Ruiz-Delgado GJ, Lutz-Presno J, Macías-Gallardo J, Ruiz-Arguelles GJ

Idioma: Ingles.
Referencias bibliográficas: 8
Paginas: 138-139
Archivo PDF: 63.73 Kb.

RESUMEN

Se describe el caso de un paciente con una neoplasia mieloproliferativa compatible con mielofibrosis primaria, con la mutación coexistente de MPL515 y JAK2V617F. Se hace una breve revisión y discusión de la bibliografía.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Tefferi A. Myelofibrosis with myeloid metaplasia. N Engl J Med 2000;342:1255-1265.

2. Wernig G, Mercher T, Okabe, et al. Expression of JAK2V617F causes a polycythemia vera like disease with associated myelofibrosis in a murine bone marrow transplant mode. Blood 2006;107: 4274-4281.

3. Lippert E, Boissinot M, Kralovics R, et al. The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera. Blood 2006;108:1865-1867.

4. Pardanani AD, Levine RL, Lasho T, et al. MPL 515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006;108(10):3472-3476. Epub 2006 Jul 25.

5. Ruiz-Arguelles GJ, Garcés Eisele J, Ortiz López R, et al. Molecular characterization of chronic myeloproliferative neoplasias in Mexico. Hematology 2009;14(5):261-265.

6. Lasho T, Pardanani A, McClure R, et al. Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time. British Journal of Haematology 2006;137:683-687.

7. Levine RL, Belisle C, Wadleigh M, et al. X-inactivation based clonality analysis and quantitative JAK2V617F assessment reveals a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F negative ET and MMM patients with clonal hematopoiesis. Blood 2006;107:4139-4141.

8. Scott LM, Scott MA, Campbell PJ, et al. Progenitors homozygous for the V617FJAK2 mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006;108: 2435-2437.