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) CDK6::MECOM

Written2016-07Jean Loup Huret
Medical Genetics, Dept Medical Information, University Hospital, F-86021 Poitiers, France.

Abstract Review on t(3;7)(q26;q21), with data on clinics, and the genes involved.

Keywords chromosome 3; t(3;7)(q26;q21); MECOM

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9865/3 AML with t(6;9)(p23;q34); DEK-NUP214v AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI1
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1672

Clinics and Pathology

Disease Myeloid malignancies.
Phenotype / cell stem origin Fifteen cases are available (Tien et al., 1989; Henzan et al., 2004; Storlazzi et al., 2004; Madrigal et al., 2006; Bobadilla et al., 2007; Colovic et al., 2011; Haferlach et al., 2012). There were 4 chronic myelogenous leukemia in blast crisis (CML-BC), one myelodysplastic syndrome (MDS) and 10 acute myeloid leukemia (AML) cases.
Epidemiology t(3;7)(q26;q21) represented about 1% of a cohort of 606 AML and 377 MDS patients with normal karyotypes (n = 594) or chromosome 7 alterations (-7/7q-; n = 389). Median age was 51 years (range 47-70) (Haferlach et al., 2012). In 6 other patients, ages were, 18, 41, 56, 58, 61 and 71 years. Of 7 cases with data on the patient'sex; there were 6 male and 1 female patient.
Cytogenetics Cryptic rearrangement.
Prognosis Poor prognosis. Survival outcomes in 22 patients with cryptic MECOM rearrangements (der(7)t(3;7)(q26;q21), inv(3)(p24q26), and t(3;21)(q26;q11), altogether) were compared with inv(3)(q21q26)/t(3;3)(q21;q26) cases. Median overall survival was 9.4 months in the subgroup with cryptic MECOM rearrangements which was not significantly different from the 21.8 months in patients with an inv(3)(q21q26)/t(3;3)(q21;q26) (Haferlach et al., 2012). The 3 other patients with t(3;7)(q26;q21) and survival data died 4, 6, and 26 months after diagnosis.


Cytogenetics Morphological There were 6 cases of balanced form t(3;7)(q26;q21) (the 4 CML-BC and 2 AMLs), and 9 cases of unbalanced form der(7)t(3;7)(q26;q21) (1 MDS, and 8 AMLs). CML-BC cases also showed the typical t(9;22)(q34;q11). No other additional chromosome abnormality was found in any documented case.

Genes involved and Proteins

Gene NameMECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
Location 3q26.2
Note MECOM is a nuclear transcription factor that plays an essential role in the proliferation and maintenance of hematopoietic stem cells and can inhibit myeloid differentiation. Two alternative forms exists, one generated from EVI1, the other MECOM (MDS1 and EVI1 complex locus) through intergenic splicing with MDS1 (myelodysplasia syndrome 1), a gene located 140 kb upstream of EVI1.
Protein The protein encoded by this gene is a transcriptional regulator involved in cell differentiation and proliferation, and apoptosis. The encoded protein can interact with transcriptional coactivators (P/CAF, CBP) and corepressors (CTBP1, HDAC) as well as other transcription factors (GATA1, Smad3) (de Braekeleer et al., 2012)
Gene NameCDK6 (cyclin dependent kinase 6)
Location 7q21.2
Protein Serine/threonine-protein kinase; it was regarded as a mere homolog of CDK4 with overlapping functions in the initiation of the cell cycle. CCND1 (cyclin D1) is an activator of CDK4/ CDK6. CDK4 and CDK6 associate with D-type cyclins, to go through from the G1 phase to the S phase. CDK6 is overexpressed and/or amplified in leukemias and lymphomas, glioblastoma and pancreatic cancer. CDK6 can regulate transcription independently of its kinase activity (Tigan et al., 2016).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Increased MECOM expression was noted.


An interphase fluorescence in situ hybridisation assay for the detection of 3q26.2/EVI1 rearrangements in myeloid malignancies.
Bobadilla D, Enriquez EL, Alvarez G, Gaytan P, Smith D, Slovak ML.
Br J Haematol. 2007 Mar;136(6):806-13.
PMID 17341266
Therapy-related myelodysplastic syndrome and acute myeloid leukemia in patients with chronic lymphocytic leukemia treated with fludarabine and cyclophosphamide.
Colović M, Suvajdić N, Janković G, Tomin D, Colović N, Fekete MD, Palibrk V.
Biomed Pharmacother. 2011 Aug;65(5):319-21. doi: 10.1016/j.biopha.2011.04.006. Epub 2011 Jun 1.
PMID 21775097
Three novel cytogenetically cryptic EVI1 rearrangements associated with increased EVI1 expression and poor prognosis identified in 27 acute myeloid leukemia cases.
Haferlach C, Bacher U, Grossmann V, Schindela S, Zenger M, Kohlmann A, Kern W, Haferlach T, Schnittger S.
Genes Chromosomes Cancer. 2012 Dec;51(12):1079-85. doi: 10.1002/gcc.21992. Epub 2012 Aug 8.
PMID 22887804
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.
Ann Hematol. 2004 Dec;83(12):784-8. Epub 2004 Aug 18.
PMID 15322764
Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangements.
Madrigal I, Carrió A, Gómez C, Rozman M, Esteve J, Nomdedeu B, Campo E, Costa D.
Cancer Genet Cytogenet. 2006 Oct 15;170(2):115-20.
PMID 17011981
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.
Ann Hematol. 2004 Feb;83(2):78-83. Epub 2003 Oct 10.
PMID 14551738
Chromosomal characteristics of Ph-positive chronic myelogenous leukemia in transformation. A study of 23 Chinese patients in Taiwan.
Tien HF, Chuang SM, Wang CH, Lee FY, Chien SH, Chen YC, Shen MC, Liu CH.
Cancer Genet Cytogenet. 1989 May;39(1):89-97.
PMID 2731152
CDK6-a review of the past and a glimpse into the future: from cell-cycle control to transcriptional regulation.
Tigan AS, Bellutti F, Kollmann K, Tebb G, Sexl V.
Oncogene. 2016 Jun 16;35(24):3083-91. doi: 10.1038/onc.2015.407. Epub 2015 Oct 26. Review.
PMID 26500059
de Braekeleer E, Douet-Guilbert, N, Le Bris MJ, Basink A, Morel F, de Braekeleer M.
Atlas Genet Cytogenet Oncol Haematol. 2013;17(7):491-493.


This paper should be referenced as such :
Jean Loup Huret
t(3;7)(q26;q21) CDK6/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2017;21(5):187-188.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;7)(q26;q21) CDK6/MECOM

External links

Mitelman databaset(3;7)(q26;q21)
arrayMap (UZH-SIB Zurich)Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9865/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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 Oct 8 16:36:24 CEST 2021

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

For comments and suggestions or contributions, please contact us