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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

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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 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 Name MECOM
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 Name CDK6
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


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


This paper should be referenced as such :
Storlazzi, CT ; Albano, F
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):14-15.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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


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

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indexed on : Fri Jun 30 11:23:00 CEST 2017

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