RSS-Feed abonnieren
![](/products/assets/desktop/img/oa-logo.png)
DOI: 10.4103/0971-5851.133730
A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma
![](https://www.thieme-connect.de/media/10.1055-s-00050348/201401/lookinside/thumbnails/10_4103_0971-5851_133730_89-1.jpg)
Abstract
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.
Publikationsverlauf
Artikel online veröffentlicht:
19. Juli 2021
© 2014. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)
Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India
-
References
- 1 Iwamoto Y. Diagnosis and treatment of Ewing′s sarcoma. Jpn J Clin Oncol 2007;37:79-89.
- 2 Desmaze C, Brizard F, Turc-Carel C, Melot T, Delattre O, Thomas G, et al. Multiple chromosomal mechanisms generate an EWS/FLI1 or an EWS/ERG fusion gene in Ewing tumors. Cancer Genet Cytogenet 1997;97:12-9.
- 3 Ng TL, O′Sullivan MJ, Pallen CJ, Hayes M, Clarkson PW, Winstanley M, et al. Ewing sarcoma with novel translocation t(2;16) producing an in-frame fusion of FUS and FEV. J Mol Diagn 2007;9:459-63.
- 4 Gabriela Mercado, Frederic Barr. Chromosomal Translocations in Sarcomas: New Perspectives ESUN (http://sarcomahelp.org/newsletter/february_2006.html). A periodical for sarcoma community, ESUN 2006;3:1
- 5 Burt M, Karpeh M, Ukoha O, Bains MS, Martini N, McCormack PM, et al. Medical tumors of the chest wall. Solitary plasmacytoma and Ewing′s sarcoma. J Thorac Cardiovasc Surg 1993;105:89-96.
- 6 Owen LA, Kowalewski AA, Lessnick SL. EWS/FLI mediates transcriptional repression via NKX2.2 during oncogenic transformation in Ewing′s sarcoma. PLoS One 2008;3:e1965.
- 7 Toomey EC, Schiffman JD, Lessnick SL. Recent advances in the molecular pathogenesis of Ewing′s sarcoma. Oncogene 2010;29:4504-16.
- 8 Gorello P, La Starza R, Mecucci C. t(12;22)(p13;q12). Atlas Genet Cytogenet Oncol Haematol. November 2007. (http://AtlasGeneticsOncology.org/Anomalies/t1222p13q12ID1371.html)
- 9 ISCN. In: Mitelman F, editor. An International System for Human Cytogenetic Nomenclature. Basel: Karger; 1995.
- 10 Ambros IM, Ambros PF, Strehl S, Kovar H, Gadner H, Salzer-Kuntschik M. MIC2 is a specifi c marker for Ewing′s sarcoma and peripheral primitive neuroectodermal tumors. Evidence for a common histogenesis of Ewing′s sarcoma and peripheral primitive neuroectodermal tumors from MIC2 expression and specifi c chromosome aberration. Cancer 1991;67:1886-93.
- 11 Longtin R. Ewing′s sarcoma: A miracle drug waiting to happen? J Natl Cancer Inst 2003;95:1574-6.
- 12 Sorensen PH, Lessnick SL, Lopez-Terrada D, Liu XF, Triche TJ, Denny CT. A second Ewing′s sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG. Nat Genet 1994;6:146-51.
- 13 Jeon IS, Davis JN, Braun BS, Sublett JE, Roussel MF, Denny CT, et al. A variant Ewing′s sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. Oncogene 1995;10:1229-34.
- 14 Sumegi J, Nishio J, Nelson M, Frayer RW, Perry D, Bridge JA. A novel t(4;22)(q31;q12) produces an EWSR1-SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor. Mod Pathol 2011;24:333-42.
- 15 Whang-Peng J, Triche TJ, Knutsen T, Miser J, Kao-Shan S, Tsai S, et al. Cytogenetic characterization of selected small round cell tumors of childhood. Cancer Genet Cytogenet 1986;21:185-208.
- 16 Zielenska M, Zhang ZM, Ng K, Marrano P, Bayani J, Ramirez OC, et al. Acquisition of secondary structural chromosomal changes in pediatric ewing sarcoma is a probable prognostic factor for tumor response and clinical outcome. Cancer 2001;91:2156-64.
- 17 Wang L, Bhargava R, Zheng T, Wexler L, Collins MH, Roulston D, et al. Undifferentiated small round cell sarcomas with rare EWS gene fusions: Identifi cation of a novel EWSSP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions. J Mol Diagn 2007;9:498-509.