title: Biological and clinical significance of cytogenetic abnormalities in low-risk and high-risk gastrointestinal stromal tumors.
abstract: We report cytogenetic findings in 19 c-Kit-positive gastrointestinal stromal tumors (GISTs) that represent a heterogenous group of mesenchymal neoplasms with respect to site, histology, and biologic behavior. All of the GISTs (5 low-risk, 11 high-risk, 3 recurrences) displayed clonal chromosomal aberrations; 15 were hypo- to near-diploid, and 4 were near-triploid and hypotetraploid. The most common abnormalities were loss of chromosomes 14 and/or 22, demonstrated in 14 GISTs irrespective of site or predominant phenotype. Ten cases (2 low-risk, 5 high-risk, 3 recurrences) were characterized by loss of both chromosomes 14 and 22, 2 cases (1 low-risk, 1 high- risk), by loss of chromosome 14; and 2 high-risk cases, by loss of chromosome 22. Additional chromosomal aberrations occurred preferentially in high-risk and recurrent GISTs, including loss of 9p and 1p in 8 cases each, loss of 15 in 6 cases, loss of 3p in 5 cases, loss of 13q and 10q in 4 cases each, loss of 19 in 3 cases, and complete or partial gains of chromosomes 5 and 4 in 2 cases each. More significantly, 5 of 6 patients with clinically aggressive GISTs, including 2 recurrences and 3 metastasing GISTs, were additionally characterized by loss of 9p; four of these had additional loss of chromosomes 1p and 15. The presented results herein indicate that loss of chromosome 14 and/or 22 is an early change in GIST tumorigenesis irrespective of site or differentiation, whereas malignant transformation and progression of GISTs appear to be associated with an increasing incidence of additional secondary aberrations.
authors.affiliation: Institute of Pathology, Georg-August-University Göttingen, Germany.
authors.forename: Bastian
authors.initials: B
authors.lastname: Gunawan
authors.forename: Frank
authors.initials: F
authors.lastname: Bergmann
authors.forename: Jörg
authors.initials: J
authors.lastname: Höer
authors.forename: Claus
authors.initials: C
authors.lastname: Langer
authors.forename: Volker
authors.initials: V
authors.lastname: Schumpelick
authors.forename: Heinz
authors.initials: H
authors.lastname: Becker
authors.forename: László
authors.initials: L
authors.lastname: Füzesi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000032:analysis; D002869:Chromosome Aberrations; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007621:Karyotyping; D007890:Leiomyosarcoma / Q000737:chemistry / Q000235:genetics* / Q000556:secondary; D008297:Male; D008875:Middle Aged; D011123:Polyploidy; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis; D017154:Stromal Cells / Q000737:chemistry / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor; D019009:Proto-Oncogene Proteins c-kit