Primitive pineal tumor with retinoblastomatous and retinal/ciliary epithelial differentiation: an immunohistochemical study

A one year old boy was found to have a large tumor encompassing the pineal region and extending towards the third and lateral ventricles and quadrigeminal plate. The tumor was composed mostly of small, undifferentiated cells. Some small cells were arranged in Flexner-Wintersteiner rosettes and a few displayed fleurettes. The tumor contained immature cartilage and skeletal muscle and numerous clusters of pigmented epithelial-like cells which, histologically, resembled those found in melanotic neuroectodermal tumors of infancy (retinal anlage tumors) and retinal or ciliary epithelium. Immunologic stains demonstrated neurofilaments, synaptophysin and retinal S-antigen in some of the small cells and transthyretin in some of the epithelial-like cells. The findings indicate that certain primary pineal parenchymal tumors have features in common with tumors of the ocular medullary epithelium.