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  • Title: Activating Gs alpha mutation at the Arg201 codon in liposclerosing myxofibrous tumor.
    Author: Matsuba A, Ogose A, Tokunaga K, Kawashima H, Hotta T, Urakawa S, Umezu H, Higuchi T, Endo N.
    Journal: Hum Pathol; 2003 Nov; 34(11):1204-9. PubMed ID: 14652823.
    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.
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