Giant cell tumor in the skull of a 9-year-old child: immunohistochemistry to confirm a diagnosis rare for age and site

Abstract

Giant cell tumor of the bone is usually located within the epiphysis of a long bone, the majority of the lesions occurring in the third and fourth decades of life. We report an unusual case of giant cell tumor (GCT) arising in the parietal skull bone of a 9-year-old girl. The tumor exhibited histologic findings typical for GCT, with conspicuous intravascular giant cells. Based on microscopic features, not only conditions like aneurysmal bone cyst or bone changes associated with hyperparathyroidism but also tumors such as chondroblastoma or osteosarcoma had to be considered. Immunohistochemistry revealed strong reactivity of the tumor giant cells and normal bone osteoclasts with CD68 but not Mac-387; tumor stromal cells were uniformly negative for both. The stromal cells exhibited two immunohistochemically distinct phenotypes. One, involving 50-80% of the tumor cells, exhibited negative lysozyme staining with positivity of proliferating cell nuclear antigen (PCNA) in about 30% of the nuclei. The other showed reactivity with lysozyme but negative PCNA staining. Immunohistochemistry thus helped to distinguish chondroblastoma and osteosarcoma, in which lysozyme positivity would reside in macrophages but not within stromal cells. Instead, chondroblastoma would exhibit protein S-100 positivity in the tumor cells. The biological behavior of GCT is difficult to predict based on morphology alone, although the malignant potential seems to rest in the stromal cells rather than the giant cells. Specifically, in reported cases, the intravascular occurrence of giant cells in GCT is not associated with an increased incidence of metastasis.