Lint: sarcoma-with-bcor-genetic-alteration

"Sarcomas with BCOR genetic alterations or BCOR sarcomas are uncommon malignant undifferentiated small round cell tumours of soft tissue and bone characterised by BCOR genetic alterations and comprise sarcomas with BCOR-related gene fusions as BCOR-CCNB3 sarcomas and other BCOR-rearranged sarcomas as well as sarcomas showing an internal tandem duplication (BCOR-ITD) such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumours of infancy."

"Sarcomas with BCOR genetic alterations are uncommon. BCOR-CCNB3 sarcomas are most commonly seen in children and adolescents with a male predilection ^1,2 whereas BCOR-rearranged soft tissue sarcomas have a wider age range ¹. Sarcomas with BCOR-internal tandem duplication are usually seen in the first year of life or at birth ¹."

"BCOR-CNNB3 sarcomas are characterised by the following histological features ^1-3:"

"Sarcomas with BCOR-ITD abnormalities show the following microscopic features ^1,2:"

"Immunohistochemistry stains show a diffuse and strong BCOR positivity and expression of SATB2, cyclin D1 and TLE1. There is CD99 expression in about half of the cases ^1,2. BCOR-CNNB3 are also positive for cyclin B3, which is negative in other BCOR positive tumours ¹."

"BCOR-CCNB3 tumours are treated with an Ewing sarcoma based treatment regimen with a similar response and survival rates of 72-80% after 5 years ^1,4. Patients often present with metastatic disease to lungs, bones soft tissues, brain and pancreas ^1,4. The prognosis of the other BCOR tumour types is variable and not well defined ¹."

"BCOR-CCNB3 sarcomas were first described by Gaëlle Pierron et al. in 2012 ^3-5."

"Sarcomas with BCOR genetic alterations or BCOR sarcomas are uncommon malignant undifferentiated small round cell tumours of soft tissue and bone characterised by BCOR genetic alterations and comprise sarcomas with BCOR-related gene fusions as BCOR-CCNB3 sarcomas and other BCOR-rearranged sarcomas as well as sarcomas showing an internal tandem duplication (BCOR-ITD) such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumours of infancy."

"Sarcomas with BCOR genetic alterations or BCOR sarcomas are uncommon malignant undifferentiated small round cell tumours of soft tissue and bone characterised by BCOR genetic alterations and comprise sarcomas with BCOR-related gene fusions as BCOR-CCNB3 sarcomas and other BCOR-rearranged sarcomas as well as sarcomas showing an internal tandem duplication (BCOR-ITD) such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumours of infancy."

"BCOR, SATB2 and cyclin D1 positivity on immunohistochemistry"

"Sarcomas with BCOR genetic alterations are small round cell tumours with substantial morphological overlap between the specific entities but diffuse BCOR positivity on immunohistochemistry ¹."

"The aetiology of sarcomas with BCOR genetic alterations is unknown."

"BCOR-CCNB3 sarcomas are more common in bone than in soft tissue with an estimated ratio of 3:2 and tend to be found in the following locations ¹:"

"Sarcomas with BCOR-ITD abnormalities show the following microscopic features ^1,2:"

"Immunohistochemistry stains show a diffuse and strong BCOR positivity and expression of SATB2, cyclin D1 and TLE1. There is CD99 expression in about half of the cases ^1,2. BCOR-CNNB3 are also positive for cyclin B3, which is negative in other BCOR positive tumours ¹."

"Immunohistochemistry stains show a diffuse and strong BCOR positivity and expression of SATB2, cyclin D1 and TLE1. There is CD99 expression in about half of the cases ^1,2. BCOR-CNNB3 are also positive for cyclin B3, which is negative in other BCOR positive tumours ¹."

"On plain radiographs BCOR sarcomas seem to show a variable appearance with most being described as lytic or mixed lytic-sclerotic and less often being mainly sclerotic ⁴. In long bones, they were found to have an aggressive periosteal reaction ⁴."

"On CT BCOR sarcomas have been described as well-defined tumours of soft tissue density and heterogeneous enhancement ⁴ and with signs of cortical destruction."

"On MRI BCOR sarcomas have been described as well-delineated soft tissue masses sometimes with necrosis or haemorrhage, cortical destruction and extensive and often circumferential soft tissue extension if present ⁴."

"BCOR-CCNB3 tumours are treated with an Ewing sarcoma based treatment regimen with a similar response and survival rates of 72-80% after 5 years ^1,4. Patients often present with metastatic disease to lungs, bones soft tissues, brain and pancreas ^1,4. The prognosis of the other BCOR tumour types is variable and not well defined ¹."

"Ewing sarcoma (BCOR and CCNB3 immunohistochemistry is usually negative)"

"Sarcomas with BCOR genetic alterations are small round cell tumours with substantial morphological overlap between the specific entities but diffuse BCOR positivity on immunohistochemistry ¹."

"The aetiology of sarcomas with BCOR genetic alterations is unknown."

"BCOR-CCNB3 sarcomas are more common in bone than in soft tissue with an estimated ratio of 3:2 and tend to be found in the following locations ¹:"

"Conditions that can mimic the appearance of sarcomas with BCOR genetic alterations include ^1-3:"

"Ewing sarcoma (BCOR and CCNB3 immunohistochemistry is usually negative)"