Extra copies of chromosomes 7, 8, 12, 19, and 21 are recurrent in adamantinoma

Abstract

Adamantinoma of long bones is a rare neoplasm predominantly involving the tibia. Cytogenetic studies of adamantinoma are few. Cytogenetic or molecular cytogenetic analysis of four adamantinomas, and a review of eleven cases in the literature reveals extra copies of chromosomes 7, 8, 12, 19, and 21 as recurrent in this neoplasm. Adamantinoma may be confused with a variety of primary and metastatic epithelial and mesenchymal neoplasms. Observation of these aneuploidies may be useful in establishing the diagnosis of adamantinoma.

Figure 1.

The Case 2 lesion involving the anterior cortex has multiple radiolucent defects surrounded by areas of cortical thickening and a thick rim of reactive bone at the base. One can observe indolent progression of the radiolucent areas from the first film taken July, 1995 (left) to subsequent ones obtained May, 1996 (center) and December, 1999 (right).

Figure 2.

A: The medullary side of a portion of the reactive cortex is at the top of the left hand corner. It is fairly mature, but lacks well-developed Harversian systems and stress lines. Connected to it and protruding toward the underlying lesion, are thickened trabeculae of irregular, immature bone variably rimmed by osteoblasts. Osteoclastic remodeling can be seen in the lower right hand corner. B: The center of the lesion is characterized by a bland proliferation of cells having spindle shaped, often slender, nuclei arranged in a loose storiform pattern. Embedded within this stroma are two nests of epithelial cells. C: An immunohistochemical preparation for cytokeratins highlights three nests of epithelial cells. In addition, multiple keratin reactive single cells within the stroma, not otherwise detectable, can be appreciated.

Figure 3.

GTG-banded karyotype of Case 1: 54, XX,−1,+5,+der(7)t(?1;7)(?q21;q22),+der(8)t(1;8)(q21;q24.3),+der(q)t(1:9)(p32;q34),+19,+20,+ 21,+mar1,+mar2.

Figure 4.

GTG-banded karyotype of the primary clone in Case 2: 54, XY,+5,+7,+8,+12,+12,+14,+19,+21.

Figure 5.

A: FISH analysis performed on cytologic touch preparations of Case 3 revealed three hybridization signals for chromosome 8 (red) and two hybridization signals for chromosome 12 (green). B: FISH analysis performed on cytologic touch preparations of Case 3 revealed three hybridization signals for chromosome 19. C: FISH analysis performed on cytologic touch preparations of Case 4 revealed five to eight hybridization signals for chromosome 8 (red) and four hybridization signals for chromosome 12 (green).