del(9q) solely

1998-02-01   Franck Vigué , Franck Vigué 

1.Laboratoire de Cytogenetique - Service d Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

Clinics and Pathology


AML mainly; rarely observed in myelodysplastic syndroms (MDS) ormyeloproliferative disorders; biphenotypic T-lymphoid / myeloid leukemiascases have also been described

Phenotype stem cell origin

AML: M1, M2, M4, M6 FAB subtypes; pluripotentstem cell probably involved; there is a trilineage myelodysplasia; sixpatients (4 M1, 1 M2 and 1 T-ALL) from two reports have been described withdel(9q) and CD34+, CD7+, T lymphoid / myeloid biphenotypic leukemia.


0 to 3% of AML cases, depending on series; both sexes equallyrepresented; adults and children may be affected


frequent sideroblasts; leukemic blasts are agranular,with large vacuoles on Giemsa staining and localized positivity formyeloperoxydase (MPO); giant MPO positive granules are described,corresponding to =AB pseudo-Chediak-Higashi =BB granules; most blast cells areCD34 positive


when del(9q) is the unique chromosome abnormality the prognosis,depending on AML subtype, is variable; (del(9q) as a secondary anomaly int(8;21) has no prognostic consequence for some workers and is a factor ofworse prognosis for others)


Cytogenetics morphological

interstitial deletion of chromosome 9 long arm,called del(9q) or 9q-, involving a variable chromosome segment; the region9q21-22 seems constantly involved

Cytogenetics molecular

this constantly deleted region has not yet been moreprecisely defined and it is not known whether deletion of one or morecritical gene(s) are be involved. Thus there are presently no 9q molecularprobes availaible to assess 9q deletion

Additional anomalies

on 31 reviewed cases of AML with del(9q) as a primarychange, none had additional anomaliesdel(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 AML, and its association with del(9q)is the second more frequent, after the association with loss of one sexchromosome; 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 butappears as an additional change at relapse- del(9q) has never been described in association with other recurrentprimary changes


unbalanced translocations involving 9q may, in a way, be considered as del(9q) variants.

Genes Involved and Proteins

genes involved are unknown; there is probable deletion of one orseveral tumor suppressor gene(s) involved in the progression of thedisease.


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del(9q) as the sole abnormality must be distinguished fromsyndromes where it is associated with other chromosome rearrangements; inparticular, there is frequent association with LAM2 expressingt(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
Atlas Image
del(9q)  del(9q) G- banding - Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap Cytogenetics at theWaisman Center (2 left), Jean-Luc Lai (third left), Adriana Zamecnikova (5 right). Hybridization with whole chromosome 9 (Metasystems. Germany) (A) and Vysis LSI CDKN2A/CEP9 (Abbott molecular, US) probe (B) showing deletion of 9q. u2013 Courtesy Adriana Zamecnikova.


Franck Vigué ; Franck Vigué

del(9q) solely

Atlas Genet Cytogenet Oncol Haematol. 1998-02-01

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