ArticleClinics (Sao Paulo, Brazil)2010
Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis.
Article in Clinics (Sao Paulo, Brazil), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1.Clinics (Sao Paulo, Brazil) · 2012Pooled it
- Functional analysis of AIP variants in a cohort of neuroendocrine neoplasms.Endocrine-related cancer · 2026Article
- Large Scale Molecular Studies of Pituitary Neuroendocrine Tumors: Novel Markers, Mechanisms and Translational Perspectives.Cancers · 2021Review
- Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child.The Journal of clinical endocrinology and metabolism · 2019Article
- Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in anInternational journal of endocrinology · 2018Article
- SNPs in the aryl hydrocarbon receptor-interacting protein gene associated with sporadic non-functioning pituitary adenoma.Experimental and therapeutic medicine · 2016Article
- MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics.Neuroendocrinology · 2016Review
- Genetics and epigenetics of adrenocortical tumors.Molecular and cellular endocrinology · 2014Review
- A clinically novel AIP mutation in a patient with a very large, apparently sporadic somatotrope adenoma.Endocrinology, diabetes & metabolism case reports · 2014Article
- A differential diagnosis of inherited endocrine tumors and their tumor counterparts.Clinics (Sao Paulo, Brazil) · 2013Review
- Should aip gene screening be recommended in family members of FIPA patients with R16H variant?Pituitary · 2013Article
- Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.Endocrine reviews · 2013Review
- Molecular and genetic aspects of oncology and infectology in Clinics.Clinics (Sao Paulo, Brazil) · 2012Article
- Article
- Familial isolated pituitary adenomas: an emerging clinical entity.Journal of endocrinological investigation · 2012Review
- Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient little mice.Clinics (Sao Paulo, Brazil) · 2012Article
- Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil.Clinics (Sao Paulo, Brazil) · 2012Review
- Adrenal lesions in acromegaly: do metabolic aspects and aryl hydrocarbon receptor interacting protein gene have a role? Evaluation at baseline and after long-term follow-up.Journal of endocrinological investigation · 2011Article
- Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus.Clinics (Sao Paulo, Brazil) · 2011Article
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10 authors.
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Abstract
objectiveNon-pituitary tumors have been reported in a subset of patients harboring germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far. PATIENTS: We examined a MEN1- and p53-negative mother-daughter pair with acromegaly due to somatotropinoma. Subsequently, the mother developed a large virilizing adrenocortical carcinoma and a grade II B-cell non-Hodgkin's lymphoma.
designMutational analysis was performed by automated sequencing. Loss-of-heterozygosity (LOH) analysis was carried out by sequencing and microsatellite analysis. AIP expression was assessed through quantitative PCR (qPCR) and immunohistochemistry.
resultsThe functional inactivating mutation c.241C>T (R81X), which blocks the AIP protein from interacting with phosphodiesterase 4A (PDE4A), was identified in the heterozygous state in the leukocyte DNA of both patients. Analyzing the tumoral DNA revealed that the AIP wild-type allele was lost in the daughter's somatotropinoma and the mother's adrenocortical carcinoma. Both tumors displayed low AIP protein expression levels. Low AIP gene expression was confirmed by qPCR in the adrenocortical carcinoma. No evidence of LOH was observed in the DNA sample from the mother's B-cell lymphoma, and this tumor displayed normal AIP immunostaining.
conclusionsOur study presents the first molecular analysis of non-pituitary tumors in AIP-mutated patients. The finding of AIP inactivation in the adrenocortical tumor suggests that further investigation of the potential role of this recently identified tumor suppressor gene in non-pituitary tumors, mainly in those tumors in which the cAMP and the 11q13 locus are implicated, is likely to be worthwhile.
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