Publications by authors named "Maria A Tichomirowa"

Corticotroph macroadenomas are rare but difficult to manage intracranial neoplasms. Mutations in the two Cushing's disease mutational hotspots USP8 and USP48 are less frequent in corticotroph macroadenomas and invasive tumors. There is evidence that TP53 mutations are not as rare as previously thought in these tumors.

View Article and Find Full Text PDF

Background: Cushing's disease (CD) is caused by adrenocorticotropic hormone (ACTH)-secreting pituitary tumours. They express high levels of heat shock protein 90 and heat shock factor 1 (HSF1) in comparison to the normal tissue counterpart, indicating activated cellular stress.

Aims: Our objectives were: (1) to correlate HSF1 expression with clinical features and hormonal/radiological findings of CD, and (2) to investigate the effects of HSF1 inhibition as a target for CD treatment.

View Article and Find Full Text PDF

Prolactin-secreting tumors (prolactinomas) represent the most common pituitary tumor type, accounting for 47-66% of functional pituitary tumors. Prolactinomas are usually benign and controllable tumors as they express abundant levels of dopamine type 2 receptor (D2), and can be treated with dopaminergic drugs, effectively reducing prolactin levels and tumor volume. However, a proportion of prolactinomas exhibit aggressive features (including invasiveness, relevant growth despite adequate dopamine agonist treatment, and recurrence potential) and few may exhibit metastasizing potential (carcinomas).

View Article and Find Full Text PDF

Acromegaly is a chronic rare disease associated with negative pathological effects on multiple systems and organs. We designed a new informatics tool to study data from patients with acromegaly, the Liege Acromegaly Survey (LAS). This relational database permits the inclusion of anonymous historical and prospective data on patients and includes pathophysiology, clinical features, responses to therapy and long term outcomes of acromegaly.

View Article and Find Full Text PDF

Familial isolated pituitary adenoma (FIPA) occurs in families and is unrelated to multiple endocrine neoplasia type 1 and Carney complex. Mutations in AIP account only for 15-25% of FIPA families. CDKN1B mutations cause MEN4 in which affected patients can suffer from pituitary adenomas.

View Article and Find Full Text PDF

Background: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments.

View Article and Find Full Text PDF

Context: AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and therapeutic features of AIPmut-associated pituitary adenomas have not been studied comprehensively.

Objective: The objective of the study was to assess clinical/therapeutic characteristics of AIPmut pituitary adenomas.

View Article and Find Full Text PDF

Pituitary adenomas are one of the most frequent intracranial tumors. Usually, they are benign but are of great clinical significance because of tumor compression syndrome and hormone overproduction. The interest in this pathology is increasing, particularly after some recent reports on their prevalence that proved to be 3-5 times more than previously estimated.

View Article and Find Full Text PDF

According to data derived from autopsy and radiological imaging series, pituitary tumours occur very commonly in the general population; however, most of these tumours are incidental findings with no obvious clinical impact. The historical data on the prevalence of pituitary adenomas in the clinical setting are scant and point to such tumours being relatively rare. Recent studies have shown that the prevalence of clinically relevant pituitary adenomas is 3-5 times higher than previously reported, which adds impetus to research into the aetiology of these tumours.

View Article and Find Full Text PDF

Clinically relevant pituitary adenomas occur 3-5 times more frequently than previously thought. The majority are isolated cases, but their presentation can be familial in the setting of known syndromes such as multiple endocrine neoplasia (MEN)-1 and Carney complex. When 2 or more cases of pituitary adenomas occur in the same family in the absence of the above-mentioned syndromes, a diagnosis of FIPA (familial isolated pituitary adenomas) is made, which accounts for 1-2% of all pituitary adenomas.

View Article and Find Full Text PDF

Somatostatin analogs (SSA) with their potent antisecretory and antiproliferative effects are the main medical treatment option for patients with neuroendocrine tumors, such as gastroenteropancreatic and acromegaly-associated growth hormone secreting pituitary tumors. Although a good portion of acromegalic patients gets normalized after SSA treatment, strict hormonal control is not achieved in a sizeable proportion of these patients. The reasons for this incomplete response to SSA treatment are unclear.

View Article and Find Full Text PDF

Germline mutations of the aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated PA. To provide further insights into the possible role of AIP in pituitary tumour pathogenesis, the expression of AIP and AHR was determined by real-time RT-PCR and/or immunohistochemistry (IHC) in a large series of PA (n=103), including 17 with AIP mutations (AIP(mut)). Variable levels of AIP and AHR transcripts were detected in all PA, with a low AHR expression (P<0.

View Article and Find Full Text PDF

Pituitary adenomas occur in a familial setting in about 5% of all cases, and over half of these are due to multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC). Non-MEN1/CNC familial pituitary tumours of all tumour phenotypes, known as familial isolated pituitary adenomas (FIPA), were first described in the late 1990s. Clinical features of FIPA differ from those of sporadic pituitary adenomas, as patients with FIPA have a younger age at diagnosis and larger tumours.

View Article and Find Full Text PDF

Background: Pituitary adenomas occur in a familial setting in about 5% of all cases and over half of these are due to multiple endocrine neoplasia type 1 (MEN1) and Carney complex (CNC). Since the late 1990s, we have described non-MEN1/CNC familial pituitary tumors that include all tumor phenotypes and have named this condition 'familial isolated pituitary adenoma' (FIPA). Clinical features of FIPA differ from those of sporadic pituitary adenomas in that patients with FIPA are often younger and have larger tumors at diagnosis.

View Article and Find Full Text PDF

Meningiomas are the second most common type of brain and CNS tumors by histology. Surgery and radiotherapy are main treatment options, but meningiomas may be impossible to adequately resect or may regrow after surgery. In spite of many experimental attempts, there is no generally accepted chemotherapeutic approach.

View Article and Find Full Text PDF

The similarities between patients with untreated growth hormone (GH) deficiency and those with the cardiometabolic syndrome and the beneficial effects of recombinant human GH (rhGH) on body composition have led to the hypothesis that rhGH treatment may have utility in obesity. GH release is reduced in the setting of obesity, primarily due to hyperinsulinism and increased free fatty acid levels. We reviewed the outcomes of 23 clinical studies carried out between 1987 and 2006 that examined the effects of rhGH administration in the obese state.

View Article and Find Full Text PDF

Context: Prevalence data are important for assessing the burden of disease on the health care system; data on pituitary adenoma prevalence are very scarce.

Objective: The objective of the study was to measure the prevalence of clinically relevant pituitary adenomas in a well-defined population.

Design: This was a cross-sectional, intensive, case-finding study performed in three regions of the province of Liège, Belgium, to measure pituitary adenoma prevalence as of September 30, 2005.

View Article and Find Full Text PDF

Somatostatin is an important physiological regulator of neuroendocrine function across multiple biological systems, including the brain and the gastrointestinal tract. In the pituitary gland, somatostatin regulates the secretion of hormones such as growth hormone and thyroid-stimulating hormone in healthy and pathological states. The short half-life of somatostatin makes it unsuitable for clinical use in chronic diseases, which led to the development of long-acting somatostatin analogs for the treatment of acromegaly and thyroid-stimulating hormone-secreting adenomas, which were administered by intermittent injection twice or three times a day.

View Article and Find Full Text PDF