der(9;18)(p10;q10)

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

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indexed on : Mon Sep 7 15:06:29 CEST 2020

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