Cytogenetic analysis of a primary bone angiosarcoma.

Primary bone angiosarcomas are rare and aggressive vascular malignancies with a high mortality rate. To our knowledge, there are no reported cytogenetic abnormalities in primary bone angiosarcomas, although several have been reported in soft tissue angiosarcomas. We report a case of primary bone angiosarcoma, arising in the tibia of a 79-year-old woman, with a unique clonal chromosomal rearrangement: t(1;14)(p21;q24), that has not been reported in either soft tissue or primary bone angiosarcoma.

Chondromyxoid fibroma of the nasal cavity with an interstitial insertion between chromosomes 6 and 19.

Chondromyxoid fibroma is an uncommon benign cartilaginous tumor that rarely presents in the sino-nasal region as a locally destructive, erosive lesion. Both clinically and histologically, it is a difficult diagnosis and can be confused with malignant processes such as myxoid chondrosarcoma. Histology of the tumor, especially with a small sample, can be challenging because of its heterogeneous nature showing an admixture of fibrous, myxoid, and chondroid areas.

Myxoinflammatory fibroblastic sarcoma with complex supernumerary ring chromosomes composed of chromosome 3 segments.

Myxoinflammatory fibroblastic sarcoma is a rare, recently described, and distinctive low-grade tumor of soft tissue. To our knowledge, there is only one previous report on the cytogenetics of this tumor. That case showed complex structural abnormalities, including a reciprocal translocation between chromosomes 1 and 10 [t(1;10)(p22;q24)] with loss of chromosomes 3 and 13.

SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development.

Studies examining altered imprinted gene expression in cancer compare the observed expression pattern to the normal expression pattern for a given tissue of origin, usually the somatic expression pattern for the imprinted gene. Germ cell tumors (GCTs), however, require a developmental stage-dependent comparison. To explore using methylation as an indicator of germ cell development, we determined the pattern of methylation at the 5' untranslated region of SNRPN in 89 GCTs from both children and adults.

Chromosomes 1 and 12 abnormalities in pediatric germ cell tumors by interphase fluorescence in situ hybridization.

Chromosome studies of pediatric germ cell tumors (GCTs) show differences in abnormalities dependent on age, sex, tumor location, and histology. Previous studies suggest that loss of 1p is associated with a malignant phenotype, while amplification of 12p, a common finding in adult testicular GCTs, is uncommon in pediatric GCTs. Fifty-three pediatric GCTs were analyzed for 1p36 loss and 12p amplification by G-banding and dual-color interphase FISH with probes for the centromere and short arm of chromosomes 1 or 12.