Endocrine Abstracts

Aim: To estimate the prevalence and clinical significance of hyponatraemia in patients with lung cancer.Methods: The data were obtained from Hospital Registry. The serum sodium (SNa) on diagnosis was used for statistical comparisons. Normonatraemia is defined as SNa 135–144 mmol/l, hyponatraemia <135 mmol/l, and hypernatraemia >145 mmol/l. The data was analysed for small cell (SCLC), non-small cell (NSCLC) and unknown group where histologica...

Introduction: We present a rare case of 49-year-old patient with neurofibromatosis type I and somatostatin-secreting pancreatic neuroendocrine neoplasm. World literature describes about 30 cases of duodenal somatostatinoma in NFI1 and 1/3 of these cases with metastases to the lymph nodes or liver.Case report: In October 2013 patient was operated in emergency due to gastrointestinal tract obstruction. During the procedure inoperable head of pancreas tumou...

Objective: To characterise insulinoma diagnosed and treated in the period 1983–2014 in various hospitals in Spain.Methods: Inclusion criteria were the presence of biochemical and morphological criteria compatible with insulinoma and/or histologic demonstration of tumour.Results: Twenty-nine patients (23 women (79.3%); mean age 48.7±17.4 years (range, 16–74)) were recruited. In 26 (89.7%) cases the tumor was sporadic ...

Objective: There are a few studies regarding the relationship between psoriasis and polycystic ovary syndrome (PCOS).The aim of present study was to identify the prevalence of PCOS in patients with psoriasis.Material and methods: A retrospective study has been performed upon 1236 patients diagnosed with psoriasis (male 54.13%, female 45.87%) during 2004–2011. The prevalence of polycystic ovary syndrome (PCOS) has been quantifi...

Introduction: Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Herein, we report a case of congenital hyperinsulinism (persistent hyperinsulinaemic hypoglycaemia of infancy, nesidioblastosis) and review of the relevant literature regarding on the aetiology, pathogenesis, clinical and pathological features, diagnosis and treatment of this disorder....

Introduction: Lymphomas account for <5% of thyroid malignancies. The vast majority of them are non-Hodgkin’s lymphomas (NHL), especially mucosa-associated lymphoid tissue lymphomas (MALT) and diffuse large B-cell lymphomas (DLBCL). However, Hodgkin’s lymphoma affecting thyroid gland is very rare. Worldwide has been reported <50 cases so far and we describe another one.Case report: A 22-year-old woman was referred to our department of en...

Introduction: Primary hepatic neuroendocrine tumours (PHNTs) are a very rare medical entity. Usually, the liver represents the preferential site for metastasis. Large sized, singular nodules are the usual presentation of PHNTs. We report a patient with PHNTs at 4 years of tumour free follow-up.Case presentation: A 45-year-old Caucasian female who presented with nausea, vomiting, diarrhoea, accompanied by diffuse abdominal pain, was found to have on contr...

Introduction and purpose: Acromegaly is characterised by a chronic increase of GH and IGF-1 levels that may induce various clinical symptoms and multisystem comorbidities. The purpose of this study is to evaluate the type and frequency of thyroid disease most often associated with acromegaly patients.Material and methods: We conducted a retrospective observational study analysing the data from the observation charts of 77 patients with acromegaly (58 fem...

Introduction: Multiple endocrine neoplasia type 4 (MEN4) is a rare disorder, caused by inactivating mutations in CDKN1B gene that encodes p27kip1 cyclin-dependent kinase inhibitor. To date nine different germline CDKN1B mutations have been described in patients with clinical features of multiple endocrine neoplasia type 1 (MEN1) negative for MEN1 mutations (MEN1 phenocopies).Case report: We present a female 54 y.o. w...

Introduction: Bilateral adrenalectomy (BA) is rarely applied as a therapeutic procedure. It serves as a life-saving treatment in patients with persistent Cushing’s disease after an ineffective pituitary surgery or in ectopic ACTH production. Other indications for BA are: bilateral adrenocortical adenomas, congenital adrenal hyperplasia and bilateral phaeochromocytoma in patients with hereditary paraganglioma-phaeochromocytoma (PPS/PGL) syndromes. It is also a procedure of...

The aim of study was to make a retrospective audit of diagnostic approach of symptomatic and asymptomatic patients with adrenal tumours diagnosed at VUHSK from 2010 to 2013.Methods: Cases coded as D35.0; D44.1; E27.0; E27.5; E27.8; E27.9 according to ICD-10 classification were retrieved from database. Electronic data capture system was used to collect information.Results: There were 527 (123 men, 404 women) patients, age 62.5±...

We measured chromogranin A (CgA) and chromogranin B (CgB) in 36 patients, recently confirmed to have a midgut carcinoid tumour (MGC), prior to the commencement of octreotide treatment. Blood samples were taken before and after a bolus injection of 50 μg octreotide. There were 21 males, 15 females, age range 28–76 median 61 years.Basal CgA, expressed as times the upper limit of normal (ULN) ranged from 333.3 to 0.5 ULN. Basal CgB ranged from 33....

Introduction: Pancreatic neuroendocrine tumours (pNETs) can either occur in patients with a familial syndrome, like multiple endocrine neoplasia type 1 (MEN-1), or being sporadic. In the last decade, endoscopic ultrasound (EUS) has become one of the first-line investigations for the characterisation of pNETs. The ultrasonographic features of a pNET might differ depending on the familial vs sporadic pathogenesis of the tumour. Therefore, the EUS findings might help and direct t...

Aim of the study: Thyroid cancer comprises the most common endocrine malignancy and a variety of studies have examined the incidence of carcinomas in n thyroid disorders. Objective of the present retrospective study was the assessment of the possible influence of age and gender parameters in the presence of thyroid carcinoma in a patient who underwent total thyroidectomy.Material and methods: We studied 107 patients (96 females/11 males) underwent total ...

TIM16 a component of the translocase complex TIM23 of the mitochondrial inner membrane is encoded by the Magmas gene. Magmas was found to be over-expressed in human pituitary adenomas. Silencing Magmas in ACTH secreting rat pituitary adenoma cells enhances sensitivity to pro-apoptotic stimuli. Moreover, Magmas overexpression protects GH secreting rat pituitary adenoma cell lines towards apoptosis. Recently, we found that compound 5, a TIM16 inhibitor, is not cytotoxic but enha...

The pathophysiology differs significantly between primary and secondary hyperparathyroidism. Whole exome sequence analysis of parathyroid adenomas showed few somatic variants. The underling mechanisms of the occurrence of sporadic primary hyperparathyroidism remain largely unknown. In this study, we analysed the differences in gene expression between primary and secondary hyperparathyroidism to explore potential functional alterations. Total RNA was extracted from tissues obta...

In our centre we use CNB for routine study of thyroid nodules since 2005. Four diagnostic categories for CNB’s results have been standardised: insufficient; benign; follicular proliferation (FOL), including follicular and oncocytic neoplasms; and malignant. Diagnosis of FOL was defined according to the presence of microfollicular patterned biopsies with scant or absent colloid, sometimes with minimal pleomorphism or discrete nuclear changes. This category could be equival...

Adult patients with acromegaly after pituitary adenomas usually have emotional problems, impaired quality of life. Objective was to detect possible differences of emotional state between patients with acromegaly after pituitary adenomas and healthy age- and sex-matched controls and to outline possible gender-specific differences.Patients and methods: 12 males (age 49.6±10.2 years) and 29 females (age 51.5±9.5 years) with acromegaly after pituit...

Introduction: Von Hippel–Lindau (VHL) disease is a rare autosomal dominant syndrome (1/36 000 live births) with highly penetrance that predisposes to the development of benign and malignant, highly vascularised tumours in many organs.Case reports: Two women with VHL, without family history of VHL, were admitted to Department of Endocrinology for checkups. The diagnosis was made based on genetic tests.Patient A: A 53-year-old w...

Introduction: Functional islet β-cell tumours represent 1–2% of all pancreatic neoplasms. Diagnosing this type of tumour is often challenging because they present with unspecific clinical features overlapping more common syndromes. Diagnosis involves expensive testing, so, establishing whipple’s triad and excluding causes of exogenous hyperinsulinaemia is crucial before initiating investigation.Objective: To report a rare case of a proinsu...

Study for morphological and hormonal changes in the parathyroid glands in 35 patients with primary hyperparathyroidism was carried out. Post-mortem material (five bodies) used to control. All patients had primary hyperparathyroidism and elevated levels of parathyroid hormone and ionized calcium in serum. Morphometric study evaluated the cellular structure (chief and oxyphil cells) and calculated the ratio of the basic elements of parathyroid cells (nucleus, cytoplasm) and stro...

Nesidioblastosis is defined as a diffuse proliferation of primitive pancreatic islet cells budding from ductal epithelium. This condition can cause hypoglycaemia in infants as a result of mutations in the sulfonylurea receptor or in the anatomically linked potassium channel. In adults, this disease occurs independently from these genetic mutations.Case report: A 41-year-old male was referred to our center via emergency room with suspicion of an insulinom...

Introduction: Pituitary apoplexy is a rare endocrine emergency characterized by the sudden onset of severe headaches, vomiting, visual abnormalities and pituitary dysfunction secondary to an acute hemorrhage or infarction within a pituitary adenoma.Subjects and methods: We report a retrospective study from 2000 to 2014 of 23 cases with pituitary apoplexy. Their mean age was 38.7±14.8 years, with a male to female ratio of 2:1.R...

Aim: Hyperinsulinaemia is frequent finding in patients with hyperprolactinemia and has associations with thyroid volume. In this study, we evaluated the association between thrombotic markers, insulin resistance, CIMT, and thyroid volume in female patients with prolactinoma.Material and methods: 38 women with prolactinoma and 24 healthy women were included to the study. We evaluated anthropometric, biochemical, hematologic and hormonal parameters as well...

Introduction: Multiple endocrine neoplasia type-1 (MEN-1) is an autosomal dominant disorder MEN-1 diagnosis is established as the occurrence of two or more MEN-1 associated tumour or one MEN-1 associated tumour in a patient that have 1 MEN-1 family member or positive MEN-1 genetic mutation. MEN-1 associated tumours usually involve the parathyroid glands, anterior pituitary and enteropancreatic cells but many other tumours may be seen. In this report, we presented a gastrointes...

Introduction: Micropenis is defined as a stretched penile length of <2.5 S.D., which can be diagnosed from birth to adolescence. It is idiopathic or associated with a chromosomal abnormality, hypogonadism, pituitary abnormality or a complex malformation syndrome. The therapeutic management of this disease should be early to get a favorable response and absence of impact objective. Clarify the clinical and etiological aspects of micropenis of patients followe...

Introduction: MEN1 is a rare syndrome characterised by hyperplasia or neoplasm of the parathyroid glands, pituitary, pancreas or duodenum and can associate, less frequently, phaeochromocytoma, thymic or bronchial carcinoids, multiple lipomas, cutaneous angiofibromas and thyroid adenomas.Case report: A 47-year-old woman with MEN1 presenting parathyroid recurrent adenomas, a pituitary prolactin-growth hormone cosecreting macroadenoma, associated with an in...

Introduction: Breast cancer is one of the diseases causing the most deaths in women worldwide. Obesity, especially in postmenopausal women is a definite risk factor due to hormonal imbalance mainly to the levels of circulating oestrogen. The aim was to record levels for some gonadal axis hormones in breast cancer treated obese women.Patients and methods: 81 women aged between 21 and 80 years 54 are diagnosed with breast cancer (BC) during postmenopausal ...

Introduction: Neuroendocrine tumours or TNE form from cells of the endocrine and neurological system at any point in the body and are characterised by their ability to secrete hormones and express protein markers. They are often benign, but some are malignant and can easily metastasise.Objective: To describe the clinical, paraclinical and scalable of TNE endocrinology observed outside medullary carcinoma and phaeochromocytoma.Popul...

Introduction: The anticancer action of vitamin D is currently considered one of its main properties. The main actions of vitamin D are related to the regulation of calcium levels and the normal function of the musculoskeletal system. However, its anticancer action is currently in the focus of research interests.Aim: The aim was to study the effect of vitamin D on MCF-7 human breast cancer cells in vitro.Methods: The effect...

Introduction: It has been reported that blind women with disturbed melatonin secretion have a lower incidence of breast cancer. A higher incidence of breast cancer has been reported in women in shift work, in which lower nocturnal melatonin secretion is observed. The anticancer action of melatonin is currently the focus of research interest.Aim: The aim was to study the effect of melatonin on MCF-7 breast cancer cells in vitro.<p class="abst...

Introduction: Melatonin is an indole being produced by the pineal gland and secreted mainly during the night. Melatonin is involved in the regulation of biological rhythms. The hormone possesses antioxidant action and is thought to be involved in the protection of the organism from the development of malignant tumors. Melatonin has been found to have anticancer action in vitro as is has been observed to inhibit the proliferation of cancer cells in vitro.<...

Introduction: Apart from occurring sporadically, insulinoma within the framework of multiple endocrine neoplasia 1 (MEN-1) is well known. The rare presence of multifocal insulinomas has recently been assigned a separate entity (insulinomatosis). The difficulty of localising insulinomas may be improved by GLP1-receptor imaging.Case report A 48-year-old woman had been treated for suspected epileptic seizures for 2 years (lamotrigine). During another such e...

Background and aim: Primary hyperparathyroidism (PHPT) is a frequent endocrinopathy among postmenopausal women, leading to hypercalcaemia, osteoporosis and nephrolithiasis. PHPT may represent the first manifestation of certain familial syndromes. Among these, multiple endocrine neoplasia syndrome type 1 (MEN-1) caused by germline mutation of MEN1, the gene encoding menin, is the most frequent. Additionally, somatic mutations of MEN1 and microRNAs silencing <e...

Introduction: Vitamin D is a hormone related to calcium homeostasis and normal function of the musculoskeletal system. Recently, the extraskeletal actions of vitamin D are the focus of scientific interest. The hormone is thought to possess anticancer properties, these properties being especially related to cancer of the prostate.Aim: The aim was to study the effect of vitamin D on PC3 prostate cancer cells in vitro.Methods...

A positive expression of oestrogen-receptors has recently been demonstrated in pancreatic neuroendocrine tumours as well as in non-neoplastic islet-cells. This prompted us to systematically analyse the expression of both oestrogen and progesterone receptors in a series of GEP neuroendocrine tumours. We analysed oestrogen- and progesterone-receptor in 69 foregut GEP, 25 midgut GEP and seven hindgut GEP. Namely, the foregut GEP included 53 pancreatic NET. All tumour samples were...

Introduction: Patients with MEN1 have increased morbidity and mortality compared to those patients with sporadic NETs. No genotype-phenotype correlation is described and age-related clinical penetrance surpasses 50 and 90% by 20 and 40 years, respectively. The aim of the audit was to compare the screening programme for MEN1 patients with MEN1 clinical guidelines.Methods: Case notes of MEN1 patients attending a tertiary NET-multidisciplinary team (MDT) in...

Introduction: Acromegaly is a relatively rare endocrine condition caused by GH oversecretion by pituitary adenoma. Its most frequent complications include cardiovascular and respiratory system diseases with high tendency of neoplastic transformation and increased risk of benign and malignant tumors. The aim of this retrospective study was to assess the prevalence of benign and malignant neoplasms in patients with acromegaly.Materials and methods: We have...

Somatostatin exerts its inhibitory effects on hormone secretion and cell proliferation via five receptors subtypes (SST1-SST5). After agonist binding, receptor residues mainly located in the carboxyl terminal (CT) and in the third intracellular loop (IC3) are phosphorylated and β-arrestins are recruited to drive SSTRs internalization.Aim of the study is to characterize the intracellular mechanisms responsible for SST2 internalization and identify th...

Abstract: Transarterial embolisation (TAE) is an effective treatment for liver metastases from neuroendocrine tumour (NET). It reduces arterial blood flow to the tumour resulting in ischemia and necrosis. In this single centre retrospective study the effectiveness and safety of TAE was evaluated.Patients and methods: 30 patients with histological confirmed gastro-entero-pancreatic NET with liver metastases were investigated. Tumour response, decline in s...

Background: Medullary thyroid carcinoma (MTC) is characterised by a high concentration of serum calcitonin. Routine measurement of serum calcitonin concentration has been advocated for detection of MTC among patients with nodular thyroid diseases. The aims of our study were to identify medullary thyroid cancer (MTC) in its earliest stages by screening patients with basal calcitonin measurements and to determine whether basal serum calcitonin measurements should be a part of ou...

Aims: Primary hyperparathyroidism (PH) has been reported to be associated with increased insulin resistance, hypertension, dyslipidemia and cardiovascular inflammatory markers. The aims of this study were to evaluate the rate of metabolic syndrome (MS) and effect of parathormone, calcium and phosphorus levels to MS components in PH subjects.Methods: One hundred and fifty one subjects, 23 men and 128 women, aged 53±11.2 years with newly diagnosed PH ...

Context: Mitotane (1,1-dichloro-2-[o-chlorophenyl]-2-[p-chlorophenyl]ethane) is the only drug approved for treatment of adrenocortical carcinoma (ACC). Mitotane counteracts both tumor growth and tumoural steroid hormone production but treatment is severely hampered by unfavorable pharmacokinetics and serious side effects. Mitotane is a lipophilic compound and treatment emergent alterations of lipid metabolism are frequently observed. This raises the question whether mitotane d...

Colorectal cancer (CRC) is the third most common cancer worldwide with incidence expected to rise. Although not traditionally viewed as a hormonal cancer, evidence suggests peripheral synthesis of active oestrogens worsens prognosis. Oestrogen metabolising enzymes include steroid sulphatase (STS), which desulphates oestrogens into their active forms, and 17β-hydroxysteroid dehydrogenases (17βHSD), which are estrogen oxidoreductase enzymes. We have previously shown ST...

Pancreatic neuroendocrine tumors (PNETs) are uncommon neoplasms from the endocrine pancreas, whose incidence is recently rising. Unfortunately, an advanced stage is often found at diagnosis; thus, identification of new molecular diagnostic, prognostic, and therapeutic markers is required. Ghrelin and somatostatin/cortistatin systems are two multifunctional regulatory complexes widely distributed throughout multiple tissues, including the pancreas, where they exert diverse (pat...

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare autosomal dominant condition characterized by primary hyperparathyroidism (<90%) as a result of parathyroid adenoma or carcinoma (10–15%), ossifying fibromas of mandible and maxilla (30–40%), renal lesions (20%) most commonly cysts and benign and malignant uterine tumours and caused by germline CDC73 pathogenic gene mutations. Currently only 200 cases reported in medical literature. His management has pro...

Background: Parathyroid carcinoma (PC) is a rare cause of primary hyperparathyroidism (PHPT), accounting for <1%, with an equal gender distribution and an average age of diagnosis in the fifth decade of life. The diagnosis of PHPT is based on the laboratory finding of high levels of immunoreactive PTH in the presence of severe hypercalcaemia. The only potentially curative treatment for PC is surgery. Early surgery is the most important factor for optimal outcome.<p cla...

Thyroid cancer is one of the most frequent malignancies of the endocrine system, and its incidence is predicted to become the fourth leading cancer diagnosis by 2030. Among thyroid carcinomas, anaplastic thyroid cancer (ATC) is the most aggressive and lethal tumor, which grows very rapidly, invades adjacent tissues and metastasizes, causing death in 1 year from diagnosis. We recently showed that in thyroid cancer PATZ1 expression is downregulated compared to normal thyroid and...

Introduction: Adrenocortical tumours comprise frequent adenomas (ACA) and rare highly malignant carcinoma (ACC). Livin/ML-IAP/BIRC7 is a member of the inhibitors of apoptosis proteins family, which are involved in tumorigenesis, mostly through the inhibition of caspase-3. Aim of the study was to evaluate the expression of livin/BIRC7 in normal and neoplastic adrenal glands.Methods: The mRNA expression of BIRC7, its isoforms livin α...

Somatostatin analogs (SSA) effectively control symptoms in neuroendocrine tumours (NET), besides showing antiproliferative activity. In progressive or metastatic NET, increasing SSA dose or shortening the dosing interval are common clinical practice, though empirical. Aim of this study is to evaluate efficacy and safety of high-dose SSA treatment in patients with progressive disease under standard SSA dose. Twenty-one patients (median age 56.8 years) with NET of different orig...

Objectives: Craniopharyngioma is a benign tumour of the suprasellar region that is associated with increased morbidity and mortality in comparison to other causes of hypopituitarism. We aimed to establish the mode of presentation, investigations, treatment outcomes, mortality and subjective improvement in patients with craniopharyngioma in a single institution over 10 years.Design: Retrospective case notes review of patients with Craniopharyngioma on end...

We have earlier shown that treatment with gonadotropin releasing hormone antagonist blocked adrenocortical tumour progression through gonadotropin suppression in inhibin α/SV40 T-antigen (inhα/Tag) transgenic (TG) mice. Hereby, we investigated the molecular mechanisms underlying the GnRH antagonist (Cetrorelix acetate; GnRH-a) treatment induced potential antitumor effects on gonadal somatic cell and adrenocortical tumors in vivo and in vitro. In...

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumour syndrome with an important phenotypic variability. Genetic testing for VHL is simple and accurate.Objective: In this study, we investigated the relationships between genotype and phenotype in a series of patients with different VHL gene mutations.Method: This was a retrospective analysis of the clinical and molecular characteristics of 15 VHL pati...

Adrenocortical carcinoma (ACC) is rare malignancy associated with limited treatment options and poor prognosis. The aim of this study is to review clinical characteristics and survival of patients with ACC in single centre. We retrospectively analysed 60 patients (37 female and 23 males) with pathologically confirmed ACC who were treated at our institution between January 2005 and December 2014. Staging was performed according to European Network Study of Adrenal Tumours (ENS@...

Introduction: CyberKnife (CK) is an emerging treatment for pituitary tumours (PT) resistant to other therapies.Patients and methods: We report long-term CK effect on endocrine function and tumour volume in 20 PT patients (11M/10F, mean age 58.6±14.4years). Twelve patients harboured a non functioning adenoma, 2 an ACTH, 5 a GH (one case of TSH co-secretion) and 2 a PRL-secreting PT. Before CK nine patients had normal while 11 presented impaired pitui...

Real-time shear wave ultrasound elastography (SWE) is a new technique, which evaluates elasticity and stiffness of the different structure.Aim: To determine the values of the elasticity index (EI) measured by SWE in parathyroid gland adenomas and to compare with those of normal thyroid tissue.Subjects and methods: We studied 50 cases (F/M=42/8), ten with primary or tertiary hyperparathyroidism, diagnosed by specific tests, and 40 h...

Background: NETs are a rare heterogeneous group of malignancies, often with a delayed diagnosis. Although diagnosis of NETs is increasing (due in part to greater awareness), little has been published on the NET patient experience. We present data on the EU NET patient perspective.Methods: In 2014, 1928 NET patients from >12 countries, including EU (n=763: Belgium, Bulgaria, France, Germany, Norway, UK, other EU countries (not specified by re...

Background: Vitamin D receptor (VDR) and progesterone receptor (PR) expression have been described before in papillary thyroid carcinoma but data regarding association of this expression with tumour histological characteristics are scarce.Materials and methods: Formalin-fixed, paraffin-embedded specimens from adult patients with papillary thyroid carcinoma (PTC), who underwent total thyroidectomy from 2009 to September 2012 were retrieved. Data regarding...

Introduction: Medullary thyroid carcinoma (MTC) is a malignant neoplasm derived from the parafollicular cells of the thyroid gland. Approximately 25% of them are caused by germline mutations of the RET gene, presenting as a part of FMTC, MEN2A or MEN2B syndrome.Design of the study: We analysed 213 consecutive patients with MTC (142 females, 71 males, age 6–78, mean 45 years), treated in a single centre from 2004 to 2014. Direct DNA sequenci...

The search for new differentiating biomarkers in follicular-cell derived thyroid tumors (FCDT), especially for the FNAB with underdetermined cytology, is an important scientific task. Disturbed expression of tumor suppressor genes plays important role in thyroid carcinogenesis. In this study we focused on epigenetic mechanism influencing on trefoil factor 3 (TFF3) and tissue inhibitor of metalloproteinases 3 (TIMP3) expression.Aim of the study: Evaluatio...

Introduction: Etomidate is an imidazole derivative which inhibits several enzymatic steps (11β-hydroxylasey, 17β-hydroxylase, 17,20-lyase, cholesterol side-chain cleavage). Intravenous etomidate at sub-anaesthetic doses remains an important option when i.v. administration is required for rapid treatment of severely ill patients with hypercortisolaemia (Cushing’s syndrome, CS) and is almost always very effective.Case series: A 49-year-old w...

Introduction: Struma ovarii is a rare condition which elicited considerable interest because of its many unique features like its relationship to teratoma and differentiated thyroid cancer. The most common thyroid carcinomas to arise in struma ovarii are papillary and follicular.Objectives: We describe two patients with differentiated thyroid carcinoma originating from malignant struma ovarii.Results: Our index patient is a 32-year...

Introduction: Testicular leydig cell tumours (LCTs) are rare stromal tumors often associated with androgen excess. Metastatic malignant LCTs typically show resistance to radiotherapy and cytotoxic chemotherapy, calling for alternative management options. Here we describe our experience with treatment of two patients with metastatic LCTs with the adrenolytic drug Mitotane.Patients/methods: Case 1: A 51-year-old patient presented with a 6 month hi...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a genetic disorder involving mainly parathyroid tumours, pancreatic neuroendocrine neoplasms (pNENs) and pituitary tumours. In the present study we have registered demographic, clinical, imaging, pathological characteristics, therapeutic options, response to treatment and overall outcome of patients with MEN1.Methods/design: 35 patients with MEN1 registered in our data base have been studied (14...

The full-length retinoblastoma interacting zinc-finger protein (RIZ), codified by ten exons, has tumour suppressive and differentiating properties and is known to be a downstream effector in classical oestrogen target tissue. In many normal and malignant tissues alternative splicing isoforms, RIZ1 and RIZ2, frame-shift mutations and/or exon deletions have been found, but their oncogenic role is still debated. Although the presence of RIZ1 in the testis has been described, in g...

Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.Design: Retrospective case series.Patients: Five of...

Objective: The aim of the study was to describe the surgical management of phaeochromocytomas and paragangliomas which lie in close proximity to or involve the great vessels including the aorta and vena cava.Design: Retrospective case-series. Patients: five subjects undergoing surgical excision of either a phaeochromocytoma or paraganglioma involving the great vessels seen at St Bartholomew’s Hospital, UK (2004–2013).Meas...

Introduction: Von Hippel-Lindau (VHL) syndrome is a complex multi-organ disorder with significant associated morbidity and mortality. Patients see multiple specialities and have many clinic appointments which can significantly disrupt their lives. In 2012 the St Bartholomew’s VHL multi-disciplinary clinic was set up. It consists of an amalgamated one-stop clinic for patients and their families when all relevant specialities are seen in one sitting. The major aims were to:...

Ovarian carcinoma (OC) is the most deadly and leading cause of cancer death occurring in the female reproductive tracts. Several factors involved in ovarian carcinoma remain poorly defined and the therapy for OC is limited. Epidemiological data strongly suggest that endogenous and exogenous steroid hormones may play important roles in ovarian carcinogenesis. One of the primary steroid hormones, progesterone (progesterone), offers protection against ovarian carcinogenesis. We p...