Atlas of Genetics and Cytogenetics in Oncology and Haematology
der(9;18)(p10;q10)
| Identity |
 | |
| +9,der(9; 18)(p10;q10) (G-banding). | |
| Clinics and Pathology |
| Disease | BCR-ABL negative chronic myeloproliferative disorders (CMPD). |
| Epidemiology | Occasional occurrence: 5 cases of polycythemia vera (PV) and one case of therapy associated AML (t-AML) after ET were reported so far. |
| Clinics | 2/5 PV cases showed conversion of PV to post-polycythemic myelofibrosis. |
| Prognosis | Probably associated with progression or leukemic transformation of the CMPD. |
| Cytogenetics |
| Cytogenetics Morphological | 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)). | |
| Additional anomalies | Sole abnormality in most cases; balanced translocations or complex aberrant karyotypes were reported as additional abnormalities. |
| Genes involved and Proteins |
| 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. |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Gain of 9p in the pathogenesis of polycythemia vera. |
| Chen Z, Notohamiprodjo M, Guan XY, Paietta E, Blackwell S, Stout K, Turner A, Richkind K, Trent JM, Lamb A, Sandberg AA |
| Genes, chromosomes & cancer. 1998 ; 22 (4) : 321-324. |
| PMID 9669670 |
| Karyotypic abnormalities in myelofibrosis following polycythemia vera. |
| Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, LaˆØ JL |
| Cancer genetics and cytogenetics. 2003 ; 140 (2) : 118-123. |
| PMID 12645649 |
| Gain of 9p due to an unbalanced rearrangement der(9;18): a recurrent clonal abnormality in chronic myeloproliferative disorders. |
| Bacher U, Haferlach T, Schoch C |
| Cancer genetics and cytogenetics. 2005 ; 160 (2) : 179-183. |
| PMID 15993276 |
| A gain-of-function mutation of JAK2 in myeloproliferative disorders. |
| Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC |
| The New England journal of medicine. 2005 ; 352 (17) : 1779-1790. |
| PMID 15858187 |
| Contributor(s) |
| Written | 09-2006 | Ulrike Bacher, Claudia Haferlach |
| Department for Internal Medicine III, Klinikum Grosshadern, Ludwig-Maximilians-University, Marchioninistr. 15, D-81377 Munich, Germany |
| Citation |
| This paper should be referenced as such : |
| Bacher U, Haferlach C . der(9;18)(p10;q10). Atlas Genet Cytogenet Oncol Haematol. Septem
ber 2006 . URL : http://AtlasGeneticsOncology.org/Genes/der918p10q10ID1418.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:05:55 2008 |
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