Duodenal neuroendocrine tumors (NETs) are rare tumors, consisting of five different types of tumors. In many cases, they may be asymptomatic, leading to delay in diagnosis. Clinical symptoms are related to local tumor growth and mucosal ulceration. We report a 38-year old man with duodenal gangliocytic paraganglioma causing overt upper gastrointestinal bleeding and anemia. We describe specific clinical and histopathological features of the tumor, and review the diagnostic and therapeutic strategy. Gangliocytic paragangliomas are regarded as benign tumors. However, the disease recurrence and the malignant potential of the tumor have also been reported.
Heterozygosity for loss-of-function alleles of the genes encoding the four subunits of succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD), as well as the SDHAF2 assembly factor predispose affected individuals to pheochromocytoma and paraganglioma (PPGL), two rare neuroendocrine tumors that arise from neural crest-derived paraganglia. Tumorigenesis results from loss of the remaining functional SDHx gene copy, leading to a cell with no functional SDH and a defective tricarboxylic acid (TCA) cycle. It is believed that the subsequent accumulation of succinate competitively inhibits multiple dioxygenase enzymes that normally suppress hypoxic signaling and demethylate histones and DNA, ultimately leading to increased expression of genes involved in angiogenesis and cell proliferation.
We report FDG PET/CT findings of fumarate hydratase-deficient renal cell carcinoma coincidence with para-aortic paraganglioma in a 27-year-old man. He presented with painless gross hematuria for 3 days. CT identified an enhancing lesion in the left kidney, suggestive of a tumor.
Pheochromocytoma is rare in clinical practice, with patients typically presenting with headache, high blood pressure and sweating. Patients who develop a pheochromocytoma crisis are particularly rare. This report describes the case of a patient in a pheochromocytoma crisis who presented with severe cardiogenic shock, acute respiratory failure, and acute coronary syndrome.
Université Mohammed V de Rabat, Avenue des Nations Unies, Agdal, Rabat Maroc, B.P:8007. N.U., Morocco; Department of Vascular Surgery, Centre Hospitalier Universitaire IBN SINA, Avenue Bettouga, Rabat 10000, Morocco.
Introduction And Importance: Cervical paragangliomas of the vagus nerve are tumors, of wich the nature and location make them extremely rare, representing only 0.012 % of cervical tumors.
Case Presentation: This article reports the case of a 64 year old patient, consulting for a latero-cervical mass associated with dysphonia, dysphagia, and repeated vagal syncopes, evolving for 10 months.
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline pathogenic/likely pathogenic (P/LP) variants in the fumarate hydratase (FH) gene on chromosome 1q42.3, encoding the mitochondrial enzyme responsible for the conversion of fumarate to malate in the Krebs cycle.
