[Fibrous dysplasia: molecular clonality analysis of 21 cases].
OBJECTIVE
To investigate the neoplastic nature of fibrous dysplasia by molecular clonality approaches.


METHODS
Twenty-one cases of fibrous dysplasia were examined by clonality assays based on X-chromosomal inactivation mosiacism. Lesional and non-lesional tissues were microdissected from paraffin sections followed by DNA extraction. The DNA was predigested by HpaII or HhaI, and then amplified by nested PCR targeting phosphoglycerate kinase (PGK) and androgen receptor (AR) genes. Single nucleotide polymorphism (SNP) at the PGK locus was identified by incubation of the PCR products with Bst XI and agarose gel electrophoresis, and CAG repeat length polymorphism at AR locus was determined by denaturing polyacrylamide gel electrophoresis and visualized by silver staining.


RESULTS
Microscopically, all 21 cases showed characteristic features of fibrous dysplasia, including spindle fibrous cell proliferation and immature bone trabeculae at various proportions. DNA polymorphisms at AR locus and SNP of PGK gene were found in 15 of 21, and 4 of 21 cases, respectively. All 19 cases were monoclonal in nature. Two cases showed no polymorphism at either AR or PGK gene locus.


CONCLUSIONS
Fibrous dysplasia is likely a clonal, neoplastic process. Additional studies of larger number of cases are needed for a definitive conclusion.
Gong
Li
L
Department of Pathology, Tangdu Hospital, the Fourth Military Medical University, Xi'an 710038, China.
Zhang
Wei
W
Li
Yan-hong
YH
Li
Gang
G
Zhu
Shao-jun
SJ
Tong
Xin
X
Zhang
Yong-qiang
YQ
Li
Hai-tao
HT
Su
Qin
Q
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D010735:Phosphoglycerate Kinase / Q000235:genetics*; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*; D055815:Young Adult
D011944:Receptors, Androgen; D010735:Phosphoglycerate Kinase