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

Abstract Guanine nucleotide-binding protein/α-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...

Full description

Bibliographic Details
Main Authors: Su-Jin Shin, Seok Joo Lee, Sang Kyum Kim
Format: Article
Language:English
Published: Nature Portfolio 2017-06-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-03093-1
_version_ 1818343765776007168
author Su-Jin Shin
Seok Joo Lee
Sang Kyum Kim
author_facet Su-Jin Shin
Seok Joo Lee
Sang Kyum Kim
author_sort Su-Jin Shin
collection DOAJ
description Abstract Guanine nucleotide-binding protein/α-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.
first_indexed 2024-12-13T16:35:47Z
format Article
id doaj.art-65adb07308a444989cd4f6225074e9eb
institution Directory Open Access Journal
issn 2045-2322
language English
last_indexed 2024-12-13T16:35:47Z
publishDate 2017-06-01
publisher Nature Portfolio
record_format Article
series Scientific Reports
spelling doaj.art-65adb07308a444989cd4f6225074e9eb2022-12-21T23:38:24ZengNature PortfolioScientific Reports2045-23222017-06-01711710.1038/s41598-017-03093-1Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcificationSu-Jin Shin0Seok Joo Lee1Sang Kyum Kim2Department of Pathology, Hanyang University College of MedicineDepartment of Pathology, Yonsei University College of MedicineDepartment of Pathology, Yonsei University College of MedicineAbstract Guanine nucleotide-binding protein/α-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.https://doi.org/10.1038/s41598-017-03093-1
spellingShingle Su-Jin Shin
Seok Joo Lee
Sang Kyum Kim
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
Scientific Reports
title Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
title_full Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
title_fullStr Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
title_full_unstemmed Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
title_short Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification
title_sort frequency of gnas r201h substitution mutation in polyostotic fibrous dysplasia pyrosequencing analysis in tissue samples with or without decalcification
url https://doi.org/10.1038/s41598-017-03093-1
work_keys_str_mv AT sujinshin frequencyofgnasr201hsubstitutionmutationinpolyostoticfibrousdysplasiapyrosequencinganalysisintissuesampleswithorwithoutdecalcification
AT seokjoolee frequencyofgnasr201hsubstitutionmutationinpolyostoticfibrousdysplasiapyrosequencinganalysisintissuesampleswithorwithoutdecalcification
AT sangkyumkim frequencyofgnasr201hsubstitutionmutationinpolyostoticfibrousdysplasiapyrosequencinganalysisintissuesampleswithorwithoutdecalcification