Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients"
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 400
- 试验地点
- 1
- 主要终点
- Search for secondary cause of hyperparathyroidism (1): vit D deficiency
研究概览
简要总结
The study aims to update current knowledge about the epidemiology of pituitary tumours (PiT), based on the wide body of scientific literature on new familial and/or syndromic forms. Although inherited predisposition is increasingly recognized, its clinical relevance in unselected series of PiT patients has not been specifically addressed. In addition, it is likely that further recognition of peculiar associations between PiT and other endocrine and/or non-endocrine neoplasia will further increase the spectrum of syndromic forms. Since the identification of inherited forms of PiT may have significant clinical implications in terms of patients management and familial screening, we aim to collect any relevant information in order to estimate their prevalence in a large unselected series of PiT patients and provide new clues for a modern clinical approach to these patients.
详细描述
Recent epidemiological studies indicate that clinically relevant PiT have a prevalence around 1%. The Neuromed Scientific Institute for Research and Cure (IRCCS) is a third referral center for the diagnosis and treatment of patients with hypothalamic-pituitary disorders, and PiT represent the most frequent condition.
The best known syndromic of PiT is Multiple Endocrine Neoplasia type 1 (MEN1), others are rare conditions, such as MEN1-like syndromes, Carney complex, Mc Cune Albright syndrome, the pheochromocytoma/paraganglioma/Pit syndrome. Apparently isolated familial forms of PiT (FIPA) have also been well characterized in the last decade.The genetics of inherited PiT is involving a growing number of genes.At the moment, the most frequently reported gene abnormalities consist of inactivating mutations of the MEN1 and Aryl hydrocarbon receptor Interacting Protein (AIP) genes, which are mainly observed in syndromic and isolated familial forms of PiT, respectively.
On the other hand, patients affected by growth-hormone (GH)-secreting PiT (acromegaly/gigantism) have an increased risk of associated neoplasia, which has been mainly attributed to the growth-promoting effects of GH and/or Insulin-like Growth Factor 1(IGF1). However, a variety of neoplasia have been recently observed in patients with non-functioning PiT, whereas patients affected by prolactinoma - the most common PiT phenotype - have been poorly studied. Associations between PiT and a variety of neoplasia may represent new forms of systemic forms of PiT.
The aim of the study is to evaluate the prevalence of endocrine and non-endocrine neoplasia in a large series of PiTpatients and to identify potential familial and syndromic forms, including new forms of tumor associations, in order to provide new insights in the epidemiology and genetics of PiT and evaluate their clinical relevance in daily practice.
Eligible patients will receive a detailed informative form about the aim, methods and potential implications of the study. They will be included upon written informed consent and be re-assured that they may refuse to participate or withdraw from the study at any time, without any prejudice in their clinical management.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any patient affected by a documented endocrine pituitary tumour (PiT)
- •At least one evaluation during the study period (2014-2018)
排除标准
- •Uncertain diagnosis of endocrine pituitary tumour
- •Any adult patient declining to enter the study
- •For the (few) patients aged less than 18 years, parents or legal tutors declining to include the patient in the study
结局指标
主要结局
Search for secondary cause of hyperparathyroidism (1): vit D deficiency
时间窗: Up to 6 months (where indicated)
measurement of plasma 25(OH)D (ng/ml)
Prevalence of other endocrine and non-endocrine neoplasia (1)
时间窗: Up to 6 months
Report of any neoplasia before the diagnosis of PiT
Prevalence of hyperparathyroidism (HPT)
时间窗: Up to 6 months
measurement of plasma Parathormone (PTH) in % of upper limit of normal values (ULN)
Search for secondary cause of hyperparathyroidism (2): renal failure
时间窗: Up to 6 months
measurement of plasma creatinine (mg/dl)
Familial setting (1)
时间窗: Up to 6 months
Report of any available information concerning familiarity for PiT
Prevalence of hypercalcemia (hypercalcemic hyperparathyroidism)
时间窗: Up to 6 months
measurement of calcemia (mg/dl)
Prevalence of thyroid nodules
时间窗: Up to 6 months
Thyroid ultrasound
Familial setting (2)
时间窗: up to 6 months
Familiarity for any associated neoplasia
Prevalence of other endocrine and non-endocrine neoplasia (2)
时间窗: Up to 6 months
Report of any neoplasia diagnosed during the follow-up of PiT
次要结局
- Genetics (4) any other clinical suspicion of inherited neoplasia syndrome(up to 15 months)
- Genetics (3) any other clinical suspicion for MEN1(up to 15 months)
- Genetics (1) familial forms of PiT(up to 15 months)
- Genetics (2) familial PiT and/or association with HPT(up to 15 months)
研究者
Marie-Lise Jaffrain-Rea, MD
Associate Professor of Endocrinology
Neuromed IRCCS