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t(3;8)(q26;q24) PVT1/MECOM

Written2007-11Pei Lin
Department of Hematopathology, Box 72, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX, 77030, 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 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1463
 
  G-banding, t(3;8)(q26;q24)

Clinics and Pathology

Disease Acute myeloid leukemia, de novo myelodysplastic syndrome or therapy related myelodysplastic syndrome.
Phenotype / cell stem origin Mostly AML FAB-M2 or FAB-M-4 subtype.
Etiology Unclear, may be secondary to chemotherapy.
Epidemiology 10 cases reported so far in the literature, less than 1% of AML cases.
Cytology Acute myeloid leukemia of mostly M2, M4 or M5 FAB subtype or high grade MDS. Marked trilineage dysplasia and megakaryocytic hyperplasia, may be associated with peripheral blood thrombocytosis giving the so-call 3q21q26 syndrome.
 
Dysplastic myeloid elements.
 
Increased dysplastic megakaryocytes and increased blasts in the interstitium.
Treatment Chemotherapy; May responds to thalidomide or arsenic better than conventional chemotherapy.
Evolution Myelodysplastic syndrome progress to acute myeloid leukemia.
Prognosis Poor.

Cytogenetics

Note The breakpoint on 3q26 may lie in EVI1 or MDS1 genes. The breakpoint on 8q24 is distal to the PVT1 gene, a MYC activator gene in mice. The t(3;8) is frequently associated with -7. It also can be an isolated finding.

Genes involved and Proteins

Gene Name MECOM
Location 3q26.2
Note Aberrant EVI1 expression usually occurs in AML, MDS or CML-BC as a result of translocation involving 3q26. The most common ones are inv(3)(q21q26), t(3;3) and t(3;21)(q26;q22). The partner genes of EVI1 are identified as Ribophorin I in inv(3)(q21q26) and t(3;3), AML/MDS1/EAP in t(3;21), and ETV6 in t(3;12), respectively. Others involving t(3;12), t(2;3)(p13;q26), t(3;17)(q26;q22) and t(3;13)(q26;q13-14) are uncommon. Aberrant EVI1 expression also occurs in 10% of acute myeloid leukemia without involving 3q26 and is also correlated with an adverse outcome.
Dna / Rna 16 exons spanning 64.2 Kb. Transcriptional orientation is from telomere to centromere. EVI1 gene may be transcribed in different isoform which may have different oncogenic effect.
Protein 1051 amino acids; 118335 Da. Nuclear location, contains 10 C2H2-type zinc fingers.
Gene Name PVT1
Location 8q24
Note The RNA function of pvt1 is unknown.

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

High EVI1 expression predicts poor survival in acute myeloid leukemia: a study of 319 de novo AML patients.
Barjesteh van Waalwijk van Doorn-Khosrovani S, Erpelinck C, van Putten WL, Valk PJ, van der Poel-van de Luytgaarde S, Hack R, Slater R, Smit EM, Beverloo HB, Verhoef G, Verdonck LF, Ossenkoppele GJ, Sonneveld P, de Greef GE, Löwenberg B, Delwel R
Blood. 2003 ; 101 (3) : 837-845.
PMID 12393383
 
Aberrant EVI1 expression in acute myeloid leukemias associated with the t(3;8)(q26;q24).
Lennon PA, Abruzzo LV, Medeiros LJ, Cromwell C, Zhang X, Yin CC, Kornblau SM, Konopieva M, Lin P
Cancer genetics and cytogenetics. 2007 ; 177 (1) : 37-42.
PMID 17693189
 
EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements.
Poppe B, Dastugue N, Vandesompele J, Cauwelier B, De Smet B, Yigit N, De Paepe A, Cervera J, Recher C, De Mas V, Hagemeijer A, Speleman F
Genes, chromosomes & cancer. 2006 ; 45 (4) : 349-356.
PMID 16342172
 

Citation

This paper should be referenced as such :
Lin, P
t(3;8)(q26;q24)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):463-465.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0308q26q24ID1463.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;8)(q26;q24) PVT1/MECOM

External links

Mitelman databaset(3;8)(q26;q24) [Case List]    t(3;8)(q26;q24) [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 ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(3;8)(q26;q24) PVT1/MECOM
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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