Malignant phaeochromocytoma metastasising to the breast

Background Nearly one-quarter of metastatic tumours in the breast are from an occult extramammary tumour, usually a lung carcinoma. Aim To report on a patient with a history of metastatic malignant phaeochromocytoma and a breast mass. Result A 54-year-old female presented with a right breast mass. At the age of 32, she had presented with a phaeochromocytoma. The staining of the breast mass was comparable with that of her original adrenal tumour. Conclusion This is the first published case of a phaeochromocytoma metastasising to the breast, and demonstrates the challenge that extramammary tumours in the breast can pose for the pathologist.     

Hypercalcaemia and phaeochromocytoma.

A patient with a phaeochromocytoma associated with hypercalcemia is described. The hypercalcaemia was corrected by removal of the phaeochromocytoma. Parathyroid hormone-like peptide was isolated from the tumour suggesting that ectopic parathyroid hormone production from the phaeochromocytoma was the explanation of the hypercalcaemia.     

Recurrence of asthma following removal of a noradrenaline-secreting phaeochromocytoma

A patient with asthma and a phaeochromocytoma is described. At about the time she was first noted to be hypertensive her asthma resolved spontaneously but bronchospasm returned with some severity when the tumour was removed. The phaeochromocytoma was of the noradrenaline secreting variety. Possible mechanisms through which this catecholamine might have produced the observed alleviation of asthma are considered.     

Recurrence of Phaeochromocytoma and Abdominal Paraganglioma After Initial Surgical Intervention

BackgroundClinical and biochemical follow up after surgery for phaeochromocytoma is essential with long term studies demonstrating recurrence frequencies between 6% and 23%.AimTo examine the characteristics and frequency of tumour recurrence in a regional endocrine referral centre, in patients with surgical resection of phaeochromocytoma (P) and abdominal paraganglioma (AP).MethodsWe identified a cohort of 52 consecutive patients who attended our Regional Endocrinology & Diabetes Centre and retrospectively reviewed their clinical, biochemical and radiological data (between 2002 and 2013). After confirmation of early post-operative remission by negative biochemical testing, tumour recurrence was defined by demonstration of catecholamine excess with confirmatory imaging.ResultsPhaeochromocytoma was confirmed histologically in all cases (43:P, 9:AP, mean-age:53years). Open adrenalectomy was performed in 20 cases and laparoscopically in 32. Hereditary phaeochromocytoma was confirmed by genetic analysis in 12 (23%) patients. Median follow up time from initial surgery was 47 months, (range: 12 - 296 months), 49 patients had no evidence of tumour recurrence at latest follow-up. Three patients (6%) demonstrated tumour development, one in a patient with VHL which occurred in a contralateral adrenal gland, one sporadic case had local recurrence, and an adrenal tumour occurred in a patient with a SDHB gene mutation who had a previous bladder tumour. After initial surgery, the tumours occurred at 8.6, 12.0 and 17.7 years respectively.ConclusionIn this study tumour development occurred in 6% of patients. Although tumour rates were low, careful and sustained clinical and biochemical follow up is advocated, as new tumour development or recurrence may occur long after the initial surgery is performed.     

Giant phaeochromocytoma: Case report

A case of giant phaeochromocytoma occurring in a 47-year-old man with no signs or symptoms of catecholamine secretion is reported. Abdominal ultrasound scanning, chest X-ray, computed tomography and magnetic resonance imaging were preoperatively performed. The patient was operated through a thoracoabdominal incision and section of the left hemidiaphragm. The giant retroperitoneal mass was en-bloc resected together with the left adrenal gland. Macroscopic sectioning showed a smoothly rounded 29 x 21 x 12 cm tumour attached to a normal left adrenal gland, weighing 4050 gr. The huge size of the neoplasm, the several areas of necrosis, the size and monomorphic appearance of the cells, and the large number of mitotic figures afforded a diagnosis of malignant phaeochromocytoma.     

Synchronous carcinoid tumour of the small intestine and appendix in the same patient

Carcinoid tumours have been reported in a wide range of organs but most frequently involve the gastrointestinal tract. Many of these carcinoid tumours are associated with metachronous and synchronous lesions of another histological type. Primary carcinoid tumours of the different organ in the same patient is rare. In this paper, the authors present a case with synchronous carcinoid tumour of the small intestine and appendix in the same patient.     

Phaeochromocytoma with unilateral renal artery stenosis

A patient with renal artery stenosis due to compression by a phaeochromocytoma is described. He underwent nephrectomy and tumour removal successfully.     

Phaeochromocytoma in a coeliac ganglion in pregnancy

A case of a phaeochromocytoma is reported which presented as collapse in the postpartum period. The site of the tumour was in the coeliac ganglion.     

Phaeochromocytoma and acute cardiovascular death (with special reference to myocardial infarction)

The causes of death, as determined by autopsy, in 10 patients dying from the acute effects of phaeochromocytoma were myocardial infarction (five patients), left ventricular failure (two patients), cerebral haemorrhage (two patients) and circulatory collapse with malignant phaeochromocytoma (one patient). Most patients died shortly after admission during the course of a fulminant cardiovascular illness and the underlying tumour was unsuspected in eight instances. The clinical features and post-mortem cardiovascular findings are reviewed.     

Multiple endocrine neoplasia associated with von Recklinghausen's disease

Details were studied of three patients with duodenal carcinoid tumour in association with neurofibromatosis and phaeochromocytoma, and of four patients with duodenal carcinoid and either von Recklinghausen's disease or phaeochromocytoma. The rarity of these endocrine tumours, together with the unusual morphological features and somatostatin content of the two duodenal carcinoids examined, suggest that this combination of tumours is not a chance association. It is suggested that this linkage of neurofibromatosis, phaeochromocytoma, and duodenal carcinoid is a specific multiple endocrine neoplasia syndrome.     

Watery diarrhoea and hypokalaemia associated with a phaeochromocytoma

The syndrome of water diarrhoea, hypokalaemia and achlorhydria (WDHA) is well described in association with a non-beta islet cell tumour of the pancreas. The following case report is of a 28-year-old woman with a WDHA syndrome that was cured by the removal of a phaeochromocytoma.     

Carcinoma of the oesophagus associated with membrano-proliferative glomerulonephritis.

Nephrotic syndrome has been observed in association with different types of neoplasia. This appears to be the first report of the occurrence of the nephrotic syndrome due to membrano proliferative glomerulonephritis in association with carcinoma of the oesophagus. Although proteinuria was present before excision of the tumour, the nephrotic phase occurred subsequently. Eventually it disappeared leaving the patient with a clear urine and biochemical and histological improvement of the renal lesion (including immunofluorescent and electronmicroscopy studies). Possible mechanisms responsible for the nephrotic syndrome in this case are discussed.     

Multiple endocrine neoplasia type 2b: long-term follow-up of a case

Multiple endocrine neoplasia type 2b is a rare inherited syndrome which comprises the association of medullary thyroid carcinoma, phaeochromocytoma, widespread neuromatous proliferation and a characteristic body habitus. In this report we present the late clinical course and autopsy findings of the first patient with this syndrome described in Australia. At presentation she was found to have a right adrenal phaeochromocytoma and medullary thyroid carcinoma which were resected in separate operations. No clinical or biochemical evidence of residual medullary thyroid carcinoma was identified in life. However, in spite of serial vanillylmandelic acid estimations, which showed normal or only mildly elevated levels, and normal results of urinary catecholamine studies, a left adrenal phaeochromocytoma was identified in a metaiodobenzylguanidine (MIBG) study performed 14 years after presentation. Her late clinical course was dominated by progressive dysphagia, intestinal dysmotility and megacolon associated with unrelenting malnutrition. After her death due to an intracerebral haemorrhage, an autopsy confirmed the presence of a left adrenal phaeochromocytoma and revealed diffuse intestinal ganglioneuromatosis to be the cause of her intestinal dysmotility. No residual medullary thyroid carcinoma was found. This case emphasises the propensity for multiple endocrine tumours in these patients and highlights the potentially significant role of intestinal ganglioneuromatosis in the natural history of this condition.     

Malignant phaeochromocytoma and hypercalcaemia.

We describe a case of hypercalcaemia secondary to recurrent malignant phaeochromocytoma. Parathyroid-related protein (PTHrp 1-86) immunoreactivity was identified in plasma and PTHrp was identified by immunocytochemistry in tumour tissue.     

Ancient schwannoma of the conus medullaris

Cystic spinal or ancient schwannoma is a rare form of intradural tumour especially in the conus medullaris region. Due to its indolent behavior and benign course, the diagnosis of schwannoma is always a challenge and the imaging findings can be misleading. Our patient presented with chronic mild sciatica pain without any other neurological symptom. MRI of the spine showed intradural tumour located at the conus medullaris region with nerves compression and was reported as ependymoma. L3-L5 laminectomy and total excision of tumour was performed without any neurological complication. We concluded that ancient schwannoma of the conus medullaris is a rare benign tumour that can present with minimal non-specific neurological symptom that lead to misdiagnosis. Radical tumour excision is safe with an excellent outcome.     

A patient with co-existing bronchial carcinoid tumour and bilateral phaeochromocytoma.

We report a 31-year-old Chinese man with bronchial carcinoid tumour and bilateral phaeochromocytoma. His sister also gave a history of bilateral carotid body paraganglioma. This case demonstrates the importance of screening for other endocrine disorders in patients with foregut carcinoid tumours.     

Giant cell tumour of talus--a case report

Giant cell tumour of the talus bone is rare and is usually seen in skeletally mature adults. Here a case of giant cell tumour of the talus in a skeletally immature boy of 15 years is reported. The patient presented with swelling and tenderness of the left ankle with an osteolytic lesion seen in the talus on x-ray. A trephine biopsy followed by left talar excision was done. Following the biopsy report the patient underwent arthotomy and joint clearance. There was no recurrence noted at six months follow-up.     

Extra-abdominal desmoid tumour of the leg

Extra-abdominal desmoid tumour is a rare tumour and only a few cases occurring in the limbs have been reported. A 35-year-old woman presented with gradually increasing swelling in the upper leg. She had a mild, dull, aching pain in the tumour. Wide local excision was done and the tumour was found mainly in the subcutaneous tissue, which histopathologically proved to be an extra-abdominal desmoid tumour. This case had an abnormal radiological appearance of peripheral calcification of tumour and saucer-shaped lesion in the underlying tibial cortex. The patient had no recurrence at two years follow-up.     

The impact of recent advances in diagnostic technology on the clinical presentation of phaeochromocytoma.

OBJECTIVE: To examine the impact of recent advances in diagnostic technology on the spectrum of clinical and biochemical features of patients presenting with a new diagnosis of phaeochromocytoma. DESIGN: A retrospective review of the clinical and biochemical features of patients diagnosed by our laboratory as having phaeochromocytoma within a 27-month period up to December, 1990. Noradrenaline, adrenaline and dihydroxyphenylglycol were assayed in 24-hour urine specimens (19 patients) or plasma (1 anuric patient) by gas chromatography/mass spectrometry. SETTING: A tertiary level chemical pathology department. PATIENTS: Twenty patients with a new diagnosis of phaeochromocytoma. RESULTS: The classic, episodic adrenergic symptoms traditionally associated with phaeochromocytoma were absent in 9 of the 20 patients (45%). "Atypical" phaeochromocytoma presented as a mass on computed tomography imaging (6 patients, 30%), "phaeochromocytoma crisis" (4 patients, 20%) or family screening (1 patient, 5%). Excessive adrenaline production was found in 11 patients (55%) and six (30%) had predominantly adrenaline-secreting tumours. The urinary noradrenaline:dihydroxyphenylglycol ratio was raised in all nine patients with predominantly noradrenaline-secreting tumours but was not raised in nine out of ten patients with adrenaline-secreting phaeochromocytoma. Adrenaline excretion was significantly correlated with tumour size (r = 0.8; P less than 0.05). CONCLUSIONS: Advances in diagnostic technology, particularly specific adrenaline assays and computed tomography, have made possible the early diagnosis of patients with phaeochromocytoma presenting in ways previously thought to be uncommon. All patients with adrenal masses noted incidentally on CT scan should be investigated for phaeochromocytoma. Adrenaline-secreting tumours are common and both noradrenaline and adrenaline should be assayed in all patients investigated for phaeochromocytoma.     

Lipid and lipoprotein metabolism in familial combined hyperlipidaemia during treatment of sporadic phaeochromocytoma: a case study.

Lipid metabolism was evaluated during management of phaeochromocytoma in a 41 year old non-obese post-menopausal women with familial combined hyperlipidaemia. The main effect of the excess catecholamine secretion on lipid metabolism was increased lipolytic activity, lower serum triglyceride and increased HDL cholesterol concentrations, compared with findings following removal of the tumour. Before removal of the tumour, the use of beta blockers alone led to marked deterioration of the hyperlipidaemic state, and combined alpha and beta blockade additionally led to a marked reduction in fat oxidation and lipoprotein lipase activity. Overactivity of the adrenergic system leads to changes in lipid metabolism in phaeochromocytoma. Treatment of the phaeochromocytoma may lead to worsening of hyperlipidaemia pre-existing in such individuals.