Molecular genetic changes in alveolar soft part sarcoma

Alveolar soft part sarcoma (ASPS) is a rare but highly malignant soft tissu e tumor that affects mostly adolescents and young adults. To date, little m olecular genetic information is available on this tumor of uncertain histog enesis. To expand our knowledge of this malignancy, we studied a recent cas e of ASPS by various molecular genetic techniques. Known chromosomal rearra ngements associated with other pediatric solid tumors, including t(1; 13) ( p36; q14), t(2; 13)(p35; q14), t(11; 22)(q24; q12), and t(11; 22)(p13; q12) were not detected by reverse transcriptase polymerase chain reaction (RT-P CR). The MYCN gene was not amplified, but a chromosome IP deletion was evid ent by fluorescence in sih hybridization. By representational dependence an alysis, two amplified DNA sequences were identified. The first sequence sho wed no significant nucleic and identity with known genes and was mapped to chromosomal region 19q12-13.1. The second sequence showed significant nucle ic acid identity to the human beta-tryptase precursor on chromosome 16. The se findings could provide entry points for the identification of genes rele vant in ASPS oncogenesis and progression.