Derivative (1;18)(q10;q10) in essential thrombocythemia.
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.
Azuma
Taichi
T
First Department of Internal Medicine, Ehime University School of Medicine, Toon, Japan. ataichi@m.ehime-u.ac.jp
Yamanouchi
Jun
J
Inoue
Katsuji
K
Kohno
Masashi
M
Narumi
Hiroshi
H
Fujiwara
Hiroshi
H
Yakushijin
Yoshihiro
Y
Hato
Takaaki
T
Yasukawa
Masaki
M
D000368:Aged; D001853:Bone Marrow / Q000473:pathology; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D013920:Thrombocythemia, Essential / Q000235:genetics*