1/5. von hippel-lindau disease--a rare disease important to recognize.INTRODUCTION: von hippel-lindau disease (VHL) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the VHL tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. patients are at risk of developing cerebellar, spinal and retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, pancreatic and renal cysts, and epididymal cystadenoma. The most common causes of death from VHL are metastases from renal cell carcinoma and neurological complications from cerebellar hemangioblastomas. Molecular analysis of the VHL gene is clinically available and indicated in patients with known or suspected VHL. CASE REPORT: A 19-year-old woman was surgically treated for cerebellar hemangioblastoma in 1998 and for renal cell carcinoma of the right side in 2002. Familial VHL was subsequently diagnosed as the patient's mother was found to be affected with bilateral polycystic kidney disease with chronic renal failure as well as hemangioblastoma of the retina and medulla oblongata. The mother underwent surgery for bilateral renal cell carcinoma in 2003. CONCLUSION: The multitude of VHL-associated tumors and intra-familial variability in clinical expressivity render early diagnosis of VHL difficult. We therefore shortly illustrate the spectrum of clinical phenotypes and the VHL screening and surveillance guidelines.- - - - - - - - - - ranking = 1keywords = neuroendocrine (Clic here for more details about this article) |
2/5. Ovarian primary neuroendocrine carcinoma of non-small cell type: report of an extremely rare neoplasm.paraffin block sections of a uterus and ovarian mass from a 31 year old female were sent for second opinion to the pathology Laboratory of Aga Khan University. Histologic examination and immunohistochemical features gave a diagnosis of primary neuroendocrine carcinoma of non-small cell type admixed with benign mucinous cystadenoma. This is a rare tumour with only eight being reported in literature.- - - - - - - - - - ranking = 5keywords = neuroendocrine (Clic here for more details about this article) |
3/5. pheochromocytoma presenting as heart failure.pheochromocytoma is a rare neuroendocrine tumor that secretes high levels of catecholamines and usually causes paroxysmal or sustained hypertension. Various forms of myocardial damage have also been reported, including cardiomyopathy, myocardial infarction, arrhythmias, and angina. When patients present with severe unexplained heart failure, exploring all causes for the source of cardiomyopathy is essential, especially if the cause is reversible. The authors describe the case of a young man who presented to the hospital with acute heart failure who was later diagnosed with a pheochromocytoma.- - - - - - - - - - ranking = 1keywords = neuroendocrine (Clic here for more details about this article) |
4/5. Perinuclear dot-like cytokeratin 20 staining in small cell neuroendocrine carcinoma of the ovary (pulmonary-type).Primary ovarian small cell carcinomas are rare tumors that are subclassified into the hypercalcemic (HT) and the pulmonary type (PT), and each tumor type has different clinicopathologic characteristics. However, overlapping morphologic features can make the distinction between these lesions difficult. The PT small cell carcinoma is very rare, with only one series and a few case reports published. The authors report two additional cases of this entity and also report for the first time the immunohistochemical finding of perinuclear dot-like staining with cytokeratin 20. This staining pattern has been reported only for Merkel cell carcinoma and salivary gland small cell carcinoma. The authors suggest that the punctate CK20 staining is a useful tool in the diagnostic distinction of PT small cell carcinoma from HT small cell carcinoma, from other primary ovarian tumors such as granulosa cell tumors, and from metastatic neuroendocrine tumors originating at primary sites such as the lung. Since the authors' conclusions are based on two cases of this rare entity, additional cases will need to be studied in the future.- - - - - - - - - - ranking = 5keywords = neuroendocrine (Clic here for more details about this article) |
5/5. Merkel cell carcinoma -- a rarity in the urogenital tract.BACKGROUND: Merkel cell carcinoma -- a rare, aggressive cancer of the skin integument - is being increasingly diagnosed but represents an absolute rarity in the urogenital tract. CASE REPORT: We report on a 70-year-old man who was referred to us with suspected testicular cancer. The pathology report revealed a metastasized Merkel cell carcinoma. Fulminant disease progression under chemo-therapy (regimen as for small cell lung cancer) resulted in death 5 months later. CONCLUSION: The patient described is considered to be the first to develop testicular metastasis derived from Merkel cell carcinoma. Besides neuroendocrine and epithelial antigen tests, somatostatin receptor scintigraphy is a helpful diagnostic tool. New receptor-associated therapies may allow more effective and less toxic treatment modalities in the mostly elderly or immune deficient patients.- - - - - - - - - - ranking = 1keywords = neuroendocrine (Clic here for more details about this article) |