title: Two novel translocations, t(2;4)(q35;q31) and t(X;12)(q22;q24), as the only karyotypic abnormalities in a malignant peripheral nerve sheath tumor of the skull base.
abstract: Malignant peripheral nerve sheath tumor (MPNST) is a rare neoplasm that originates from Schwann cells and comprises 5%-10% of soft tissue sarcomas. Cytogenetic analysis of this tumor has shown a highly complex karyotype, and no single chromosomal aberration has been reported to date. We combined spectral karyotyping analysis and G-banding for cytogenetic characterization of this unique tumor, which originated in the anterior skull base. We report the simultaneous occurrence of a t(2;4)(q35;q31) and a t(X;12)(q22;q24) as the only chromosomal abnormalities in this tumor. To the best of our knowledge, apparently balanced translocations have not been identified previously in MPNST.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Ziv
authors.initials: Z
authors.lastname: Gil
authors.forename: Dan M
authors.initials: DM
authors.lastname: Fliss
authors.forename: Nadia
authors.initials: N
authors.lastname: Voskoboimik
authors.forename: Leonor
authors.initials: L
authors.lastname: Trejo-Leider
authors.forename: Avi
authors.initials: A
authors.lastname: Khafif
authors.forename: Yuval
authors.initials: Y
authors.lastname: Yaron
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
mesh_terms: D000328:Adult; D002877:Chromosomes, Human; D006801:Humans; D007621:Karyotyping; D008297:Male; D018317:Nerve Sheath Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic