Atlas of Genetics and Cytogenetics in Oncology and Haematology
+9 or trisomy 9
| Identity |
| Note | Occurs in a large spectrum of myeloid and lymphatic malignancies - chronic myeloproliferative disorders (CMPD), acute myeloid leukemias (AML), myelodysplastic syndromes (MDS), acute lymphoblastic leukemias (ALL) of B-lineage and of T-lineage. Strong association to the CMPD and especially to polycythemia vera (PV). |
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| +9 (G-banding) | |
| Clinics and Pathology |
| Disease | Chronic myeloproliferative disorders |
| Epidemiology | All CMPD: approx. 2% of all cases, approx. 10% of all chromosomal aberrant cases. PV: around 7% of all cases, around 16% of all chromosomal aberrant cases. |
| Cytogenetics | One of the most frequent anomalies (with del(20q), +8, and del(13q)) in BCR- ABL negative CMPD, especially in PV and in chronic idiopathic myelofibrosis (CIMF). Additional anomalies: PV: in 50% as sole abnormality, in 50% of all cases most frequently in combination with numerical gain of chromosome 8. |
| Genes | +9 is assumed to represent a gain-of-function mechanism with respect to the JAK2 gene on 9p24 coding for the JAK2 kinase. Additionally, a cooperation of +9 with the V617F mutation of the JAK2 gene is hypothesized. |
| Prognosis | No prognostic impact according to follow-up studies of limited sample sizes. |
| Disease | Acute myeloid leukemia |
| Phenotype / cell stem origin | FAB subtypes M2, M4, M5. |
| Epidemiology | Frequent in combination with other chromosomal changes. Extremely rare as sole abnormality (around 0.1% of all cases). |
| Cytogenetics | Additional anomalies: In combination with other numerical gains (mainly +8) in simple karyotypes or in complex aberrant karyotypes (at least 3 chromosomal abnormalities). |
| Genes | Not known. |
| Prognosis | Intermediate prognosis as sole aberration or as +8,+9 in simple karyotypes. Complex aberrant karyotypes have an inferior prognosis. |
| Disease | Myelodysplastic syndrome |
| Epidemiology | Rare. |
| Cytogenetics | Additional anomalies: Occurrence as sole abnormality or within complex aberrant karyotype. |
| Genes | Not known |
| Prognosis | Intermediate prognosis as sole aberration. Complex aberrant karyotypes have an inferior prognosis. |
| Disease | B-lineage acute lymphoblastic leukemia |
| Epidemiology | Rare in Philadelphia-positive and in Philadelphia-negative B-lineage. |
| Cytogenetics | Additional anomalies: Philadelphia-negative ALL: Occurrence in hyperdiploid karyotypes (equal or more than 47 chromosomes) mostly in combination with other numerical gains. Philadelphia-positive ALL: Rare additional change. |
| Genes | Not known. |
| Prognosis | Philadelphia-negative ALL with high hyperdiploid karyotype (equal or more than 51 chromosomes) shows a good prognosis, gain of chromosome 9 is not typical and prognostic impact of trisomy 9 in this setting unknown. In Philadelphia-positive ALL additional chromosomal anomalies probably enhance the inferior prognosis. |
| Disease | T-lineage acute lymphoblastic leukemia. |
| Epidemiology | Rare, up to 4% in childhood T-ALL. |
| Cytogenetics | Additional anomalies: Occurs as sole or as combined anomaly. |
| Genes | Not known. |
| Prognosis | So far a prognostic impact could not be defined, which also might be due to the low analyzed case numbers. |
| Cytogenetics |
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| +9 (chromosome painting, WCP#9 (red)) | |
| External links |
| Other database | +9 or trisomy 9 | Mitelman database (CGAP - NCBI) |
| Bibliography |
| Numerical chromosome aberrations in human neoplasia. |
| Heim S, Mitelman F |
| Cancer genetics and cytogenetics. 1986 ; 22 (2) : 99-108. |
| PMID 3708552 |
| Karyotypic patterns in chronic myeloproliferative disorders: report on 74 cases and review of the literature. |
| Mertens F, Johansson B, Heim S, Kristoffersson U, Mitelman F |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1991 ; 5 (3) : 214-220. |
| PMID 2013980 |
| Prognostic significance of additional chromosome abnormalities in adult patients with Philadelphia chromosome positive acute lymphoblastic leukaemia. |
| Rieder H, Ludwig WD, Gassmann W, Maurer J, Janssen JW, Gkbuget N, Schwartz S, Thiel E, Lffler H, Bartram CR, Hoelzer D, Fonatsch C |
| British journal of haematology. 1996 ; 95 (4) : 678-691. |
| PMID 8982045 |
| New recurring cytogenetic abnormalities and association of blast cell karyotypes with prognosis in childhood T-cell acute lymphoblastic leukemia: a pediatric oncology group report of 343 cases. |
| Schneider NR, Carroll AJ, Shuster JJ, Pullen DJ, Link MP, Borowitz MJ, Camitta BM, Katz JA, Amylon MD |
| Blood. 2000 ; 96 (7) : 2543-2549. |
| PMID 11001909 |
| Chromosome and molecular abnormalities in myelodysplastic syndromes. |
| Fenaux P |
| International journal of hematology. 2001 ; 73 (4) : 429-437. |
| PMID 11503956 |
| Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected. |
| Najfeld V, Montella L, Scalise A, Fruchtman S |
| British journal of haematology. 2002 ; 119 (2) : 558-566. |
| PMID 12406101 |
| Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected. |
| Najfeld V, Montella L, Scalise A, Fruchtman S |
| British journal of haematology. 2002 ; 119 (2) : 558-566. |
| PMID 12406101 |
| Additional clonal abnormalities in Philadelphia-positive ALL and CML demonstrate a different cytogenetic pattern at diagnosis and follow different pathways at progression. |
| Bacher U, Haferlach T, Hiddemann W, Schnittger S, Kern W, Schoch C |
| Cancer genetics and cytogenetics. 2005 ; 157 (1) : 53-61. |
| PMID 15676148 |
| Conventional cytogenetics of myeloproliferative diseases other than CML contribute valid information. |
| Bacher U, Haferlach T, Kern W, Hiddemann W, Schnittger S, Schoch C |
| Annals of hematology. 2005 ; 84 (4) : 250-257. |
| PMID 15692838 |
| The role of the JAK2 mutations: A study in 1103 patients with CMPD and in 196 patients with AML. |
| Schnittger S, Bacher U, Petrides P, Kern W, Haferlach T, Schoch C |
| Leukemia, submitted. 2006. |
| Contributor(s) |
| Written | 09-2006 | Ulrike Bacher, Claudia Haferlach |
| Citation |
| This paper should be referenced as such : |
| Bacher U, Haferlach C . +9 or trisomy 9. Atlas Genet Cytogenet Oncol Haematol. Septem
ber 2006 . URL : http://AtlasGeneticsOncology.org/Genes/tri9ID1020.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Aug 11 21:21:15 2008 |
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