Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(3;21)(q26;q22)
| Identity |
 | |
| t(3;21)(q26;q22)) G-banding (top left) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, Cytogenetics at the Waisman, and R-banding (bottom left) with diagrams - courtesy Peter Meeus. | |
| Clinics and Pathology |
| Disease | CML-BC of myeloid type (as far as 1% of cases); ANLL and MDS, often therapy related |
| Phenotype / cell stem origin | no FAB specificity |
| Epidemiology | >1% of ANLL; all ages represented |
| Clinics | may be secondary to toxic exposure, as to antitopoisomerase II |
| Cytology | presence of micromegakarycytes, both in BC-CML and MDS/ANLL cases; low platelet count and dysmyelopoiesis in MDS/ANLL cases |
| Prognosis | poor survival |
| Genes involved and Proteins |
| Gene Name | EVI1 |
| Location | 3q26 |
| Note | or EAP (129 amino acids; putative nuclear localization signal) and/or MDS1 (rich in: proline, serine, and acidic residues), both also in 3q26 |
| Gene Name | AML1 |
| Location | 21q22 |
| Dna / Rna | transcription is from telomere to centromere |
| Protein | contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes |
| Result of the chromosomal anomaly |
| Description | fusion gene: on the der(3); 5' AML1 - 3' EVI1 (or 5' AML1- 3' EAP/MDS1) |
| Description | AML1-EVI1: 180 kDa; breakpoint after exon 5 or 6 in AML1, at the very 5' end of EVI1 --> translocation protein includes N-term AML1 with the Runt domain and most of the gene EVI1, from the second untranslated exon to C-term, which includes the 2 zinc fingers |
| Oncogenesis | chimeric transcription factor with the dual functions of AML1 and EVI1: differenciation block (due to Runt) and stimulation of proligferation (from the zn fingers) |
| External links |
| Other database | t(3;21)(q26;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(3;21)(q26;q22) | CancerChromosomes (NCBI) |
| Bibliography |
| Differential usage of an autoantibody-associated VH gene, VH4-21, by human B-cell tumors. |
| Stevenson FK, Spellerberg MB, Chapman CJ, Hamblin TJ |
| Leukemia & lymphoma. 1995 ; 16 (5-6) : 379-384. |
| PMID 7787747 |
| Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. |
| Secker-Walker LM, Mehta A, Bain B |
| British journal of haematology. 1995 ; 91 (2) : 490-501. |
| PMID 8547101 |
| AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia. |
| Nucifora G, Rowley JD |
| Blood. 1995 ; 86 (1) : 1-14. |
| PMID 7795214 |
| The AML1 gene: a transcription factor involved in the pathogenesis of myeloid and lymphoid leukemias. |
| Lo Coco F, Pisegna S, Diverio D |
| Haematologica. 1997 ; 82 (3) : 364-370. |
| PMID 9234595 |
| Molecular mechanism of blastic crisis in chronic myelocytic leukemia. |
| Mitani K |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1997 ; 11 Suppl 3 : 503-505. |
| PMID 9209439 |
| Contributor(s) |
| Written | 12-1997 | Jean-Loup Huret and François Desangles |
| Citation |
| This paper should be referenced as such : |
| Huret JL and Desangles F . t(3;21)(q26;q22). Atlas Genet Cytogenet Oncol Haematol. December 1997 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0321.html |
| Huret JL and Desangles F . t(3;21)(q26;q22). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t0321.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:17 2008 |
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