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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. 56