Your browser doesn't support javascript.
loading
Cytogenetics, JAK2 and MPL mutations in polycythemia vera, primary myelofibrosis and essential thrombocythemia
Santos, Leonardo Caires dos; Ribeiro, Juliana Corrêa da Costa; Silva, Neusa Pereira; Cerutti, Janete; Silva, Maria Regina Regis da; Chauffaille, Maria de Lourdes Lopes Ferrari.
  • Santos, Leonardo Caires dos; Universidade Federal de São Paulo. Hematology Department. São Paulo. BR
  • Ribeiro, Juliana Corrêa da Costa; Universidade Federal de São Paulo. Hematology Department. São Paulo. BR
  • Silva, Neusa Pereira; Universidade Federal de São Paulo. Rheumatology Department. São Paulo. BR
  • Cerutti, Janete; Universidade Federal de São Paulo. Genetics Department. São Paulo. BR
  • Silva, Maria Regina Regis da; Universidade Federal de São Paulo. Hematology Department. São Paulo. BR
  • Chauffaille, Maria de Lourdes Lopes Ferrari; Universidade Federal de São Paulo. Hematology Department. São Paulo. BR
Rev. bras. hematol. hemoter ; 33(6): 417-424, Dec. 2011. ilus, tab
Artículo en Inglés | LILACS | ID: lil-611377
ABSTRACT

BACKGROUND:

The detection of molecular and cytogenetic alterations is important for the diagnosis, prognosis and classification of myeloproliferative neoplasms.

OBJECTIVE:

The aim of this study was to detect the following mutations JAK2 V617F, JAK2 exon 12 and MPL W515K/L, besides chromosomal abnormalities. Furthermore, molecular and cytogenetic alterations were correlated with the leukocyte and platelet counts, hemoglobin levels and age in all patients and with the degree of fibrosis in primary myelofibrosis cases.

METHODS:

Twenty cases of polycythemia vera, 17 of essential thrombocythemia and 21 of primary myelofibrosis were selected in the Hematology Department of the Universidade Federal de São Paulo (UNIFESP) between February 2008 and December 2009. The JAK2 V617F, JAK2 exon 12 mutations, MPL W515K and MPL W515L mutations were investigated by real-time PCR and direct sequencing. G-band karyotyping and fluorescence in situ hybridization were used to detect chromosomal abnormalities.

RESULTS:

Chromosomal abnormalities were observed only in polycythemia vera (11.8 percent) and primary myelofibrosis cases (17.6 percent), without correlation to clinical data. Chromosomal abnormalities were not detected by fluorescence in situ hybridization. The JAK2 V617F mutation was observed in polycythemia vera (90 percent), primary myelofibrosis (42.8 percent) and essential thrombocythemia (47 percent). Patients with JAK2 V617F-negative polycythemia vera had lower platelet and leukocyte counts compared to V617F-positive polycythemia vera (p-value = 0.0001 and p-value = 0.023, respectively). JAK2 V617F-positive and MPL W515L-positive primary myelofibrosis cases had a higher degree of fibrosis than V617F-negative cases (p-value = 0.022). JAK2 exon 12 mutations were not detected in polycythemia vera patients. The MPL W515L mutation was observed in one case of primary myelofibrosis and in one of essential thrombocythemia. The MPL W515K mutation was not ...
Asunto(s)


Texto completo: Disponible Índice: LILACS (Américas) Asunto principal: Policitemia Vera / Análisis Citogenético / Trombocitemia Esencial / Cariotipificación / Biología Molecular / Trastornos Mieloproliferativos Límite: Humanos Idioma: Inglés Revista: Rev. bras. hematol. hemoter Asunto de la revista: Hematología Año: 2011 Tipo del documento: Artículo / Documento de proyecto País de afiliación: Brasil Institución/País de afiliación: Universidade Federal de São Paulo/BR

Similares

MEDLINE

...
LILACS

LIS


Texto completo: Disponible Índice: LILACS (Américas) Asunto principal: Policitemia Vera / Análisis Citogenético / Trombocitemia Esencial / Cariotipificación / Biología Molecular / Trastornos Mieloproliferativos Límite: Humanos Idioma: Inglés Revista: Rev. bras. hematol. hemoter Asunto de la revista: Hematología Año: 2011 Tipo del documento: Artículo / Documento de proyecto País de afiliación: Brasil Institución/País de afiliación: Universidade Federal de São Paulo/BR