der(9;18)(p10;q10)

2006-09-01 Claudia Haferlach , Ulrike Bacher Affiliation

1.Department for Internal Medicine III, Klinikum Grosshadern, Ludwig-Maximilians-University, Marchioninistr. 15, D-81377 Munich, Germany

BCR-ABL negative chronic myeloproliferative disorders (CMPD).

Occasional occurrence: 5 cases of polycythemia vera (PV) and one case of therapy associated AML (t-AML) after ET were reported so far.

2/5 PV cases showed conversion of PV to post-polycythemic myelofibrosis.

Probably associated with progression or leukemic transformation of the CMPD.

Unbalanced translocation between chromosomes 9 and 18 leading to trisomy of 9p and monosomy of 18p.

+9,der(9;18)(p10;q10) (chromosome painting, WCP#9 (red) + WCP#18 (green)).

Sole abnormality in most cases; balanced translocations or complex aberrant karyotypes were reported as additional abnormalities.

Note

Genes involved are unknown. Gain of 9p might play a role for gain of function of the JAK2 gene on 9p24 which codes for the JAK2 nonreceptor kinase.

Pubmed ID	Last Year	Title	Authors
12645649	2003	Karyotypic abnormalities in myelofibrosis following polycythemia vera.	Andrieux J et al
15993276	2005	Gain of 9p due to an unbalanced rearrangement der(9;18): a recurrent clonal abnormality in chronic myeloproliferative disorders.	Bacher U et al
9669670	1998	Gain of 9p in the pathogenesis of polycythemia vera.	Chen Z et al
15858187	2005	A gain-of-function mutation of JAK2 in myeloproliferative disorders.	Kralovics R et al

+9,der(9; 18)(p10;q10) (G-banding).

Claudia Haferlach ; Ulrike Bacher

der(9;18)(p10;q10)

Atlas Genet Cytogenet Oncol Haematol. 2006-09-01