Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

Objective  Pituitary adenomas occur rarely in childhood and adolescence. Pituitary adenoma predisposition (PAP) has been recently associated with germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. The aim of the study was to examine the proportion of germline AIP mutations in apparently sporadic paediatric pituitary adenomas.

[1]  John P. Bilezikian,et al.  CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2 , 2001 .

[2]  T. Ørntoft,et al.  No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. , 2007, Endocrine-related cancer.

[3]  Jan Lubinski,et al.  Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations , 2007, Proceedings of the National Academy of Sciences.

[4]  J. Burdman,et al.  Pituitary tumors in adolescent patients. , 1998, Neurological research.

[5]  B. Ponder,et al.  Guidelines for diagnosis and therapy of MEN type 1 and type 2. , 2001, The Journal of clinical endocrinology and metabolism.

[6]  L. Aaltonen.  Pituitary adenoma predisposition caused by AIP germline mutations , 2010 .

[7]  I. Lubensky,et al.  Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. , 2000, The Journal of clinical endocrinology and metabolism.

[8]  P. Dahia,et al.  Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. , 2007, The Journal of clinical endocrinology and metabolism.

[9]  M. Mori,et al.  AIP is a mitochondrial import mediator that binds to both import receptor Tom20 and preproteins , 2003, The Journal of cell biology.

[10]  A. Beckers,et al.  The clinical, pathological, and genetic features of familial isolated pituitary adenomas. , 2007, European journal of endocrinology.

[11]  F. Trimarchi,et al.  Clinical presentation and outcome of pituitary adenomas in teenagers , 2003, Clinical endocrinology.

[12]  V. Bours,et al.  Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene. , 2007, European journal of endocrinology.

[13]  S. Asa,et al.  AIP Mutations are not Identified in Patients with Sporadic Pituitary Adenomas , 2007, Endocrine pathology.

[14]  B. Scheithauer,et al.  Pituitary adenomas in childhood and adolescence. Results of transsphenoidal surgery. , 1994, Journal of neurosurgery.

[15]  T. Sano,et al.  The aryl hydrocarbon receptor‐interacting protein gene is rarely mutated in sporadic GH‐secreting adenomas , 2007, Clinical endocrinology.

[16]  R. Tanaka,et al.  Pediatric pituitary adenoma. , 2000, Endocrine journal.

[17]  L. Raffel,et al.  Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas. , 2006, The Journal of clinical endocrinology and metabolism.

[18]  P. Chanson,et al.  Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. , 2007, European journal of endocrinology.

[19]  V. Bours,et al.  Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. , 2007, The Journal of clinical endocrinology and metabolism.

[20]  B. Estour,et al.  Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. , 2007, The Journal of clinical endocrinology and metabolism.

[21]  C. Bradfield,et al.  Ligand-dependent Interaction of the Aryl Hydrocarbon Receptor with a Novel Immunophilin Homolog in Vivo* , 1997, The Journal of Biological Chemistry.

[22]  C. Wilson,et al.  Pediatric pituitary adenomas. , 1995, Neurosurgery.

[23]  J. Vangilder,et al.  Pediatric pituitary tumors. , 1991, Neurosurgery.

[24]  B. Scheithauer,et al.  Pituitary adenomas in childhood and adolescence. , 1994, Progress in experimental tumor research.

[25]  R. Paschke,et al.  Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene , 2006, Science.

[26]  C. Stratakis,et al.  Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. , 2001, The Journal of clinical endocrinology and metabolism.

[27]  O. Delalande,et al.  Transsphenoidal surgery for pituitary adenomas in children. , 1994, Neurosurgery.

[28]  J. V. Vanden Heuvel,et al.  Evidence That Peroxisome Proliferator-activated Receptor α Is Complexed with the 90-kDa Heat Shock Protein and the Hepatitis Virus B X-associated Protein 2* , 2003, The Journal of Biological Chemistry.

[29]  E. Spada,et al.  Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr) , 2006, Journal of endocrinological investigation.

[30]  G. Baillie,et al.  Attenuation of the Activity of the cAMP-specific Phosphodiesterase PDE4A5 by Interaction with the Immunophilin XAP2* , 2003, Journal of Biological Chemistry.

[31]  C. Wilson,et al.  Pituitary adenomas in childhood and adolescence. , 1978, Journal of pediatric endocrinology & metabolism : JPEM.

[32]  D. Altieri,et al.  Regulation of Survivin Stability by the Aryl Hydrocarbon Receptor-interacting Protein* , 2006, Journal of Biological Chemistry.

[33]  L. Sachs,et al.  The co‐chaperone XAP2 is required for activation of hypothalamic thyrotropin‐releasing hormone transcription in vivo , 2006, EMBO reports.

[34]  H. Gharib,et al.  Results of treatment of pituitary disease in multiple endocrine neoplasia, type I. , 1996, Neurosurgery.

[35]  E. Menis,et al.  Pituitary adenomas in childhood and adolescence. Clinical analysis of 10 cases , 2001, Journal of endocrinological investigation.

[36]  R. Prayson,et al.  Pediatric pituitary adenomas. , 2008, Archives of pathology & laboratory medicine.

[37]  F. Casanueva,et al.  Criteria for cure of acromegaly: a consensus statement. , 2000, The Journal of clinical endocrinology and metabolism.