Extensive cytogenetic heterogeneity in a benign retroperitoneal schwannoma

Ludmila Gorunova, Sigmund Dawiskiba, Åke Andren-Sandberg, Mattias Höglund, Bertil Johansson

Research output: Contribution to journalArticlepeer-review


A benign retroperitoneal schwannoma from a patient without prior exposure to radiotherapy or chemotherapy was analyzed by chromosome banding after short-term culture. An extensive intratumor heterogeneity in the form of 29 karyotypically related as well as unrelated clones was found. The aberrant clones were diploid or near-diploid and displayed both numerical and structural changes. All chromosomes, except 11, 16, and 20, were affected. Numerical changes included trisomies X, 7, 9, 17, and 18, and monosomies 13 and 18. No clonal loss of chromosome 22, the most characteristic abnormality in schwannomas of other locations, was, however, detected. The structural aberrations resulted in a total of 58 chromosomal breakpoints, with chromosomes 18, 1, and 15 participating in rearrangements most frequently, followed by chromosomes 14, 2, and 22. A striking finding was the clonal involvement of 18p11 in eight rearrangements affecting different chromosomes, suggesting alteration of telomeric function. The molecular mechanisms underlying the observed massive polyclonality in the schwannoma, particularly the presence of cytogenetically unrelated clones, are unknown and probably heterogeneous.
Original languageEnglish
Pages (from-to)148-154
JournalCancer Genetics and Cytogenetics
Issue number2
Publication statusPublished - 2001

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Division of Clinical Genetics (013022003), Pathology, (Lund) (013030000)

Subject classification (UKÄ)

  • Medical Genetics


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