+20 or trisomy 20 (solely)

2011-01-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


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).


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 stem cell 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.


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).


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

Genes involved are unknown.


Pubmed IDLast YearTitleAuthors
27311441989Trisomy 20 in acute myelogenous leukemia.Attas L et al
165228152006Pretreatment 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.Farag SS et al
15280671992Morphologic, immunologic and cytogenetic studies in acute myeloid leukemia following occupational exposure to pesticides and organic solvents.Cuneo A et al
77801521995Cytogenetic profile of minimally differentiated (FAB M0) acute myeloid leukemia: correlation with clinicobiologic findings.Cuneo A et al
29173311989Cytogenetic analysis of different cellular populations in chronic myelomonocytic leukemia.Cuneo A et al
77739611995Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma.Hashimoto K et al
105758391999Acute monoblastic leukemia in a child following chemotherapy for neuroblastoma.Jaing TH et al
38770351985Cytogenetic studies of childhood non-Hodgkin lymphomas.Kristoffersson U et al
113803982001The prognostic impact of karyotypic subgroups in myelodysplastic syndromes is strongly modified by sex.Mauritzson N et al
34701201987Cytogenetic study of circulating blasts in leukemias.Michalová K et al
119603472002AML1 gene over-expression in childhood acute lymphoblastic leukemia.Mikhail FM et al
23067141990Clonal chromosomal changes in chronic lymphocytic leukemia.Nayak BN et al
31191881987Chromosome changes in 19 patients with Waldenström's macroglobulinemia.Palka G et al
184583362008Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease.Paulsson K et al
91070781997Myelodysplastic syndromes with monocytic component: hematologic and cytogenetic characterization.Rigolin GM et al
6491561978A new cytogenetic aspect of polycythemia vera.Shabtai F et al
32973041987Chromosomal abnormalities in indolent lymphoma.Speaks SL et al
115205582001Interphase detection of immunoglobulin heavy chain gene translocations with specific oncogene loci in 173 patients with B-cell lymphoma.Tamura A et al


Jean-Loup Huret

+20 or trisomy 20 (solely)

Atlas Genet Cytogenet Oncol Haematol. 2011-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1572/+20-or-trisomy-20-(solely)