A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma
Cytogenetic or immunohistochemical studies are often required to differentiate Ewing′s sarcoma (ES) from other small round cell tumors. Herein we report a case of 13-year-old boy who presented with a large presacral lesion. Hemogram and biochemical parameters were normal except lactate dehydrogenase...
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2014-01-01
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| Series: | Indian Journal of Medical and Paediatric Oncology |
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| Online Access: | http://www.ijmpo.org/article.asp?issn=0971-5851;year=2014;volume=35;issue=1;spage=89;epage=92;aulast=Kousar |
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| author | S K Kousar Jahan Mangala Gowri Mayanna B L Kavitha Akkamahadevi Patil Prasanna Kumari |
| author_facet | S K Kousar Jahan Mangala Gowri Mayanna B L Kavitha Akkamahadevi Patil Prasanna Kumari |
| author_sort | S K Kousar Jahan |
| collection | DOAJ |
| description | Cytogenetic or immunohistochemical studies are often required to differentiate Ewing′s sarcoma (ES) from other small round cell tumors. Herein we report a case of 13-year-old boy who presented with a large presacral lesion. Hemogram and biochemical parameters were normal except lactate dehydrogenase showing value of 96.40/IU/L, magnetic resonance imaging of the spine showed a large mass in presacral lesion (8 cm × 7 cm × 9 cm), with destruction of the sacrum (S2 S3 and S4) with interspinal extension. Bone scan showed multiple pelvic bone lesions, radiograph of chest, ultrasound of abdomen, pelvis and electrocardiogram were within normal limits. Bone marrow was not involved. Cells from the fine needle aspirate were cultured for short term using RPMI medium and karyotype obtained showed a t(12;22)(p12;q12) instead of the classic t(11;22). Diagnosis of ES was also confirmed by studies using immunohistochemistry for MIC2 which was positive, synaptophysin was inconclusive and leukocyte common antigen, desmin negative. This case provides evidence of the importance of chromosome 22, in the etiology of the disease. |
| format | Article |
| id | doaj-art-048a0bab79e74f2fb7ca567ec00118dc |
| institution | OA Journals |
| issn | 0971-5851 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Medical and Paediatric Oncology |
| spelling | doaj-art-048a0bab79e74f2fb7ca567ec00118dc2025-08-20T01:51:27ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Medical and Paediatric Oncology0971-58512014-01-01351899210.4103/0971-5851.133730A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcomaS K Kousar JahanMangala Gowri MayannaB L KavithaAkkamahadevi PatilPrasanna KumariCytogenetic or immunohistochemical studies are often required to differentiate Ewing′s sarcoma (ES) from other small round cell tumors. Herein we report a case of 13-year-old boy who presented with a large presacral lesion. Hemogram and biochemical parameters were normal except lactate dehydrogenase showing value of 96.40/IU/L, magnetic resonance imaging of the spine showed a large mass in presacral lesion (8 cm × 7 cm × 9 cm), with destruction of the sacrum (S2 S3 and S4) with interspinal extension. Bone scan showed multiple pelvic bone lesions, radiograph of chest, ultrasound of abdomen, pelvis and electrocardiogram were within normal limits. Bone marrow was not involved. Cells from the fine needle aspirate were cultured for short term using RPMI medium and karyotype obtained showed a t(12;22)(p12;q12) instead of the classic t(11;22). Diagnosis of ES was also confirmed by studies using immunohistochemistry for MIC2 which was positive, synaptophysin was inconclusive and leukocyte common antigen, desmin negative. This case provides evidence of the importance of chromosome 22, in the etiology of the disease.http://www.ijmpo.org/article.asp?issn=0971-5851;year=2014;volume=35;issue=1;spage=89;epage=92;aulast=KousarCytogeneticsEwing′s sarcomakaryotype |
| spellingShingle | S K Kousar Jahan Mangala Gowri Mayanna B L Kavitha Akkamahadevi Patil Prasanna Kumari A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma Indian Journal of Medical and Paediatric Oncology Cytogenetics Ewing′s sarcoma karyotype |
| title | A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma |
| title_full | A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma |
| title_fullStr | A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma |
| title_full_unstemmed | A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma |
| title_short | A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma |
| title_sort | rare case of translocation 12 22 p13 q in ewing s sarcoma |
| topic | Cytogenetics Ewing′s sarcoma karyotype |
| url | http://www.ijmpo.org/article.asp?issn=0971-5851;year=2014;volume=35;issue=1;spage=89;epage=92;aulast=Kousar |
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