losartan-potassium and Abdominal-Neoplasms

We report the case of a 22-year-old woman with onset of erythrocytosis at the age of 9 years. Endocrinological and radiological examinations revealed an elevated catecholamine level and the presence of multiple abdominal tumors. After the removal of the tumors, the catecholamine level normalized, whereas erythropoietin remained at the same level and erythrocytosis persisted. The tumor lysate contained considerable amounts of catecholamine but not erythropoietin. Moreover, no erythropoietin mRNA was detected in the tumor by in situ hybridization. These data suggest that this paraganglioma did not produce erythropoietin. A review of the literature showed the existence of patients with early-onset erythrocytosis complicated with paraganglioma, whose erythrocytosis was not relieved even after the resection of paraganglioma.

Topics: Abdominal Neoplasms; Adult; Chronic Disease; Cyclic AMP; Epinephrine; Erythropoietin; Female; Humans; Norepinephrine; Paraganglioma; Polycythemia

Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who carries a newly discovered HIF2A mutation. Congenital polycythemias have diverse etiologies, including germline mutations in the oxygen-sensing pathway. These include von Hippel-Lindau (Chuvash polycythemia), prolyl hydroxylase domain-containing protein-2, and hypoxia-inducible factor-2α (HIF-2α). Somatic gain-of-function mutations in the gene encoding HIF-2α were reported in patients with paraganglioma and polycythemia and have been found exclusively in female patients. Through sequencing of the HIF2A using DNA from paraganglioma in 15-year-old male patient, we identified a novel mutation of HIF2A: a heterozygous C to A substitution at base 1589 in exon 12 of HIF2A. The mutation was not found in germline DNA from leukocytes. The C1589A mutations resulted in substitution of alanine 530 in the HIF-2α protein with glutamic acid. This mutation is undoubtedly associated with increased HIF-2α activity and increased protein half-life, because it affects the vicinity of the prolyl hydroxylase target residue, proline 531. To our knowledge, this is the first report describing Pacak-Zhuang syndrome with somatic gain-of-function mutation in HIF2A in a male patient. Congenital polycythemia of unknown origin should raise suspicion for the novel disorder Pacak-Zhuang syndrome, even in male patients.

Topics: Abdominal Neoplasms; Adolescent; Basic Helix-Loop-Helix Transcription Factors; Diagnosis, Differential; Diagnostic Imaging; Erythrocyte Count; Erythropoietin; Follow-Up Studies; Genetic Carrier Screening; Hemoglobinometry; Humans; Male; Neoplasms, Multiple Primary; Norepinephrine; Paraganglioma; Polycythemia; Syndrome

Topics: Abdominal Neoplasms; Adolescent; Adult; Basic Helix-Loop-Helix Transcription Factors; Child; DNA Mutational Analysis; Erythropoietin; Exudates and Transudates; Female; Fibrosis; Fluorescein Angiography; Humans; Male; Optic Disk; Pancreatic Neoplasms; Paraganglioma; Polycythemia; Retinal Neovascularization; Somatostatinoma

Topics: Abdominal Neoplasms; Adolescent; Erythropoietin; Female; Humans; Hypertension, Malignant; Neoplasms, Multiple Primary; Paraganglioma, Extra-Adrenal; Perioperative Care; Polycythemia; Renal Artery Obstruction

Topics: Abdominal Neoplasms; Adult; Erythropoietin; Female; Humans; Neoplasm Recurrence, Local; Pheochromocytoma

Polycythemia is rarely associated with pheochromocytoma. A patient with a 22-year history of malignant pheochromocytoma is presented in whom major complications developed as a result of long-standing polycythemia, apparently due to secretion of erythropoietin by the tumors. Despite attempts to reduce tumor burden by surgery, chemotherapy, and large doses of I-131-metaiodobenzylguanidine, polycythemia persisted. Extensive venous thrombosis developed requiring hospitalization and anticoagulation. Thus, polycythemia itself may be a cause of major morbidity in patients with pheochromocytoma, and prophylactic measures may be warranted. Review of the 130 patients with benign and malignant pheochromocytoma studied since the introduction of I-131-metaiodobenzylguanidine in 1980 revealed another six patients with hematocrits over 50 but only one had a hematocrit greater than 55 and required regular phlebotomy. In contrast, anemia (hematocrit less than 35) due to variety of causes was present in 18 cases.

Topics: Abdominal Neoplasms; Adult; Erythropoietin; Humans; Male; Pheochromocytoma; Polycythemia; Thrombophlebitis; Time Factors

Topics: Abdominal Neoplasms; Adenocarcinoma; Adenoma; Animals; Carcinogens; Carcinoma, Squamous Cell; Carcinoma, Transitional Cell; Erythropoietin; Esters; Female; Injections, Intraperitoneal; Lung Neoplasms; Male; Mediastinal Neoplasms; Methane; Neoplasms, Experimental; Nephrectomy; Pituitary Neoplasms; Rats; Sarcoma; Sex Factors; Sulfonic Acids; Thyroid Neoplasms; Time Factors