del(9q) solely

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del(9q) solely

Identity

Note	del(9q) as the sole abnormality must be distinguished from syndromes where it is associated with other chromosome rearrangements; in particular, there is frequent association with LAM2 expressing t(8 ;21)(q22;q22), and, also, with t(15;17)(q24;q21); we herein describe del(9q) as the sole anomaly, when not otherwise specified


	del(9q) G- banding - Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap Cytogenetics at theWaisman Center (left and middle) and Jean-Luc Lai (right)

Clinics and Pathology

Disease	ANLL mainly; rarely observed in myelodysplastic syndroms (MDS) or myeloproliferative disorders; biphenotypic T-lymphoid / myeloid leukemias cases have also been described
Phenotype / cell stem origin	ANLL: M1, M2, M4, M6 FAB subtypes; pluripotent stem cell probably involved; there is a trilineage myelodysplasia; six patients (4 M1, 1 M2 and 1 T-ALL) from two reports have been described with del(9q) and CD34+, CD7+, T lymphoid / myeloid biphenotypic leukemia.
Epidemiology	represented; adults and children may be affected
Cytology	frequent sideroblasts; leukemic blasts are agranular, with large vacuoles on Giemsa staining and localized positivity for myeloperoxydase (MPO); giant MPO positive granules are described, corresponding to =AB pseudo-Chediak-Higashi =BB granules; most blast cells are CD34 positive
Prognosis	when del(9q) is the unique chromosome abnormality the prognosis, depending on AML subtype, is variable; (del(9q) as a secondary anomaly in t(8;21) has no prognostic consequence for some workers and is a factor of worse prognosis for others)

Cytogenetics

Cytogenetics Morphological	interstitial deletion of chromosome 9 long arm, called del(9q) or 9q-, involving a variable chromosome segment; the region 9q21-22 seems constantly involved
Cytogenetics Molecular	this constantly deleted region has not yet been more precisely defined and it is not known whether deletion of one or more critical gene(s) are be involved. Thus there are presently no 9q molecular probes availaible to assess 9q deletion
Probes	whole chromosome 9 painting, to exclude 9q translocations
Additional anomalies	on 31 reviewed cases of ANLL with del(9q) as a primary change, none had additional anomalies del(9q) as a secondary anomaly: - association with t(8 ;21) represents the majority of cases; t(8 ;21) occurs in 5 to 10 % of patients with ANLL, and its association with del(9q) is the second more frequent, after the association with loss of one sex chromosome; it represents approximatly 10-15 % of cases - association with t(15 ;17), in promyelocytic leukemia, has also seldom (1%) been observed - in these two syndromes, del(9q) is usually not present at diagnosis but appears as an additional change at relapse - del(9q) has never been described in association with other recurrent primary changes
Variants	unbalanced translocations involving 9q may, in a way, be considered as del(9q) variants.

Genes involved and Proteins

Note	genes involved are unknown; there is probable deletion of one or several tumor suppressor gene(s) involved in the progression of the disease.

External links

Other database	del(9q) solely	Mitelman database (CGAP - NCBI)

Bibliography

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Contributor(s)

Written	02-1998	Franck Viguié

This paper should be referenced as such :

Viguié F . del(9q) solely. Atlas Genet Cytogenet Oncol Haematol. February 1998 .
URL : http://AtlasGeneticsOncology.org/Anomalies/del9q.html

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indexed on : Sat Jul 3 11:53:14 CEST 2010

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