Activating Gs alpha mutation at the Arg201 codon in liposclerosing myxofibrous tumor

Hum Pathol. 2003 Nov;34(11):1204-9. doi: 10.1016/s0046-8177(03)00430-1.

Abstract

Liposclerosing myxofibrous tumor (LSMFT) is a benign fibro-osseous lesion that is characterized by mixture of histologic elements including lipoma, fibroxanthoma, myxoma, ischemic ossification, and fibrous dysplasia (FD)-like features. These tissue components are seen in the original reports of FD; however, the relationship between LSMFT and FD is not clear. Point mutation of the alpha subunit of G protein (Gs alpha), which increases cyclic adenosine monophosphate formation, has been recognized as the cause of McCune-Albright syndrome as well as polyostotic and monostotic FD of bone. Gs alpha mutation at the Arg201 codon in 2 patients of LSMFT was demonstrated in the present study. Although direct sequencing analysis using the fresh-frozen materials could not detect the mutation, the polymerase chain reaction fragmentation length polymorphism (PCR-RFLP) disclosed the missense point mutation Gs alpha at the Arg201 codon in 2 cases involving LSMFT. This result strongly suggests that a subset of LSMFT is a variant form of FD.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Bone Neoplasms / diagnostic imaging
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology
  • Codon / genetics
  • DNA Mutational Analysis
  • Fibroma / diagnostic imaging
  • Fibroma / genetics*
  • Fibroma / pathology
  • Fibrous Dysplasia of Bone / genetics
  • GTP-Binding Protein alpha Subunits / genetics*
  • Humans
  • Lipoma / diagnostic imaging
  • Lipoma / genetics*
  • Lipoma / pathology
  • Male
  • Middle Aged
  • Myxoma / diagnostic imaging
  • Myxoma / genetics*
  • Myxoma / pathology
  • Point Mutation
  • Polymerase Chain Reaction
  • Radiography

Substances

  • Codon
  • GTP-Binding Protein alpha Subunits