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CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2014; 35(01): 89-92
DOI: 10.4103/0971-5851.133730
CASE REPORT

A rare case of translocation (12;22) (p13;Q) in Ewing′s sarcoma

S.K. Kousar Jahan
Department of Molecular Medicine, Cytogenetics Laboratory, Al Jawhara Centre, Arabian Gulf University, Manama, Kingdom of Bahrain
,
Mangala Gowri Mayanna
Department of Pathology Cytogenetics Unit, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India
,
B.L. Kavitha
Department of Pathology Cytogenetics Unit, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India
,
Akkamahadevi Patil
Department of Pathology Cytogenetics Unit, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India
,
Prasanna Kumari
Department of Pathology Cytogenetics Unit, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India
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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.

Keywords

Cytogenetics - Ewing′s sarcoma - karyotype


Publication History

Article published online:
19 July 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/.)

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