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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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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
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.

Bibliography

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Interphase detection of immunoglobulin heavy chain gene translocations with specific oncogene loci in 173 patients with B-cell lymphoma.
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Citation

This paper should be referenced as such :
Huret, JL
+20 or trisomy 20 (solely)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(8):697-698.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/tri20ID1572.html


External links

arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease database+20 or trisomy 20 (solely)
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