Cytogenetic analysis of soft tissue sarcomas

摘要: Abstract Malignant peripheral nerve sheath tumors (MPNST) are known to develop in patients with neurofibromatosis 1 (NF1), thus providing an excellent model for the study of multistep carcinogenesis genetically predisposed individuals. To determine sites gene(s) involved such a process, we have performed cytogenetic analysis on 10 tumors. The were five males and females ranging age from 15 77 years. Nine had NF1. Karyotypic these exhibited complex clonal abnormalities several chromosomes. Recurrent (numerical as well structural) chromosomes 1, 11, 12, 14, 17, 22 occurred substantial proportion studied. Although been seen variety other tumors, aberrations 17 particular interest; carry genes NF1 NF2, respectively. In addition aberrations, six both 22, while three only abnormality chromosome 17. eight structural included deletion or relative deficiency 17p; four there was also either rearrangement locus at level. One tumor monosomy 22q11.2→qter. This suggests that germline mutation one copies accompanied by loss inactivation second copy gene suppressor 17p 22q may be associated neoplastic transformation; related progression MPNST. role p53 is documented types, NF2 unidentified 22q, 1p, 14 remains seen.