Chromosome 17 abnormalities in pediatric neuroblastic tumor with abundant neuropil and true rosettes

Although as a group, embryonal central nervous system tumors share a common background of primitive round cells, numerous distinctive histologic features allow for further subclassification. One tumor with a unique microscopic appearance is the recently described pediatric neuroblastic tumor with abundant neuropil and true rosettes (PNTANTR). We report 2 additional cases of this unusual tumor; both arose in 4-year-old children, one a midpontine tumor and the other a large cerebral lesion. The tumors contained hypercellular sheets of undifferentiated cells, broad zones of neuropil, and scattered perivascular, Homer Wright, and multilayered ependymoblastic-like rosettes. Isochromosome 17q was detected in multiple samples from one tumor, while the other tumor showed polysomy 17. No deletions of INI1 or amplifications of MYC or MYCN were detected. This report adds 2 cases to our experience of PNTANTR and is the first to demonstrate isochromosome 17q, a molecular alteration typical of medulloblastomas.