2008-09-01   Aurelia M Meloni-Ehrig 

1.Cytogenetics/Oncology, Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA 20151, USA

Clinics and Pathology


De novo acute myeloid leukemia ( AML ) and myelodysplastic syndrome ( MDS ); treatment-related AML ( t-AML ) and MDS (t-MDS).

Phenotype stem cell origin

8 cases reported: 4 de novo AML cases (including one AML-M2 and one erythroleukemia ), 3 de novo MDS cases (including one refractory anemia ), one t-MDS, and one t-MDS in transformation to AMMoL.


Epidemiology of the 8 patients reported to date, 7 were male and one was female, aged 47 to 87 yrs.


Poor; majority of patients died between 2 and 8 months post diagnosis.


Atlas Image
FISH image of a metaphase showing a normal copy of chromosomes 17 and 20 as well as the dic(17;20). The metaphase appears stained in blue (DAPI counterstain). Red signal, chromosome 20 centromere; green signal: chromosome 17 centromere. The dic(17;20) shows both centromeres.

Additional anomalies

Sole anomaly in one case; remaining cases with additional abnormalities; association with -5/del(5q), -7/del(7q), and/or +8 is frequent.

Genes Involved and Proteins

dic(17;20) leads to loss of 17p (TP53 gene). Because of this, patients with this abnormality may have a prognostic outcome similar to the patients with "17p- syndrome". Dicentric (17;20) also leads to loss of 20q [various genes involved: topoisomerase 1 ( TOP1 ), phospholipase C ( PLC1 ), hepatocyte factor nuclear 4 ( HNF4 ), adenosine deaminase ( ADA ); KRML transcriptional regulator].


Pubmed IDLast YearTitleAuthors
91306241997The 17p-syndrome: a distinct myelodysplastic syndrome entity?Jary L et al
124195822002A new nonrandom unbalanced t(17;20) in myeloid malignancies.Patsouris C et al
21208901990Granulocyte maturation and the chromosome deletion 17p- in primary myelodysplastic syndrome.Pedersen B et al
10748299200017p- syndrome arising from a novel dicentric translocation in a patient with acute myeloid leukemia.Watson N et al


Atlas Image
Dicentric (17;20)(p11.2;q11.2) partial karyotype and ideogram.


Aurelia M Meloni-Ehrig


Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1485/dic(17;20)(p11-2;q11-2)