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+20 or trisomy 20 (solely)

Written2011-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
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 1572

Clinics and Pathology

Disease Myeloid and lymphoid malignancies (Shabtai et al., 1978; Kristoffersson et al., 1985; Michalová et al., 1987; Palka et al., 1987; Speaks et al., 1987; Attas et al., 1989; Cuneo et al., 1989; Nayak et al., 1990; Cuneo et al., 1992; Cuneo et al., 1995; Hashimoto et al., 1995; Rigolin et al., 1997; Jaing et al., 1999; Mauritzson et al., 2001; Tamura et al., 2001; Mikhail et al., 2002; Farag et al., 2006; Paulsson et al., 2008).
Note Trisomy 20 solely has also been reported in various benign and malignant solid tumours, in particular in desmoid fibromatosis, colonic adenomatous polyps, colorectal adenocarcinomas, fibroadenomas of the breast, breast adenocarcinoma, transitional cell carcinoma of the urinary tract, squamous cell carcinoma of the oro-pharynx and naso-pharynx; it has also been found more rarely in many other solid tumours (see records in the Mitelman Database).
Phenotype / cell stem origin Trisomy 20 solely has been described in 20 cases of hematological malignancies:
This was a myeloid malignancy in 12 cases: six acute myeloid leukaemias (AML), four myelodysplastic syndromes (MDS), and two myeloproliferative disorders (MPD). They were: two M4-AML, two M5-AML, one M0-AML, one AML not otherwise specified (NOS), one refractory anaemia (RA), one RA with excess of blasts (RAEB), one chronic myelomonocytic leukaemia (CMML), one MDS-NOS, and two polycytemia vera (PV). One AML, a M5-AML, appeared to be treatment-related, in a 8-year-old girl with neuroblastoma, diagnosed 32 months before onset of the leukaemia. A cryptic rearrangement of MLL was found. Survival was short (Jaing et al., 1999).
The 8 lympoid cases were: three acute lymphoblastic leukaemias (ALL) (two of which involved the T-cell lineage), one chronic lymphocytic leukaemia (CLL), three non Hodgkin lymphomas (NHL) : one follicular (FL), one diffuse large B-cell (DLBL), and one T-cell lymphoma); and one Waldenstrom macroglobulinemia.
Epidemiology In the myeloid group, there were 7 male and 5 female patients, median age was 68-72 years (range: 8-79 years, 8 of the 10 documented cases were above 60 years). In the lymploid group, there was an unbalanced sex ratio: 6 male and 2 female patients; median age was 33-53 years (range: 7-76 years).
Prognosis Data is very scarce, and not conclusive, inasmuch as the genes involved in these cases are unknown, and as the trisomy 20 group is probably heterogeneous from that view point.

Genes involved and Proteins

Note Genes involved are unknown.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Trisomy 20 in acute myelogenous leukemia.
Attas L, Lichtman SM, Budman DR, Verma RS.
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PMID 2731144
Pretreatment cytogenetics add to other prognostic factors predicting complete remission and long-term outcome in patients 60 years of age or older with acute myeloid leukemia: results from Cancer and Leukemia Group B 8461.
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Blood. 2006 Jul 1;108(1):63-73. Epub 2006 Mar 7.
PMID 16522815
Morphologic, immunologic and cytogenetic studies in acute myeloid leukemia following occupational exposure to pesticides and organic solvents.
Cuneo A, Fagioli F, Pazzi I, Tallarico A, Previati R, Piva N, Carli MG, Balboni M, Castoldi G.
Leuk Res. 1992 Aug;16(8):789-96.
PMID 1528067
Cytogenetic profile of minimally differentiated (FAB M0) acute myeloid leukemia: correlation with clinicobiologic findings.
Cuneo A, Ferrant A, Michaux JL, Boogaerts M, Demuynck H, Van Orshoven A, Criel A, Stul M, Dal Cin P, Hernandez J, et al.
Blood. 1995 Jun 15;85(12):3688-94.
PMID 7780152
Cytogenetic analysis of different cellular populations in chronic myelomonocytic leukemia.
Cuneo A, Tomasi P, Ferrari L, Balboni M, Piva N, Fagioli F, Castoldi G.
Cancer Genet Cytogenet. 1989 Jan;37(1):29-37.
PMID 2917331
Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma.
Hashimoto K, Miura I, Chyubachi A, Saito M, Miura AB.
Cancer Genet Cytogenet. 1995 May;81(1):56-65.
PMID 7773961
Acute monoblastic leukemia in a child following chemotherapy for neuroblastoma.
Jaing TH, Yang CP, Hung IJ.
J Formos Med Assoc. 1999 Oct;98(10):688-91.
PMID 10575839
Cytogenetic studies of childhood non-Hodgkin lymphomas.
Kristoffersson U, Heim S, Heldrup J, Akerman M, Garwicz S, Mitelman F.
Hereditas. 1985;103(1):77-84.
PMID 3877035
The prognostic impact of karyotypic subgroups in myelodysplastic syndromes is strongly modified by sex.
Mauritzson N, Johansson B, Rylander L, Albin M, Stromberg U, Billstrom R, Ahlgren T, Mikoczy Z, Mitelman F, Hagmar L, Nilsson PG.
Br J Haematol. 2001 May;113(2):347-56.
PMID 11380398
Cytogenetic study of circulating blasts in leukemias.
Michalova K, Kobylka P, Lukasova M, Neuwirt J.
Cancer Genet Cytogenet. 1987 Apr;25(2):329-39.
PMID 3470120
AML1 gene over-expression in childhood acute lymphoblastic leukemia.
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G.
Leukemia. 2002 Apr;16(4):658-68.
PMID 11960347
Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer (2011).
Mitelman F, Johansson B and Mertens F (Eds.).
Clonal chromosomal changes in chronic lymphocytic leukemia.
Nayak BN, Sokal J, Ray M.
Cancer Lett. 1990 Feb;49(2):99-105.
PMID 2306714
Chromosome changes in 19 patients with Waldenstrom's macroglobulinemia.
Palka G, Spadano A, Geraci L, Fioritoni G, Dragani A, Calabrese G, Guanciali Franchi P, Stuppia L.
Cancer Genet Cytogenet. 1987 Dec;29(2):261-9.
PMID 3119188
Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease.
Paulsson K, Cazier JB, Macdougall F, Stevens J, Stasevich I, Vrcelj N, Chaplin T, Lillington DM, Lister TA, Young BD.
Proc Natl Acad Sci U S A. 2008 May 6;105(18):6708-13. Epub 2008 May 5.
PMID 18458336
Myelodysplastic syndromes with monocytic component: hematologic and cytogenetic characterization.
Rigolin GM, Cuneo A, Roberti MG, Bardi A, Castoldi G.
Haematologica. 1997 Jan-Feb;82(1):25-30.
PMID 9107078
A new cytogenetic aspect of polycythemia vera.
Shabtai F, Weiss S, van der Lijn E, Lewinski U, Djaldetti M, Halbrecht I.
Hum Genet. 1978 Apr 24;41(3):281-7.
PMID 649156
Chromosomal abnormalities in indolent lymphoma.
Speaks SL, Sanger WG, Linder J, Johnson DR, Armitage JO, Weisenburger D, Purtilo D.
Cancer Genet Cytogenet. 1987 Aug;27(2):335-44.
PMID 3297304
Interphase detection of immunoglobulin heavy chain gene translocations with specific oncogene loci in 173 patients with B-cell lymphoma.
Tamura A, Miura I, Iida S, Yokota S, Horiike S, Nishida K, Fujii H, Nakamura S, Seto M, Ueda R, Taniwaki M.
Cancer Genet Cytogenet. 2001 Aug;129(1):1-9.
PMID 11520558


This paper should be referenced as such :
Huret, JL
+20 or trisomy 20 (solely)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(8):697-698.
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External links

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