Cytogenetic Analysis of a Pseudoangiomatous Pleomorphic/Spindle Cell Lipoma

Anticancer Res. 2017 May;37(5):2219-2223. doi: 10.21873/anticanres.11557.

Abstract

Background: Pseudoangiomatous pleomorphic/spindle cell lipoma is a rare subtype of pleomorphic/spindle cell lipoma. Only approximately 20 such tumors have been described. Genetic information on pseudoangiomatous pleomorphic/spindle cell lipoma is restricted to a single case in which deletion of the forkhead box O1 (FOXO1) gene was found, using fluorescence in situ hybridization (FISH).

Materials and methods: G-banding and FISH analyses were performed on a pseudoangiomatous pleomorphic/spindle cell lipoma.

Results: G-banding of tumor cells showed complex karyotypic changes including loss of chromosome 13. FISH analysis revealed that the deleted region contained the RB1 gene (13q14.2) and the part of chromosome arm 13q (q14.2-q14.3) in which spans the TRIM13 gene, the two non-coding RNA genes, DLEU1 and DLEU2, and the genetic markers RH44686 and D13S25.

Conclusion: Several acquired genomic aberrations were found in the tumor. Among them was loss of chromosome 13 material. Results confirm the (cyto)genetic similarity between pseudoangiomatous pleomorphic/spindle cell lipoma and spindle cell lipomas.

Keywords: 13q14; FOXO1; Pseudoangiomatous pleomorphic/spindle cell lipoma; RB1; chromosome 13; cytogenetics; deletion.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers, Tumor
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Cytogenetic Analysis
  • DNA-Binding Proteins / genetics
  • Forkhead Box Protein O1 / genetics
  • Humans
  • Lipoma / genetics*
  • Male
  • RNA, Long Noncoding
  • Retinoblastoma Binding Proteins / genetics
  • Transferases
  • Tumor Suppressor Proteins / genetics
  • Ubiquitin-Protein Ligases / genetics

Substances

  • Biomarkers, Tumor
  • DLEU1 lncRNA, human
  • DLEU2 lncRNA, human
  • DNA-Binding Proteins
  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • RB1 protein, human
  • RNA, Long Noncoding
  • Retinoblastoma Binding Proteins
  • TRIM13 protein, human
  • Tumor Suppressor Proteins
  • Transferases
  • Ubiquitin-Protein Ligases