伴有染色体易位t(21;22)(q22;q12)的下颌骨尤因肉瘤

Mandibular Ewing sarcoma with chromosomal translocation t(21;22)(q22;q12).

作者信息

Shibasaki Maiko, Iwai Toshinori, Maegawa Jiro, Inayama Yoshiaki, Yokosuka Tomoko, Yokota Shumpei, Ohta Shinsuke, Matsui Yoshiro, Mitsudo Kenji, Tohnai Iwai

机构信息

Department of Oral and Maxillofacial Surgery, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.

出版信息

J Craniofac Surg. 2013 Jul;24(4):1469-72. doi: 10.1097/SCS.0b013e31829030ed.

DOI:10.1097/SCS.0b013e31829030ed

PMID:23851834

Abstract

Ewing sarcoma (ES) is a primary bone malignant neoplasm and is the second most common primary malignancy of the bone found in childhood and adolescence after osteosarcoma. ES has an annual frequency in the population younger than 20 years of approximately 2.9 per million. ES occurs most frequently in the long bones of the extremities and pelvis and very rarely in the jaw. Recently, it was revealed that chromosomal translocation t(11;22)(q24;q12), which fuses the EWS gene on chromosome 22 and the FLI-1 gene on chromosome 11, occurs in most cases of ES. We report here a rare case of mandibular ES in a 10-year-old child with chromosomal translocation t(21;22)(q22;q12) in which the EWS gene is fused with the ERG gene on chromosome 21.

摘要

尤因肉瘤（ES）是一种原发性骨恶性肿瘤，是儿童和青少年中仅次于骨肉瘤的第二常见的原发性骨恶性肿瘤。ES在20岁以下人群中的年发病率约为百万分之2.9。ES最常发生于四肢长骨和骨盆，极少发生于颌骨。最近发现，大多数ES病例存在染色体易位t(11;22)(q24;q12)，该易位使22号染色体上的EWS基因与11号染色体上的FLI-1基因融合。我们在此报告一例罕见的10岁儿童下颌骨ES病例，其存在染色体易位t(21;22)(q22;q12)，其中EWS基因与21号染色体上的ERG基因融合。