Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

t(3;7)(q26;q21) MECOM/CDK6

Written2005-08Clelia Tiziana Storlazzi, Francesco Albano
Department of Genetics, Microbiology, University of Bari, Via Amendola 165/A, 70126 Bari, Italy

(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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1287
 
  Partial karyotype showing an unbalanced t(3;7)(q26;q21)

Clinics and Pathology

Note This translocation has been observed in myeloid leukemia [one case of acute myeloid leukemia (AML), subtype M4, and two cases of chronic myeloid leukemia in blast crisis (CML-BC)]
Disease blast crisis chronic myelogenous leukemia (myeloid-myeloid/NK phenotype)
Phenotype / cell stem origin myeloid leukemia
Prognosis poor

Disease AML M4
Phenotype / cell stem origin Acute myeloid leukemia
Prognosis poor

Cytogenetics

Cytogenetics Morphological t(3;7)(q26;q21) in BC-CML; -7,+der(7)t(3;7)(q26;q21) in AML M4
 
  FISH cohybridization between clones identifying breakpoints on chromosome 3 (RP11-33A1) and 7 (RP11-332M5) in a case of BC-CML with a t(3;7)(q21;q26).
Additional anomalies Sole anomaly in AML; Ph chromosome in BC-CML patients
Variants No variants described.

Genes involved and Proteins

Gene NameMECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
Location 3q26.2
Note EVI1 is expressed at very low levels in normal peripheral blood and bone marrow. The gene is overexpressed in myeloid leukemias and myelodysplastic syndromes as a result of chromosomal rearrangements at either the 5' region of the gene in t(3;3)(q21;q26) or at the 3' region in inv(3)(q21q26) by juxtaposition of the gene to putative enhancer elements of the Ribophorin I gene in 3q21. High expression of EVI1 can also occur in the t(3;21)(q26;q22) as part of the fusion gene AML1/MDS1/EVI1 in CML-BC, or MDS or as part of the fusion gene ETV6/MDS1/EVI1 in AML with t(3;12) translocation. EVI1 is also involved in other translocations such as t(2;3)(p13;q26), t(2;3)(q23;q26), t(3;17)(q26;q22) and t(3;13)(q26;q13-14). Other studies have reported abnormal expression of EVI1 in MDS and AML without 3q26 structural abnormalities, suggesting that inappropriate activation of this gene occurs through various mechanisms.
Dna / Rna 16 exons spanning 64.2 Kb. Transcriptional orientation is from telomere to centromere. 6 splicing variants.
Protein 1051 amino acids; 118335 Da. Nuclear location, contains 10 C2H2-type zinc fingers.
Gene NameCDK6 (cyclin dependent kinase 6)
Location 7q21.2
Dna / Rna 7 exons spanning 229 Kb. Transcriptional orientation is from telomere to centromere.
Protein 326 amino acids; 36938 Da. It belongs to the Ser/Thr protein kinase family, CDC2/CDKX subfamily. It is probably involved in the control of the cell cycle. Interacts with D-type G1 cyclins.

Result of the chromosomal anomaly

Hybrid gene
Note overexpression of EVI1 in bone marrow; no detected CDK6/EVI1 fusion gene in any of the myeloid leukemia cases analyzed.
  

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.
Case Report t(3;7)(q26;q21) as a secondary abnormality in MDS RAEB-2

Bibliography

Myeloid/natural killer cell blast crisis representing an additional translocation, t(3;7)(q26;q21) in Philadelphia-positive chronic myelogenous leukemia.
Henzan H, Yoshimoto G, Okeda A, Nagasaki Y, Hirano G, Takase K, Tanimoto T, Miyamoto T, Fukuda T, Nagafuji K, Harada M
Annals of hematology. 2004 ; 83 (12) : 784-788.
PMID 15322764
 
A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1.
Storlazzi CT, Anelli L, Albano F, Zagaria A, Ventura M, Rocchi M, Panagopoulos I, Pannunzio A, Ottaviani E, Liso V, Specchia G
Annals of hematology. 2004 ; 83 (2) : 78-83.
PMID 14551738
 

Citation

This paper should be referenced as such :
Storlazzi, CT ; Albano, F
t(3;7)(q26;q21)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):14-15.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0307q26q21ID1287.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes MECOM

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;7)(q26;q21) MECOM/CDK6

External links

MECOM (3q26.2) CDK6 (7q21.2)

Mitelman databaset(3;7)(q26;q21) [Case List]    t(3;7)(q26;q21) [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 ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseMECOM/CDK6 [MCList]  MECOM (3q26.2) CDK6 (7q21.2)
 
Disease databaset(3;7)(q26;q21) MECOM/CDK6
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 : Mon Sep 18 17:19:20 CEST 2017


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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.