41 research outputs found
FISH and mutational screening of the ABL, SYK and JAK tirosine kinase family genes in BCR-ABL1 negative and V617FJAK2 negative chronic myeloproliferative neoplasms (CMPNs)
ÂżExisten más mutaciones en JAK2 en pacientes con SĂndromes Mieloproliferativos CrĂłnicos BCR-ABL negativos?
Incidencia de la sobreexpresiĂłn de PDGFRA en una serie de 69 pacientes con sĂndrome hipereosinofĂlico
Análisis mediante dHPLC de la familia III de las RTKs en neoplasias mieloproliferativas crónicas BCR-ABL1 negativas
FISH screening of Receptor- and Cytoplasmatic Tyrosine Kinase genes in BCR-ABL1 negative and JAK2V617F negative chronic myeloproliferative neoplasms (CMPNs)
Análisis de la expresión diferencial de distintos transcritos de PDGFRA en neoplasias hematológicas con eosinofilia
Análisis de los genes C-CBL, CBL-B y CBL-C em neoplasias mieloproliferativas crónicas BCR-ABL1 y V617FJAK2 negativas
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR-ABL1 negative and V617F negative chronic myeloproliferative neoplasms (CMPNs) revealed by a comprehensive screening of 17 tyrosine kinase coding genes
BCR/ABL1-negative chronic myeloproliferative neoplasms (CMPNs) are a heterogeneous group of clonal hematological malignancies. Over recent years, some genetic events in tyrosine kinase (TK) genes have been described as causal events of these diseases. To identify new genetic aberrations underlying these diseases, we used denaturing high performance liquid chromatography and fluorescence in situ hybridization (FISH) to analyze 17 genes from two receptor-TK families (III and IV) and from three cytoplasmic-TK families (Syk, Abl, and Jak) on samples from 44 BCR/ABL1-negative and JAK2(V617F)-negative CMPN patients with different clinical phenotypes. Although screening by FISH did not reveal novel chromosomal aberrations, several sequence changes were detected. None of them were frequent events, but we identified a new potential activating mutation in the FERM domain of JAK2(R340Q). None of the germline JAK2(V617F) single-nucleotide polymorphisms detected differed in distribution between patients and control subjects. In summary, data presented here show that these genes are not frequently mutated or rearranged in CMPNs, suggesting that molecular events causing these disorders must be located in other genes