Written | 2006-09 | Ulrike Bacher, Claudia Haferlach |
Department for Internal Medicine III, Klinikum Grosshadern, Ludwig-Maximilians-University, Marchioninistr. 15, D-81377 Munich, Germany |
Identity |
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
ICD-Morpho | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
Atlas_Id | 1418 |
![]() | |
+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. | |
Case Report | Unbalanced rearrangement der(9;18)(p10;q10) in a patient with polycythemia vera |
Case Report | Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myeloproliferative neoplasm. Case 0001M. |
Case Report | Unbalanced rearrangement, der(9;18)(p10;q10) in a patient with myelodysplastic syndrome. Case 0002M. |
Case Report | Unbalanced rearrangement der(9;18)(p10;q10) and JAK2 V617F mutation in a patient with AML following post-polycythemic myelofibrosis |
Bibliography |
Karyotypic abnormalities in myelofibrosis following polycythemia vera. |
Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, Laï 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 |
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 |
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 |
Citation |
This paper should be referenced as such : |
Bacher, U ; Haferlach, C |
der(9;18)(p10;q10) |
Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):34-35. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/der918p10q10ID1418.html |
Translocations implicated (Data extracted from papers in the Atlas) |
der(9;18)(p10;q10) | |
External links |
Mitelman database | der(9;18)(p10;q10) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9975/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:24:34 CET 2020 |
For comments and suggestions or contributions, please contact us