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Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification

Title
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
Author
신수진
Keywords
MCCUNE-ALBRIGHT-SYNDROME; ACTIVATING G(S)ALPHA MUTATION; STIMULATORY G-PROTEIN; GS-ALPHA MUTATION; OSSIFYING FIBROMA; MOLECULAR-BASIS; BONE; GENE; SUBUNIT; DEFECTS
Issue Date
2017-06
Publisher
NATURE PUBLISHING GROUP
Citation
SCIENTIFIC REPORTS, v. 7, Article no. 2836
Abstract
Guanine nucleotide-binding protein/alpha-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed GNAS mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification. GNAS mutation was identified in 28 cases out of 87 FDs (32.18%) [p.R201C (N = 14) and p. R201H (N = 14)]. GNAS mutation was more likely to occur in polyostotic FD (7/28, 25.0%); FD without GNAS mutation was mostly monostotic form (56/59, 94.9%, P = 0.011). The G > A (R201H) mutation was more frequent in polyostotic FD (6/14 patients, 42.9%) than the C > T (R201C) mutation (1/14, 7.1%) (P = 0.077). We divided the FD cases into two subgroups: tissue specimens that were not decalcified (N = 35, 40.2%), and tissue specimens that were decalcified (N = 52, 59.8%). GNAS mutation was more frequently identified in FD specimens that were not subjected to decalcification (23/35, 65.7%) than in FD specimens that were decalcified (5/52, 9.6%) (P = 0.001). In conclusion, mutation analysis of GNAS by pyrosequencing has diagnostic value in FFPE tissue of patients with FD, especially in specimens that were not decalcified. The R201H substitution mutation of GNAS may be involved in the pathogenesis of polyostotic FD.
URI
https://www.nature.com/articles/s41598-017-03093-1https://repository.hanyang.ac.kr/handle/20.500.11754/114678
ISSN
2045-2322
DOI
10.1038/s41598-017-03093-1
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia Pyrosequencing analysis in tissue samples with or without decalcific...Download
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