Muntean Andrea, Bergsträsser Eva, Diepold Miriam, Niggli Felix K, Betts David R
Department of Oncology, University Children's Hospital, Steinwiesstrasse 75, Zurich CH-8032, Switzerland.
Cancer Genet Cytogenet. 2008 Jan 15;180(2):145-8. doi: 10.1016/j.cancergencyto.2007.09.020.
Despite embryonal rhabdomyosarcoma (eRMS) representing the most frequent form of RMS, the karyotypic characterization of this tumor subtype is still incomplete. We report the karyotypic analysis of two new cases of infant-onset eRMS. Both cases had a hyperdiploid karyotype, including gain of chromosomes 2 and 8. Only one of the cases showed a structural aberration, an unbalanced rearrangement involving 4p. These cases, together with a review of the literature, suggest that a karyotypic subgroup exists in infant eRMS that is defined by hyperdiploidy (<53 chromosomes) and includes gain of chromosomes 2, 8, 11, and 17, with few or no structural aberrations. Hence, this report illustrates that distinct karyotypic subgroups may be found in eRMS, which ultimately may be shown to have prognostic relevance.
尽管胚胎性横纹肌肉瘤（eRMS）是横纹肌肉瘤最常见的形式，但该肿瘤亚型的核型特征仍不完整。我们报告了两例婴儿期发病的eRMS新病例的核型分析。两例均为超二倍体核型，包括2号和8号染色体增加。仅其中一例显示结构畸变，即涉及4p的不平衡重排。这些病例以及文献综述表明，婴儿eRMS中存在一个核型亚组，其定义为超二倍体（<53条染色体），包括2号、8号、11号和17号染色体增加，结构畸变很少或没有。因此，本报告表明，eRMS中可能存在不同的核型亚组，最终可能显示出与预后相关。
