Cytogenetic abnormalities in a rare case of giant cell osteogenic sarcoma

Abstract

The cytogenetic analysis of a rare, nonirradiated case of giant cell tumor of bone with osteogenic sarcoma transformation is presented for the first time in a 19-year-old female. Telomeric associations involving 4p, 8p, 11p, 14p, 17p, 17q, and 20q were observed. Additionally, monosomy 13, 11p abnormalities and marker chromosomes were identified in tumor cells. Chromosome 11 involvement, particularly 11p translocations and 11p telomeric associations, were frequently observed in the tumor cells obtained from our patient, which suggests that chromosome 11p may play a role in the development of giant cell osteogenic sarcoma.

Figure 1

Photomicrograph of original femoral giant cell tumor of bone. Note multiple mononuclear stromal cells surrounding the multinuclear giant cells A (×50), B (×125).

Figure 2

Photomicrographs of recurrent femoral giant cell tumor of bone demonstrating the production of neoplastic osteoid. A (×50), B (×125).

Figure 3

Karyotype from long-term culture of giant cell tumor/osteogenic sarcoma of the femur demonstrating a telomeric association and an 11p+. 86,XXXX, +3,−4,−6,−10,−10,tas(11p;14p),11p+,−14,−14,−14,−17, +21, +mar.

Figure 4

Three telomeric association examples observed in giant cell tumor/osteogenic sarcoma, from left to right: tas(1p;20q), tas(4p;11p), tas(Xp;11p).

Figure 5

Examples of the two different 11p chromosomes (e.g., 11p+, der(11)t(11;?)(p15;?) identified in giant cell tumor/osteogenic sarcoma. Two examples of 11p+ on the left and three examples of der(11) on the right (as described in the text).