A novel chromosomal translocation t(3;17)(q29;q11) in a case with polycythemia vera.
We report a novel chromosomal translocation t(3;17)(q29;q11) in a case with polycythemia vera (PV). The present case (38-year-old male) developed the spent phase of PV after a 10 years' clinical course and showed excessive proliferation of myeloid cells in the bone marrow. The karyotype analysis of the bone marrow cells showed chromosomal translocation t(3;17)(q29;q11), and the same aberration was detected in the granulocyte-colony-stimulating-factor-stimulated peripheral blood cells, suggesting the cells with the t(3;17)(q29;q11) showed myeloid differentiation. It is known as well that the retinoic acid receptor gene, which is related with a myeloid disorder, is located in 17q11. Thus, the novel chromosomal translocation could be associated with the pathogenesis of the disorder in this patient.
Adachi
M
M
Department of Internal Medicine (Section 1), Sapporo Medical College, Japan.
Hinoda
Y
Y
Sato
I
I
Makiguchi
Y
Y
Takahashi
T
T
Endo
K
K
Imai
K
K
Yachi
A
A
D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002886:Chromosomes, Human, Pair 17; D002893:Chromosomes, Human, Pair 3; D006098:Granulocytes / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D011087:Polycythemia Vera / Q000235:genetics* / Q000473:pathology; D013163:Splenomegaly; D014178:Translocation, Genetic