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Mutations in theAryl Hydrocarbon Receptor Interacting ProteinGene Are Not Highly Prevalent among Subjects with Sporadic Pituitary Adenomas
- Source :
- Journal of Clinical Endocrinology and Metabolism, Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2007, 92 (5), pp.1952-1955. ⟨10.1210/jc.2006-2702⟩, Journal Clinical Endocrinol, Journal Clinical Endocrinol, 2007, sous presse, Journal of Clinical Endocrinology and Metabolism, 2007, 92 (5), pp.1952-1955. ⟨10.1210/jc.2006-2702⟩
- Publication Year :
- 2007
- Publisher :
- The Endocrine Society, 2007.
-
Abstract
- Context: Limited screening suggests that three germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are not involved in sporadic pituitary tumorigenesis. Multiple novel mutations of this gene have since been identified in familial isolated pituitary adenoma cohorts. Objective: The objective of the study was to undertake full AIP coding sequence screening to assess for the presence of germline and somatic mutations in European Union subjects with sporadic pituitary tumors. Design: The study design was the analysis of DNA from peripheral blood lymphocytes and analysis of exons 1–6 and paraexonic intron sequences of AIP. Multiplex ligation-dependent probe amplification was used to screen separate sporadic pituitary tumor tissue samples for discrete and extensive deletions or mutations of the AIP gene. Setting: The study was conducted in university tertiary referral Clinical Genetics, Molecular Biology, and Endocrinology Departments. Results: In 107 patients [prolactinomas (n =49), nonfunctioning tumors (n = 29), somatotropinomas (n = 26), ACTH-secreting tumors (n = 2), TSH-secreting tumors (n = 1)], no germline mutations of AIP were demonstrated. Among a group of 41 tumor samples from other subjects, a novel AIP mutation (R22X) was found in one sample in which the corresponding allele was deleted; follow-up screening of the patient demonstrated a germline R22X AIP mutation. Conclusions: AIP mutations do not appear to play a prominent role in sporadic pituitary tumorigenesis in this population of European subjects.
- Subjects :
- medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology
Clinical Biochemistry
Population
030209 endocrinology & metabolism
Pituitary neoplasm
Biology
medicine.disease_cause
Biochemistry
Germline
03 medical and health sciences
0302 clinical medicine
Endocrinology
Germline mutation
Internal medicine
medicine
media_common.cataloged_instance
European union
education
media_common
Aryl Hydrocarbon Receptor Interacting Protein
Genetics
education.field_of_study
Mutation
Biochemistry (medical)
Pituitary tumors
medicine.disease
3. Good health
030220 oncology & carcinogenesis
Carcinogenesis
Subjects
Details
- ISSN :
- 19457197 and 0021972X
- Volume :
- 92
- Database :
- OpenAIRE
- Journal :
- The Journal of Clinical Endocrinology & Metabolism
- Accession number :
- edsair.doi.dedup.....0402394e66efe9e278dd4dc1e689efcd