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del(9q) solely

Written1998-02Franck Vigué
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

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ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1021
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)  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. – Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease AML mainly; rarely observed in myelodysplastic syndroms (MDS) or myeloproliferative disorders; biphenotypic T-lymphoid / myeloid leukemias cases have also been described
Phenotype / cell stem origin AML: 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 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
Additional anomalies on 31 reviewed cases of AML 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 AML, 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.


Interstitial 9q deletion in T-lymphoid/myeloid biphenotypic leukaemia.
Akashi K, Shibuya T, Harada M, Oogami A, Teshima T, Takamatsu Y, Kikuchi M, Niho Y
British journal of haematology. 1992 ; 80 (2) : 172-177.
PMID 1550772
Interstitial 9q deletion is associated with CD7+ acute leukemia of myeloid and T lymphoid lineage.
Ferrara F, Scognamiglio M, Di Noto R, Schiavone EM, Poggi V, Fiorillo A, Libertini R, Vicari L, Del Vecchio L, Sebastio L
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (12) : 1990-1992.
PMID 8946942
A subtype of the prototypic karyotype in acute myeloid leukemia t (8; 21) (q22; q22), del 9 (q13; q23).
Hossfeld DK, Higi M, Köhler S, Miller A, Zschaber R
Blut. 1980 ; 40 (1) : 27-32.
PMID 6928108
Cytological features of 9q- deletions in AML.
Hoyle C, Sherrington PD, Hayhoe FG
British journal of haematology. 1987 ; 66 (2) : 277-278.
PMID 3475113
Secondary chromosomal abnormalities in acute leukemias.
Johansson B, Mertens F, Mitelman F
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1994 ; 8 (6) : 953-962.
PMID 8207990
Interstitial 9q deletion (q12q22) in two cases of acute myeloblastic leukemia.
Kao YS, Sartin BW, Van Brunt J, Hew AY Jr
Cancer genetics and cytogenetics. 1986 ; 19 (3-4) : 365-366.
PMID 3455852
Specific minor chromosome deletions in myelodysplastic syndromes: clinical and morphologic correlations.
Kerndrup G, Pedersen B, Bendix-Hansen K
Cancer genetics and cytogenetics. 1987 ; 26 (2) : 227-234.
PMID 3567876
Interstitial 9q- and dyserythropoiesis in acute myeloid leukemia.
Kwong YL
American journal of hematology. 1995 ; 48 (1) : 63-64.
PMID 7832200
Interstitial deletion of the long arm of chromosome 9 as the sole anomaly in acute myeloid leukaemia is associated with dyserythropoiesis.
Kwong YL, Chan TK, Chan LC
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1992 ; 6 (1) : 64-65.
PMID 1736015
Interstitial deletion of 9q in a case of acute myeloid leukemia (FAB M6)
Kwong YL, Ha SY, Liang RH, Wan TS, Chan LC
Cancer genetics and cytogenetics. 1993 ; 66 (1) : 79-80.
PMID 8467482
Interstitial 9q- deletion in a case of acute myeloid leukemia-M2 arising from a granulocytic sarcoma.
Lunde JH, Allen EF
Cancer genetics and cytogenetics. 1994 ; 78 (2) : 239-241.
PMID 7828160
Interstitial 9q- deletions in hematologic malignancies.
Mecucci C, Vermaelen K, Kulling G, Michaux JL, Noens L, Van Hove W, Tricot G, Louwagie A, Van den Berghe H
Cancer genetics and cytogenetics. 1984 ; 12 (4) : 309-319.
PMID 6744226
Acute nonlymphocytic leukemia following lung cancer in a patient with a constitutional supernumerary chromosome.
Minamihisamatsu M, Gregorio JS, Onozawa Y, Ishihara T
Cancer genetics and cytogenetics. 1988 ; 35 (2) : 263-268.
PMID 2846147
6p+ and 9q- in two chromosomally distinct clones occurring in a case of myelodysplastic syndrome evolving to acute nonlymphocytic leukemia.
Ringressi A, Mecucci C, Grossi A, Bernabei PA, Ferrini PR, Van den Berghe H
Cancer genetics and cytogenetics. 1988 ; 35 (2) : 213-221.
PMID 3052797
Fifty-one patients with acute myeloid leukemia and translocation t(8;21)(q22;q22): an additional deletion in 9q is an adverse prognostic factor.
Schoch C, Haase D, Haferlach T, Gudat H, Büchner T, Freund M, Link H, Lengfelder E, Wandt H, Sauerland MC, Löffler H, Fonatsch C
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (8) : 1288-1295.
PMID 8709633
A new case of de novo AML with 9q interstitial deletion as the sole chromosomal abnormality.
Smadja N, Krulik M, de Gramont A, Gonzalez G, Debray CJ
British journal of haematology. 1987 ; 67 (4) : 494-495.
PMID 3480756
Involvement of bands 9q21-q22 in five cases of acute nonlymphocytic leukemia.
Sreekantaiah C, Baer MR, Preisler HD, Sandberg AA
Cancer genetics and cytogenetics. 1989 ; 39 (1) : 55-64.
PMID 2731148


This paper should be referenced as such :
Viguié, F
del(9q) solely
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):55-56.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes RARA

Translocations implicated (Data extracted from papers in the Atlas)

 del(9q) solely

External links

Mitelman databasedel(9q)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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