title: Chromosomal aberrations and microsatellite instability of malignant peripheral nerve sheath tumors: a study of 10 tumors from nine patients.
abstract: Malignant peripheral nerve sheath tumor (MPNST) is an uncommon soft tissue neoplasm with a poor prognosis, occurring sporadically or associated with neurofibromatosis type 1 (NF1); however, the histogenesis of MPNST remains unclear, especially in sporadic tumors. There are two major forms of genomic instability in human cancer: chromosomal instability (CIN) and microsatellite instability (MSI). An inverse relationship has recently been demonstrated between CIN and MSI in colorectal cancers. CIN and MSI are suggested to be individual pathways, which are involved in the pathogenesis and which may lead to specific clinical and pathological characteristics. To elucidate the chromosomal aberration as a consequence of CIN and MSI status of MPNST, we karyotyped 10 MPNSTs from nine patients, and examined the MSI of seven microsatellite markers using high-resolution fluorescence microsatellite analysis; 2 out of 10 cases (20%) had normal karyotypes, and 8 out of 10 cases (80%) revealed structural and numerical chromosomal aberrations. Three of the 10 cases (30%) showed near triploidy. The most frequent aberration was -22 (40%), followed by +2, +14, -13, -17, and -18 (30% each). An MSI-low status was observed in 30% of cases; the remaining cases showed microsatellite stability. These findings suggest that chromosomal aberration as a consequence of CIN has a greater role in the pathogenesis of MPNST than does that due to MSI.
authors.affiliation: Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
authors.forename: Chikashi
authors.initials: C
authors.lastname: Kobayashi
authors.forename: Yoshinao
authors.initials: Y
authors.lastname: Oda
authors.forename: Tomonari
authors.initials: T
authors.lastname: Takahira
authors.forename: Teiyu
authors.initials: T
authors.lastname: Izumi
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kawaguchi
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Yamamoto
authors.forename: Sadafumi
authors.initials: S
authors.lastname: Tamiya
authors.forename: Tomomi
authors.initials: T
authors.lastname: Yamada
authors.forename: Shinya
authors.initials: S
authors.lastname: Oda
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Tanaka
authors.forename: Shuichi
authors.initials: S
authors.lastname: Matsuda
authors.forename: Yukihide
authors.initials: Y
authors.lastname: Iwamoto
authors.forename: Masazumi
authors.initials: M
authors.lastname: Tsuneyoshi
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007621:Karyotyping; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D018317:Nerve Sheath Neoplasms / Q000235:genetics*