Clinical Trial: Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA
Brief Summary:
The research is aimed at identifying new predisposition genes for endocrine tumours. Our focus initially is on pituitary adenomas including growth hormone-secreting tumors (somatotrophinomas) and prolactin secreting tumours (prolactinomas), but we wish to extend work to other pituitary tumour cases/families.
The recruitment process will be as follows.
- We will recruit patients from our own Endocrine outpatient clinics and inpatient wards. In addition we will ask colleagues in other Endocrinology Departments (or other specialties such as Clinical Genetics,Pathology, General Medicine ) to identify potentially suitable patients with endocrine & pituitary tumours from their records. We shall focus on patients with good evidence of inheritance of their condition: relatively early onset; or multiple lesions; or other affected family members. Conditions where the predisposing genes have been identified (principally MEN) will be excluded from study. Patients directly contacting us can also enter the study.
- The Consultant looking after the patient will contact the patient to initially inform him/her of the study.
- We will then contact the patient (generally by telephone) to discuss the study and what it would entail in terms of information and samples.
- Subject to agreement in (3), patient will receive 'Information Sheet for patients with pituitary tumour' and 'Consent Form' and will have blood sampling in Consultant's clinic.
- We will contact additional family members (if appropriate) after an initial approach by the family member already recruited to the study. The additional family members may have developed tumours similar to those of the proband, or may be u
Detailed Summary:
We wish to find genes which predispose to pituitary tumours, to find out how those genes work and to assess those genes (and similar genes) in other conditions related to the pituitary tumours.
We will study the recently identified new familial pituitary adenoma gene AIP (AhR interacting protein) and its partner molecules for example AhR (aryl hydrocarbon receptor) in familial and sporadic pituitary adenoma cases.
We have 3 main questions:
Is the identified gene (e.g. AIP) involved in the pathogenesis of familial pituitary tumours (acromegaly), are there any mutations in this gene in these families? What is the function of the new gene in pituitary tumorigenesis? Does the new gene or its partners have a role in sporadic pituitary adenoma tumorigenesis?
Pituitary tumours comprise around 15% of all intracranial neoplasms, and present with distinct clinical characteristics, usually in terms of local space-occupying effects, or secondary to tumoral hypersecretion or its consequences. Acromegaly and gigantism are due in more than 99% of cases to a somatotroph adenoma, which has been demonstrated to be monoclonal in the great majority of instances1. It has been suggested that there are 6 major features of oncogenesis which all need to be present in cases of cancer2, but only 3 of these (activation of an oncogene, inactivation of a tumour suppressor gene [TSG], inhibition of apoptosis) appear to be relevant to pituitary tumorigenesis; these tumours are usually benign adenomas, and the formation of new blood vessels and the capacity for metastasis are uncommon, although some way of evading senescence may be important. It has therefore been suggested that a very small number of mutations in oncogenes and/or TSG's may be causally resp
Sponsor: Barts & The London NHS Trust
Current Primary Outcome:
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Barts & The London NHS Trust
Dates:
Date Received: April 16, 2007
Date Started: March 2007
Date Completion: April 2099
Last Updated: July 15, 2015
Last Verified: July 2015
