (3%) rearrangements. The aim was to evaluate the immunohistochemical expression of FOS and FOSB in these tumors in comparison to other bone tumors, to evaluate the influence of decalcification, and to correlate immunohistochemical findings with the underlying genetic alteration using fluorescence in situ hybridization (FISH). Immunohistochemistry using whole sections was performed on osteoid osteoma (n=23), Osteoblastoma (n=22), Osteoblastoma-like osteosarcoma (n=3), reactive (n=3), and proliferative (n=11) bone lesions. Immunoreactivity in giant cell tumor of bone (n=74), aneurysmal bone cyst (n=6), chondromyxoid fibroma (n=20), osteosarcoma (n=85), chondroblastoma (n=17), and clear cell chondrosarcoma (n=20) was assessed using tissue micro arrays. Strong nuclear expression of FOS in > 50% of the tumor cells was observed in all osteoid osteomas (22/22), in 57% of Osteoblastomas (12/21) and in 3/197 control cases. FOS immunoreactivity disappeared after > 3 days decalcification. FOS rearrangements were present in 94% of osteoid osteomas and Osteoblastomas, with a concordance of 86% between FISH and immunohistochemistry. Two Osteoblastomas (5%) were positive for FOSB, as opposed to 8/177 control cases. Additional FISH revealed no FOSB rearrangements in these cases. To conclude, in short decalcified biopsies, FOS immunohistochemistry can be used to diagnose osteoid osteoma and Osteoblastoma, as overexpression is seen in the majority, being rare in their mimics. FOS immunohistochemistry should not be used after long decalcification. Moreover, low level of focal expression found in other lesions and tissues might cause diagnostic problems, in which case FISH could be employed.
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Recurrent Chromosome 22 Deletions in Osteoblastoma Affect Inhibitors of the Wnt/Beta-Catenin Signaling Pathway
2016Co-Authors: Karolin Hansen Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Karoly Szuhai, Pancras C W HogendoornAbstract:Osteoblastoma is a bone forming tumor with histological features highly similar to osteoid osteoma; the discrimination between the tumor types is based on size and growth pattern. The vast majority of Osteoblastomas are benign but there is a group of so-called aggressive Osteoblastomas that can be diagnostically challenging at the histopathological level. The genetic aberrations required for Osteoblastoma development are not known and no genetic difference between conventional and aggressive Osteoblastoma has been reported. In order to identify recurrent genomic aberrations of importance for tumor development we applied cytogenetic and/or SNP array analyses on nine conventional and two aggressive Osteoblastomas. The conventional Osteoblastomas showed few or no acquired genetic aberrations while the aggressive tumors displayed heavily rearranged genomes. In one of the aggressive Osteoblastomas, three neighboring regions in chromosome band 22q12 were homozygously deleted. Hemizygous deletions of these regions were found in two additional cases, one aggressive and one conventional. In total, 10 genes were recurrently and homozygously lost in Osteoblastoma. Four of them are functionally involved in regulating osteogenesis and/or tumorigenesis. MN1 and NF2 have previously been implicated in the development of leukemia and solid tumors, and ZNRF3 and KREMEN1 are inhibitors of the Wnt/beta-catenin signaling pathway. In line with deletions of the latter two genes, high beta-catenin protein expression has previously been reported i
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recurrent chromosome 22 deletions in Osteoblastoma affect inhibitors of the wnt beta catenin signaling pathway
PLOS ONE, 2013Co-Authors: Karolin Hansen Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Annemarie Cletonjansen, Karoly Szuhai, Pancras C W HogendoornAbstract:Osteoblastoma is a bone forming tumor with histological features highly similar to osteoid osteoma; the discrimination between the tumor types is based on size and growth pattern. The vast majority of Osteoblastomas are benign but there is a group of so-called aggressive Osteoblastomas that can be diagnostically challenging at the histopathological level. The genetic aberrations required for Osteoblastoma development are not known and no genetic difference between conventional and aggressive Osteoblastoma has been reported. In order to identify recurrent genomic aberrations of importance for tumor development we applied cytogenetic and/or SNP array analyses on nine conventional and two aggressive Osteoblastomas. The conventional Osteoblastomas showed few or no acquired genetic aberrations while the aggressive tumors displayed heavily rearranged genomes. In one of the aggressive Osteoblastomas, three neighboring regions in chromosome band 22q12 were homozygously deleted. Hemizygous deletions of these regions were found in two additional cases, one aggressive and one conventional. In total, 10 genes were recurrently and homozygously lost in Osteoblastoma. Four of them are functionally involved in regulating osteogenesis and/or tumorigenesis. MN1 and NF2 have previously been implicated in the development of leukemia and solid tumors, and ZNRF3 and KREMEN1 are inhibitors of the Wnt/beta-catenin signaling pathway. In line with deletions of the latter two genes, high beta-catenin protein expression has previously been reported in Osteoblastoma and aberrations affecting the Wnt/beta-catenin pathway have been found in other bone lesions, including osteoma and osteosarcoma.
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Gene expression signature of Osteoblastoma.
2013Co-Authors: Karolin H. Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Karoly Szuhai, Anne-marie Cleton-jansen, Pancras C W HogendoornAbstract:(A) Unsupervised principal component analysis based on the expression of the 1297 most variable genes (σ/σmax = 0.3) shows that the five Osteoblastomas form a group that has an expression profile separate from the osteosarcomas, mesenchymal stem cells, and osteoblasts differentiated in vitro from mesenchymal stem cells. The first three principal components, representing 34%, 10%, and 9% of the variance, are displayed. Lines connect the three nearest neighbors. By subsequently comparing Osteoblastoma and osteosarcoma, 140 genes showed a significantly different expression (p < 0.001, FDR < 0.01; Tables S2 and S3). (B) The differentially expressed genes are displayed in a heat map. Genes with high and low expression values are labeled in red and green, respectively. (C) Many of the highly expressed genes in Osteoblastoma are known to be involved in bone metabolism and at least four of them are induced by the Wnt/beta-catenin signaling pathway; BMP2, BMP4, PTGS2 and MMP16. Boxes range from the 25th to the 75th percentile. The box whiskers are set at the lowest data point value still within 1.5 times the box range of the lower box limit, and at the highest data point value still within 1.5 times the box range of the upper box limit. The median is displayed as a dotted band. Outliers are defined as data point values falling outside of the box whisker limits.
Karolin Hansen Nord - One of the best experts on this subject based on the ideXlab platform.
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Recurrent Chromosome 22 Deletions in Osteoblastoma Affect Inhibitors of the Wnt/Beta-Catenin Signaling Pathway
2016Co-Authors: Karolin Hansen Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Karoly Szuhai, Pancras C W HogendoornAbstract:Osteoblastoma is a bone forming tumor with histological features highly similar to osteoid osteoma; the discrimination between the tumor types is based on size and growth pattern. The vast majority of Osteoblastomas are benign but there is a group of so-called aggressive Osteoblastomas that can be diagnostically challenging at the histopathological level. The genetic aberrations required for Osteoblastoma development are not known and no genetic difference between conventional and aggressive Osteoblastoma has been reported. In order to identify recurrent genomic aberrations of importance for tumor development we applied cytogenetic and/or SNP array analyses on nine conventional and two aggressive Osteoblastomas. The conventional Osteoblastomas showed few or no acquired genetic aberrations while the aggressive tumors displayed heavily rearranged genomes. In one of the aggressive Osteoblastomas, three neighboring regions in chromosome band 22q12 were homozygously deleted. Hemizygous deletions of these regions were found in two additional cases, one aggressive and one conventional. In total, 10 genes were recurrently and homozygously lost in Osteoblastoma. Four of them are functionally involved in regulating osteogenesis and/or tumorigenesis. MN1 and NF2 have previously been implicated in the development of leukemia and solid tumors, and ZNRF3 and KREMEN1 are inhibitors of the Wnt/beta-catenin signaling pathway. In line with deletions of the latter two genes, high beta-catenin protein expression has previously been reported i
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recurrent chromosome 22 deletions in Osteoblastoma affect inhibitors of the wnt beta catenin signaling pathway
PLOS ONE, 2013Co-Authors: Karolin Hansen Nord, Jenny Nilsson, Elsa Arbajian, Fredrik Vult Von Steyern, Otte Brosjo, Annemarie Cletonjansen, Karoly Szuhai, Pancras C W HogendoornAbstract:Osteoblastoma is a bone forming tumor with histological features highly similar to osteoid osteoma; the discrimination between the tumor types is based on size and growth pattern. The vast majority of Osteoblastomas are benign but there is a group of so-called aggressive Osteoblastomas that can be diagnostically challenging at the histopathological level. The genetic aberrations required for Osteoblastoma development are not known and no genetic difference between conventional and aggressive Osteoblastoma has been reported. In order to identify recurrent genomic aberrations of importance for tumor development we applied cytogenetic and/or SNP array analyses on nine conventional and two aggressive Osteoblastomas. The conventional Osteoblastomas showed few or no acquired genetic aberrations while the aggressive tumors displayed heavily rearranged genomes. In one of the aggressive Osteoblastomas, three neighboring regions in chromosome band 22q12 were homozygously deleted. Hemizygous deletions of these regions were found in two additional cases, one aggressive and one conventional. In total, 10 genes were recurrently and homozygously lost in Osteoblastoma. Four of them are functionally involved in regulating osteogenesis and/or tumorigenesis. MN1 and NF2 have previously been implicated in the development of leukemia and solid tumors, and ZNRF3 and KREMEN1 are inhibitors of the Wnt/beta-catenin signaling pathway. In line with deletions of the latter two genes, high beta-catenin protein expression has previously been reported in Osteoblastoma and aberrations affecting the Wnt/beta-catenin pathway have been found in other bone lesions, including osteoma and osteosarcoma.
