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der(9;18)(p10;q10)

Written2006-09Ulrike Bacher, Claudia Haferlach
Department for Internal Medicine III, Klinikum Grosshadern, Ludwig-Maximilians-University, Marchioninistr. 15, D-81377 Munich, Germany

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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 databaseder(9;18)(p10;q10) [Case List]    der(9;18)(p10;q10) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaseder(9;18)(p10;q10)
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