Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome caused by germline mutations in the VHL tumor-suppressor gene. Central nervous system (CNS) and retinal hemangioblastomas are highly vascular tumors that are hallmarks of the disease. These tumors overexpress vascular endothelial growth factor (VEGF) and represent a potential target for anti-angiogenic drugs. We ...

Serum erythropoietin (EPO) is often used to differentiate primary polycythemia or polycythemia vera (PV) from secondary polycythemia. The current major criteria for diagnosis of PV are high hemoglobin (Hb) level, > 18.5 g/dL for males, > 16.5 g/dL for females and the presence of JAK2 gene mutation while panmyelosis of the bone marrow, and low EPO level are minor criteria. Herein, I reported a 6...

Polycythemia vera is a clonal disorder arising in a multipotent hematopoietic progenitor cell that causes the accumulation of morphologically normal red cells, white cells, platelets, and their progenitors in the absence of a definable stimulus and to the exclusion of nonclonal hematopoiesis.1,2 First described in 1892,3 polycythemia vera is not a new disease and while uncommon, with an inciden...

A rare clinical observation of advanced myeloid sarcoma developed through blast transformation post-polycythemia vera myelofibrosis as extramedullary manifestation acute leukemia affecting larynx, laryngopharynx, trachea, soft tissues the neck, pleura, and skeletal bones is presented.

When A strain mice are placed in parabiotic union with (A x C57Bl/1)F(1) hybrid partners, the parental strain partners are polycythemic and the hybrids anemic from the 5th through the 16th parabiosis days. All hybrids develop clinical intoxication between the 7th and the 12th days, and no pairs survive to 1 month. Long-term survival of parabiotic pairs can be achieved if lethally irradiated or ...

Our knowledge of the genetic basis of these disorders began in 2005, when a unique base substitution in JAK2, the gene encoding Janus kinase 2,was found inpatientswith polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The background of our investigations was the previous finding that copy-neutral loss of heterozygosity of chromosome 9p (9pLOH) is the most common chromosom...

The authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evidence for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently described von Hippel-Lindau (VHL) mutation. By stopping iron therapy there was no more requirements for phlebotomy in this patient.

The cDNA for polycythemia rubra vera 1 (PRV-1), a novel hematopoietic receptor, was recently cloned by virtue of its overexpression in patients with polycythemia vera. PRV-1 is a member of the uPAR/CD59/Ly6 family of cell surface receptors, which share a common cysteine-rich domain and are tethered to the cell surface via a glycosylphosphatidylinositol (GPI) link. We have determined the intron-...

The fact that cobalt administered daily in small amounts either orally or parenterally will produce a polycythemia is now well established. The polycythemia has been produced in a number of species of animals, including the rat, mouse, rabbit, dog, duck, and frog, and is characterized by an increase in the erythrocyte count and hemoglobin and hematocrit values without any significant alteration...