胚胎性横纹肌肉瘤中的一种新型t(2;20)(q35;p12)。

A novel t(2;20)(q35;p12) in embryonal rhabdomyosarcoma.

作者信息

Ho Richard H, Johnson Joyce, Dev Vaithilingam G, Whitlock James A

机构信息

Division of Pediatric Hematology/Oncology, Department of Pediatrics, Vanderbilt University Medical Center, 2220 Pierce Avenue, Nashville, TN 37232-6310, USA.

出版信息

Cancer Genet Cytogenet. 2004 May;151(1):73-7. doi: 10.1016/j.cancergencyto.2003.08.023.

DOI:10.1016/j.cancergencyto.2003.08.023

PMID:15120913

Abstract

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma of childhood, accounting for 5%-8% of all pediatric malignancies. RMS can be categorized into several subtypes, including embryonal RMS (ERMS), the botryoid and spindle cell variants of ERMS, and alveolar RMS (ARMS). The t(2;13)(q35;q14) and the variant t(1;13)(p36;q14) are seen in a majority of ARMS cases. In contrast, the embryonal subtype of rhabdomyosarcoma has not been associated with a recurring chromosomal translocation. We describe here a novel chromosomal t(2;20)(q35;p12) occurring in a case of childhood RMS with embryonal histology. It is notable that this translocation harbors breakpoints at or near the locus of the PAX3 gene, which is involved in the most common recurring translocation associated with ARMS.

摘要

横纹肌肉瘤（RMS）是儿童期最常见的软组织肉瘤，占所有儿童恶性肿瘤的5%-8%。RMS可分为几种亚型，包括胚胎型RMS（ERMS）、ERMS的葡萄状和梭形细胞变体以及腺泡状RMS（ARMS）。大多数ARMS病例中可见t(2;13)(q35;q14)和变异型t(1;13)(p36;q14)。相比之下，横纹肌肉瘤的胚胎型亚型尚未与复发性染色体易位相关联。我们在此描述了一例具有胚胎组织学特征的儿童RMS病例中出现的一种新的染色体t(2;20)(q35;p12)。值得注意的是，这种易位在PAX3基因位点或其附近存在断点，而PAX3基因与ARMS相关的最常见复发性易位有关。