Pheochromocytoma: An update on genetics and management
ABSTRACT Pheochromocytomas (PHEOs) are rare neoplasms that produce catecholamines and usually arise from the adrenal medulla and are considered to be an adrenal paraganglioma (PGL). Closely related tumors of extraadrenal sympathetic and parasympathetic paraganglia are classified as extraadrenal PGLs. Most PHEOs are sporadic, but a significant percentage (approximately 25%) may be found in patients with germline mutations of genes predisposing to the development of von Hippel-Lindau disease, neurofibromatosis 1, multiple endocrine neoplasia type 1 (MEN1) and 2 (MEN2), and the PGL/PHEOs syndrome, based on the described mutations of the genes for succinate dehydrogenase subunit D (SDHD), B (SDHB), and C (SDHC). As one out of four PHEOs turns out to be a hereditary clinical entity, screening for genetic alterations is important, as it provides useful information for a rational diagnostic approach and management. This review discusses the genetics, the pathophysiology of hypertension, the clinical picture, the biochemical and imaging diagnosis, and the preferred therapeutic approach for PGLs/PHEOs. Furthermore, it emphasizes the need for genetic testing in cases with apparently sporadic PHEOs.
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- "NF1 typically presents with café-au-lait spots, multiple neurofibroma, axillary freckling, and ocular Lisch nodules . About 16% of patients with NF1 develop hypertension , either essential hypertension or secondary hypertension due to renovascular disease, coarctation of the abdominal aorta or pheochromocytoma [2,5-8]. In children and young adults with NF1, the most frequent cause of hypertension is renovascular disease, which occurs seven times more frequently than pheochromocytoma . "
ABSTRACT: Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder. The most common vascular abnormality in patients with NF1 is bilateral or unilateral renal artery stenosis.Case report: A 16-year-old boy presented with a headache of 4-year duration and was found to be moderately hypertensive. On physical examination, axillary freckling and multiple cafe-au-lait spots were revealed over the trunk, while numerous small nodules were palpable on the limbs. Biopsy of subcutaneous nodule showed neurofibroma. Lisch nodules were identified on slit-lamp examination and grade I hypertensive retinopathy was present on fundoscopy. Clinical laboratory investigations revealed that renal and liver function tests, blood cells count, urinalysis, serum electrolytes, serum levels of renin and aldosterone, and 24-hour urine levels of catecholamines were all within normal ranges. Abdominal ultrasound and CT were normal. Both kidneys were of normal size. CT angiography showed right renal artery stenosis (>90%) at the ostium. The final diagnosis of NF1 with right renal artery stenosis and secondary hypertension was then made. The patient was treated with Procardin (30 mg/d) and improved with a significant decline in blood pressure. The main outcomes were to control blood pressure without necessarily proceeding with PTRA. We also present a review of the literature. NF1 may present with hypertension due to renal artery stenosis in children. All young patients (<30 year) with hypertension should be clinically screened for secondary causes of hypertension, including NF1, so that renal revascularization can be offered before permanent end organ damage has occurred. First-line management using medication alone could be appropriate, keeping the interventional options for when the patient's condition deteriorates.03/2014; 19(1):17. DOI:10.1186/2047-783X-19-17
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- "Type 2B is relatively uncommon, accounting for about 5 percent of all cases of multiple endocrine neoplasia and reported in approximately 1000 families worldwide in 2001. Men 2B is much less common but also more aggressive and is associated with medullary thyroid cancer (MTC), pheochromocytoma, multiple mucosal neuromas, gangliomatosis of gastrointestinal tract, and a marfanoid habitus, whereas hyperparathyroidism is absent      . "
ABSTRACT: Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.Case Reports in Medicine 10/2012; 2012:491054. DOI:10.1155/2012/491054
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- "Pheochromocytoma are the tumours derived from chromaffin cells that produce and often secrete catecholamines. Highest incidence occurs during the fourth and fifth decade of life and is nearly identical in both the sexes. Pheochromocytoma are usually large and have areas of haemorrhage and necrosis [Figure 4] and may even have fluid-filled levels within them. "
ABSTRACT: To evaluate the efficacy and safety of laparoscopic adrenalectomy in benign adrenal disorders. Since July 2007, twenty patients have undergone laparoscopic adrenalectomy for various benign adrenal disorders at our institution. Every patient underwent contrast enhanced CT-abdomen. Serum corticosteroid levels were conducted in all, and urinary metanephrines, normetanephrines and VMA levels were performed in suspected pheochromocytoma. All the patients underwent laparoscopic adrenalectomy via the transperitoneal approach. The patients were in the age range of 18-57 years, eleven males and nine females, seven right, eleven left, two bilateral. The mean operative time was 150 minutes (120-180), mean hospital stay four days (3-5), mean intraoperative blood loss 150 ml and mean post-operative analgesic need was for 36 (24-72) hours. One out of twenty-two laparoscopic operations had to be converted into open adrenalectomy due to intra-operative complications. Laparoscopic adrenalectomy is a safe, effective and useful procedure without any major post-operative complication and is the gold standard for all benign adrenal disorders.Journal of Minimal Access Surgery 10/2010; 6(4):100-5. DOI:10.4103/0972-9941.72595 · 0.81 Impact Factor