Endocrine Abstracts

Background and Aims: Phaeochromocytoma and paragangliomas are neuroendocrine tumours arising from chromaffin cells. These tumours express somatostatin receptors (SSTRs), which has five different main subtypes (SSTR1, SSTR2, SSTR3, SSTR4 and SSTR5). The differential expression of the different receptor subtypes in these tumours has previously been reported with a small series of tumour samples. Our study examined the expression of SSTR subtypes in a larger series of benign and ...

p53 is rarely mutated in thyroid papillary carcinomas, despite the thyroid being highly sensitive to ionising radiation. The pituitary tumor transforming gene binding factor (PBF) is a proto-oncogene overexpressed in thyroid cancer. Oncogenic levels of PBF result in cell transformation in vitro and tumourigenesis in vivo. By serendipity we have found that PBF interacts directly with the tumour suppressor protein p53. In light of these data we have investigated th...

Background: SDH mutations cause about 80% of familial pheochromocytomas / paragangliomas (1). Although mutations in each subunit are associated with a particular clinical spectrum of disease, there is no clear genotype-phenotype correlation of a specific mutation, nor with penetrance of disease. We report characteristics of patients with SDH mutations seen in a single dedicated tertiary referral clinic.Methods: A retrospective observational study of pati...

Adverse health outcomes in survivors of childhood cancers are well recognised. Optimal models of care and their effectiveness in improving outcomes are not yet well established. As a National Cancer Survivorship Initiative test site, we have been working to improve local service provision. We have established transitional and adult ‘late effects’ clinics, developed a local database of survivors and pro-actively sought out those who were ‘lost to follow-up’....

Introduction: A joint ‘late effects’ clinic for follow-up of survivors of childhood cancer has been in operation in our institution since 1995. In patients who have undergone cranial irradiation, dynamic anterior pituitary function testing using a standard insulin tolerance test (ITT) or, if contraindicated, a glucagon or arginine/GHRH test was undertaken at around five yearly intervals.Methods: Case note review was undertaken for 24 patients (...

Introduction: The investigation and management of large adrenal lesions varies widely. It is appropriate to have a low threshold for surgical removal of large adrenal lesions with the possible exception of stable adrenomyelipomata. 18F-FDG PET is increasingly used as an imaging technique to assess these lesions. We would like to highlight the potential benefits and pitfalls of using 18F-FDG PET as part of the diagnostic pathway.Method: Since 2008, 18F-FD...

The biphasic effect of soy isoflavones (genistein and daidzein) on oestrogen receptor (ER)α+ breast cancer cell proliferation is well documented, with concentrations of ≤10 µM promoting proliferation, and growth inhibitory and apoptotic effects seen at concentrations ≥10 µM. However genistein concentrations as low as 1nM may inhibit the proliferation of some ERα-/β+ cells. This is at odds with epidemiological evidence ...

A 31 year old man presented with a two month history of sweating, right-sided abdominal pain and supraclavicular swelling. CT scanning showed widespread lymphadenopathy with multiple retroperitoneal lymph nodes. Biopsy of a left supraclavicular node resulted in a diagnosis of metastatic paraganglioma. Raised urinary catecholamine as well as urinary metanephrine levels further confirmed the diagnosis. A normocytic anaemia requiring repeated blood transfusions was believed to be...

Background: Kopetschke et al. (2009) suggested that nearly thirty per-cent of adrenal/extra-adrenal phaeochromocytoma were found incidentally1. However, they included cases from 1973 to 2007, whereas in the modern era CT and MR investigations are requested more frequently and earlier in the diagnostic algorithm.Methods: We report a pilot series of consecutive referrals to a tertiary centre for adrenal and extra-adrenal phaeochromocytoma from July ...

Vandetenib has been used as novel treatment of locally invasive medullary carcinoma of thyroid. We report the use of Vandetenib in a paediatric patient with inoperable medullary carcinoma of thyroid gland. Our patient presented to the dental surgeons at age 12 years with tongue and lip swellings. Biopsy demonstrated mucosal neuromas suggestive of MEN2B. He was clinically euthyroid but had a firm goitre. Ultrasound showed a large heterogenous thyroid mass encasing the common ca...

A 44 year old lady presented with weight loss to the gastroenterologists and a CT abdomen done picked up a mass below the pancreas. She underwent a percutaneous biopsy of this mass and the histology revealed a paraganglioma. She was referred to the endocrinology team. Subsequent questioning revealed coexistent symptoms of cataecholamine excess and plasma metanephrines of 4825 pmol/l and plasma normetanephrines of 166 pmol/L gave biochemical confirmation. MIBG scan showed a dir...

A forty-three year old woman (SR) presented to her GP in 2004 with persistent back pain. Following MRI, an incidental right adrenal mass was discovered. Laparoscopic adrenalectomy was performed in the private sector and histology was consistent with a phaeochromocytoma. No further biochemical investigations were performed at that stage. Six years later, her fourteen year old daughter presented with a solitary neck lump. Fine needle aspiration was inconclusive and subsequent le...

A 26 year old lady presented with a 4/12 history of abdominal distension and lethargy. PMH included learning difficulties and congenital hypotonia and she was in long-term foster care.Diabetes had been diagnosed requiring insulin a few months previously. Examination revealed her to be extremely unwell, with proximal myopathy, purple striae, hirsutism and a firm nodular thyroid gland. She was hypokalaemic (2.8 mmol/l) and alkalotic. Cushing’s assessment(table) revealed ACT...

Introduction: Cranial diabetes insipidus (DI) is a rare presenting complication of acute myeloid leukaemia (AML) or myelodysplasia, usually associated with complex cytogenetics. We report the case of a patient previously treated with cytotoxic therapy who presented with DI and AML. Case report: A 39 year old male presented with a three month history of lethargy, fatigue, and breathlessness. He also reported a ten day history of acute onset polydipsia and polyuria. He had been ...

Introduction: Adrenocortical carcinomas are rare aggressive tumors. 36 % of patients with ACC have distant metastasis on presentation. Although lung metastasis are commonly seen in metastatic Adrenocortical carcinoma, cannonball pulmonary metastasis which are solid and well circumscribed parenchymal masses of variable size are rare and typically seen in Renal cell carcinoma and also in other cancers such as bone sarcomas. We report a case of functional Adrenocortical cancer wi...

A 43 year-old presented with a first seizure in 1990 and a history of three distinct episodes of expressive dysphasia over the last 27 years. His CT scan showed a large middle cranial fossa tumour. He underwent urgent craniotomy and the tumour at resection was noted to be friable and covered with a number of small blood vessels. Frozen section was reported as angioblastic meningioma. He remained well for six years after which he presented with local recurrence of his tumour. T...

A 73 year old female presented with collapse secondary to hypoglycaemia. Investigations are summarised in the table attached. In the presence of raised tumour markers and a raised IGF2/IGF1 ratio, carcinomatosis was considered as the most likely underlying diagnosis. Nutritional support was arranged with additional carbohydrate dietary intake advised. She responded well with reduced hypoglycaemic frequency of hypoglycaemia. Investigations for underlying carcinoma were unable t...