Download Leukaemia Section del(9q) solely Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Mini Review
del(9q) solely
Franck Viguié
Laboratoire de Cytogénétique - Service d'Hématologie Biologique, Hôpital Hôtel-Dieu, 75181 Paris Cedex
04, France
Published in Atlas Database: February 1998
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/del9q.html
DOI: 10.4267/2042/37415
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
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).
del(9q) and CD34+, CD7+, T lymphoid / myeloid
biphenotypic leukemia.
Epidemiology
0 to 3% of ANLL cases, depending on series; both
sexes equally 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).
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.
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 TALL) from two reports have been described with
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2)
55
del(9q) solely
Viguié F
Kao YS, Sartin BW, Van Brunt J, Hew AY Jr. Interstitial 9q
deletion (q12q22) in two cases of acute myeloblastic leukemia.
Cancer Genet Cytogenet 1986 Jan 15;19(3-4):365-6.
Cytogenetics
Cytogenetics, morphological
Hoyle C, Sherrington PD, Hayhoe FG. Cytological features of
9q- deletions in AML. Br J Haematol 1987 Jun;66(2):277-8.
Interstitial deletion of chromosome 9 long arm, called
del(9q) or 9q-, involving a variable chromosome
segment; the region 9q21-22 seems constantly
involved.
Kerndrup G, Pedersen B, Bendix-Hansen K. Specific minor
chromosome deletions in myelodysplastic syndromes: clinical
and morphologic correlations. Cancer Genet Cytogenet 1987
Jun;26(2):227-34.
Cytogenetics, molecular
Smadja N, Krulik M, de Gramont A, Gonzalez G, Debray CJ. A
new case of de novo AML with 9q interstitial deletion as the
sole chromosomal abnormality. Br J Haematol 1987
Dec;67(4):494-5.
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 involved. Thus there
are presently no 9q molecular probes availaible to
assess 9q deletion.
Minamihisamatsu M, Gregorio JS, Onozawa Y, Ishihara T.
Acute nonlymphocytic leukemia following lung cancer in a
patient with a constitutional supernumerary chromosome.
Cancer Genet Cytogenet 1988 Oct 15;35(2):263-8.
Probes
Ringressi A, Mecucci C, Grossi A, Bernabei PA, Ferrini PR,
Van den Berghe H. 6p+ and 9q- in two chromosomally distinct
clones occurring in a case of myelodysplastic syndrome
evolving to acute nonlymphocytic leukemia. Cancer Genet
Cytogenet 1988 Oct 15;35(2):213-21. (Review).
Whole chromosome 9 painting, to exclude 9q
translocations.
Additional anomalies
Sreekantaiah C, Baer MR, Preisler HD, Sandberg AA.
Involvement of bands 9q21-q22 in five cases of acute
nonlymphocytic leukemia. Cancer Genet Cytogenet 1989
May;39(1):55-64.
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
leukaemia, 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.
Akashi K, Shibuya T, Harada M, Oogami A, Teshima T,
Takamatsu Y, Kikuchi M, Niho Y. Interstitial 9q deletion in Tlymphoid/myeloid biphenotypic leukaemia. Br J Haematol 1992
Feb;80(2):172-7.
Kwong YL, Chan TK, Chan LC. Interstitial deletion of the long
arm of chromosome 9 as the sole anomaly in acute myeloid
leukaemia is associated with dyserythropoiesis. Leukemia
1992 Jan;6(1):64-5.
Kwong YL, Ha SY, Liang RH, Wan TS, Chan LC. Interstitial
deletion of 9q in a case of acute myeloid leukemia. Cancer
Genet Cytogenet 1993 Mar;66(1):79-80.
Johansson B, Mertens F, Mitelman F. Secondary chromosomal
abnormalities in acute leukemias. Leukemia 1994
Jun;8(6):953-62.
Lunde JH, Allen EF. Interstitial 9q- deletion in a case of acute
myeloid leukemia-M2 arising from a granulocytic sarcoma.
Cancer Genet Cytogenet 1994 Dec;78(2):239-41.
Kwong YL. Interstitial 9q- and dyserythropoiesis in acute
myeloid leukemia. Am J Hematol 1995 Jan;48(1):63-4.
Ferrara F, Scognamiglio M, Di Noto R, Schiavone EM, Poggi
V, Fiorillo A, Libertini R, Vicari L, Del Vecchio L, Sebastio L.
Interstitial 9q deletion is associated with CD7+ acute leukemia
of myeloid and T lymphoid lineage. Leukemia 1996
Dec;10(12):1990-2.
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.
Schoch C, Haase D, Haferlach T, Gudat H, Buchner T, Freund
M, Link H, Lengfelder E, Wandt H, Sauerland MC, Löffler H,
Fonatsch C. Fifty-one patients with acute myeloid leukemia
and translocation t(8;21)(q22;q22): an additional deletion in 9q
is an adverse prognostic factor. Leukemia 1996
Aug;10(8):1288-95.
References
Hossfeld DK, Higi M, Köhler S, Miller A, Zschaber R. A subtype
of the prototypic karyotype in acute myeloid leukemia t (8;
21)(q22; q22), del 9 (q13; q23). Blut 1980 Jan;40(1):27-32.
This article should be referenced as such:
Mecucci C, Vermaelen K, Kulling G, Michaux JL, Noens L, Van
Hove W, Tricot G, Louwagie A, Van den Berghe H. Interstitial
9q- deletions in hematologic malignancies. Cancer Genet
Cytogenet 1984 Aug;12(4):309-19.
Atlas Genet Cytogenet Oncol Haematol. 1998;2(2)
Viguié F. del(9q) solely. Atlas Genet Cytogenet Oncol
Haematol.1998;2(2):55-56.
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