National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Hum Pathol. 2012 Feb;43(2):299-302. doi: 10.1016/j.humpath.2011.03.010. Epub 2011 Jul 30.
Ectomesenchymoma is a rare mesenchymal malignancy occurring mainly in the pediatric population. The hallmark diagnostic features are a combination of sarcoma, usually rhabdomyosarcoma (RMS) with admixed ganglion cells. The lesion arises either in soft tissues or the cranial cavity, and outcomes vary considerably. Current knowledge about the genetics and biology of ectomesenchymoma is extremely limited with only 4 published karyotypes, showing overlaps only in trisomies 2, 8, and 11. Here, we describe a case with genetic findings that, in conjunction with preexisting observations, offer some additional insights into the genetic aberrations of ectomesenchymoma.
中胚层肾瘤是一种罕见的间叶性恶性肿瘤，主要发生在儿童人群中。其标志性的诊断特征是肉瘤的组合，通常是横纹肌肉瘤（RMS）与混合的神经节细胞。病变发生在软组织或颅腔中，结果差异很大。目前对中胚层肾瘤的遗传学和生物学的了解非常有限，仅有 4 例已发表的核型，仅在三体 2、8 和 11 中存在重叠。在这里，我们描述了一个具有遗传发现的病例，结合先前的观察结果，为中胚层肾瘤的遗传异常提供了一些额外的见解。
