Activating Gs alpha mutation at the Arg201 codon in liposclerosing myxofibrous tumor.
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.
Matsuba
Atsushi
A
Division of Orthopedic Surgery, Department of Regenerative and Transplant Medicine, Niigata University Graduate School of Medical and Dental Sciences, Japan.
Ogose
Akira
A
Tokunaga
Kunihiko
K
Kawashima
Hiroyuki
H
Hotta
Tetsuo
T
Urakawa
Sayuri
S
Umezu
Hajime
H
Higuchi
Takeshi
T
Endo
Naoto
N
D000368:Aged; D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005350:Fibroma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005357:Fibrous Dysplasia of Bone / Q000235:genetics; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D006801:Humans; D008067:Lipoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009232:Myxoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011859:Radiography
D003062:Codon; D044385:GTP-Binding Protein alpha Subunits