Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotype

Research output: Contribution to journalArticle

Abstract

Conventional lipomas harbor karyotypic changes that could be subdivided into four, usually mutually exclusive, categories: rearrangement, in particular through translocations, of chromosome bands 12q13-15, resulting in deregulation of the HMGA2 gene, loss of material from or rearrangement of chromosome 13, supernumerary ring or giant marker chromosomes, and aberrations of chromosome band 6p21. In the present study, 272 conventional lipomas, two-thirds of them deep-seated, with acquired clonal chromosome changes were assessed with regard to karyotypic and clinical features. A nonrandom distribution of breakpoints and imbalances could be confirmed, with 83% of the cases harboring one or more of the previously known cytogenetic hallmarks. Correlation with clinical features revealed that lipomas with rings/giant markers were larger, occurred in older patients, were more often deep-seated, and seemed to have an increased tendency to recur locally, compared with tumors with other chromosome aberrations. The possible involvement of the HMGA2 gene in cases that did not show any of the characteristic cytogenetic changes was further evaluated by locus-specific metaphase fluorescence in situ hybridization (FISH) and RT-PCR, revealing infrequent cryptic disruption of the gene but abundant expression of full length or truncated transcripts. By FISH, we could also show that breakpoints in bands 10q22-23 do not affect the MYST4 gene, whereas breakpoints in 6p21 or 8q11-12 occasionally target the HMGA1 or PLAG1 genes, respectively, also in conventional lipomas.

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Authors
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
  • Cancer and Oncology

Keywords

  • Adolescent, Adult, Child, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 13, Cohort Studies, Female, HMGA2 Protein, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Karyotyping, Lipoma, Male, Middle Aged, Neoplasms, Reverse Transcriptase Polymerase Chain Reaction, Soft Tissue Neoplasms, Journal Article, Research Support, Non-U.S. Gov't
Original languageEnglish
Pages (from-to)594-606
Number of pages13
JournalGenes, Chromosomes and Cancer
Volume46
Issue number6
Publication statusPublished - 2007 Jun
Publication categoryResearch
Peer-reviewedYes

Bibliographic 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), Department of Orthopaedics (Lund) (013028000)

Related research output

Bartuma, H., 2011, Department of Clinical Genetics, Lund University. 166 p.

Research output: ThesisDoctoral Thesis (compilation)

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