Author/Authors :
Azuma، نويسنده , , Taichi and Yamanouchi، نويسنده , , Jun and Inoue، نويسنده , , Katsuji and Kohno، نويسنده , , Masashi and Narumi، نويسنده , , Hiroshi and Fujiwara، نويسنده , , Hiroshi and Yakushijin، نويسنده , , Yoshihiro and Hato، نويسنده , , Takaaki and Yasukawa، نويسنده , , Masaki، نويسنده ,
Abstract :
This study reports the association of the chromosomal abnormality derivative (1;18)(q10;q10) with essential thrombocythemia (ET) occurring in a 75-year-old woman. Allele-specific polymerase chain reaction also revealed a V617F mutation in the Janus Kinase 2 gene (JAK2) in the platelet compartment in this patient. The der(1;18)(q10;q10) abnormality has previously been reported in two cases of myeloid disorders. The etiological implications for ET of this combination of chromosomal abnormality and JAK2 mutation still remain elusive. This is a novel report of derivative (1;18)(q10;q10) abnormality in ET.
