A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.
Histopathology
; 50(6): 691-704, 2007 May.
Article
en En
| MEDLINE
| ID: mdl-17493233
AIMS: To report on the mutation-specific restriction enzyme digest (MSRED) method using paraffin-embedded tissue as a means of detecting GNAS1 mutations in fibrous dysplasia (FD), and to determine if any of the reported GNAS1 mutations in endocrine neoplasms, not previously documented in FD, can be found in FD. METHODS AND RESULTS: Sixty-seven cases of extragnathic FD were analysed as two groups, 1997-2002 and 2003-06, chosen because tissue fixation and decalcification methods were more accurately recorded in the latter. MSRED revealed that between 2003 and 2006, 93% of 28 'in house' extragnathic cases harboured a GNAS1 mutation, compared with 75% of 32 cases before 2003. Fixation times of no more than 48 h and decalcification in ethylenediamine tetraacetic acid gave the best results. Of the 56 mutations detected (five gnathic, 51 extragnathic), 32 (57%) were R201H, 21 (38%) were R201C and three (5%) were Q227L. Two Q227L extragnathic cases had unusual clinical/radiological findings. No mutations were detected in osteofibrous dysplasia. CONCLUSION: Detection of GNAS1 mutations by MSRED is a valuable adjunct to the histopathological diagnosis of FD. This is the first report of a Q227L mutation in FD, although it has been previously documented in pituitary adenoma.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Codón
/
Pruebas Genéticas
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Subunidades alfa de la Proteína de Unión al GTP Gs
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Displasia Fibrosa Ósea
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Límite:
Adolescent
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Adult
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Aged
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Aged80
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Histopathology
Año:
2007
Tipo del documento:
Article
Pais de publicación:
Reino Unido