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inv(3)(p24q26) ?/MECOM

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

Abstract Review on inv(3)(p24q26), with data on clinics, and the genes involved.

Keywords chromosome 3; inv(3)(p24q26); MECOM

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
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 1441

Clinics and Pathology

Note Ten cases available, but with almost no data (Haferlach et al., 2012).
Phenotype / cell stem origin Out of ten cases, there were eight acute myeloid leukemia (AML) cases, and two myelodysplastic syndromes (MDS)
Epidemiology inv(3)(p24q26) 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 60 years (range 20-76)
Cytogenetics Cryptic rearrangement.
Prognosis Survival outcomes in 22 patients with cryptic MECOM rearrangements (inv(3)(p24q26), t(3;21)(q26;q11), and der(7)t(3;7)(q26;q21) altogether) and 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)

Genes involved and Proteins

Note The partner of MECOM is unknown.
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)

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Increased MECOM expression was noted.

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.


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
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
inv(3)(p24q26) ?/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2017;21(4):160-161.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 inv(3)(p24q26) /MECOM

External links

Mitelman databaseinv(3)(p24q26)
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

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