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JMD 2000, Vol. 2, No. 2
Copyright © 2000 American Society for Investigative Pathology & Association for Molecular Pathology

A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GS{alpha} Mutation at the Arg201 Codon

Polymerase Chain Reaction-Restriction Fragment Length Polymorphism Analysis of Paraffin-Embedded Tissues

Akio Sakamoto*, Yoshinao Oda*, Yukihide Iwamoto{dagger} and Masazumi Tsuneyoshi*

From the Department of Anatomic Pathology, * Pathological Sciences, and the Department of Orthopaedic Surgery, {dagger} Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen during childhood or adolescence. Histologically, the features of these bone lesions sometimes look quite similar, but their precise nature remains controversial. Mutation of the {alpha} subunit of signal-transducing G proteins (GS{alpha}), with an increase in cyclic adenosine monophosphate (cAMP) formation, has been implicated in the development of multiple endocrinopathies of the Albright-McCune syndrome and in the development of fibrous dysplasia. We studied GS{alpha} mutation at the Arg201 codon in seven cases of fibrous dysplasia (six monostotic lesions and one polyostotic lesion) and seven cases of osteofibrous dysplasia using formalin-fixed, paraffin-embedded tissue, by means of polymerase chain reaction-restriction fragment length polymorphism and direct sequencing analysis. All of the seven cases of fibrous dysplasia showed missense point mutations in GS{alpha} at the Arg201 codon that resulted in Arg-to-His substitution in three cases and Arg-to-Cys substitution in four cases. On the other hand, the seven cases of osteofibrous dysplasia and the normal bone used as a control showed no such mutation. These data suggest that fibrous dysplasia and osteofibrous dysplasia have different pathogeneses and that the detection of GS{alpha} mutation at the Arg201 codon is quite useful for distinguishing between these lesions.




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