Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(3;8)(q26;q24)
| Identity |
 | |
| 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. |
| Probes | EVI1/MDS1 RP11-115B16, RP11-114D6; Vysis C-MYC; Break-apart distal; Probe (green). |
| Genes involved and Proteins |
| Gene Name | EVI1/MDS1 |
| 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/C-MYC (pvt-1 (murine) oncogene homolog, MYC activator) |
| Location | 8q24 |
| Note | The RNA function of pvt1 is unknown. |
| External links |
| Other database | t(3;8)(q26;q24) | Mitelman database (CGAP - NCBI) | |
| Other database | t(3;8)(q26;q24) | CancerChromosomes (NCBI) |
| 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, Lwenberg B, Delwel R |
| Blood. 2003 ; 101 (3) : 837-845. |
| PMID 12393383 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 11-2007 | Pei Lin |
| Department of Hematopathology, Box 72, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX, 77030, USA |
| Citation |
| This paper should be referenced as such : |
| Lin P . t(3;8)(q26;q24). Atlas Genet Cytogenet Oncol Haematol. November 2007 . URL : http://AtlasGeneticsOncology.org/Genes/t0308q26q24ID1463.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jul 14 16:32:52 2008 |
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