Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

dic(17;20)(p11.2;q11.2)

Written2008-09Aurelia M Meloni-Ehrig
Cytogenetics/Oncology, Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA 20151, USA

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1485
 
  Dicentric (17;20)(p11.2;q11.2) partial karyotype and ideogram.

Clinics and Pathology

Disease De novo acute myeloid leukemia ( AML ) and myelodysplastic syndrome ( MDS ); treatment-related AML ( t-AML ) and MDS (t-MDS).
Phenotype / cell stem 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 Epidemiology of the 8 patients reported to date, 7 were male and one was female, aged 47 to 87 yrs.
Prognosis Poor; majority of patients died between 2 and 8 months post diagnosis.

Cytogenetics

 
  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

Note 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].

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

The 17p-syndrome: a distinct myelodysplastic syndrome entity?
Jary L, Mossafa H, Fourcade C, Genet P, Pulik M, Flandrin G.
Leuk Lymphoma. 1997 Mar;25(1-2):163-8.
PMID 9130624
 
A new nonrandom unbalanced t(17;20) in myeloid malignancies.
Patsouris C, Michael PM, Campbell LJ.
Cancer Genet Cytogenet. 2002 Oct 1;138(1):32-7.
PMID 12419582
 
Granulocyte maturation and the chromosome deletion 17p- in primary myelodysplastic syndrome.
Pedersen B, Kerndrup G.
Acta Haematol. 1990;84(2):77-81.
PMID 2120890
 
17p- syndrome arising from a novel dicentric translocation in a patient with acute myeloid leukemia.
Watson N, Dunlop L, Robson L, Sharma P, Smith A.
Cancer Genet Cytogenet. 2000 Apr 15;118(2):159-62.
PMID 10748299
 

Citation

This paper should be referenced as such :
Meloni-Ehrig, AM
dic(17;20)(p11.2;q11.2)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):668-669.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/dic1720p11q11ID1485.html


Translocations implicated (Data extracted from papers in the Atlas)

 dic(17;20)(p11.2;q11.2)

External links

Mitelman databasedic(17;20)(p11.2;q11.2) [Case List]    dic(17;20)(p11.2;q11.2) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - 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 ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databasedic(17;20)(p11.2;q11.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 27 12:49:53 CET 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.