Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(16;21)(q24;q22)
| Identity |
 | |
| t(16;21)(q24;q22) G-banding (top left) - Courtesy Jean Luc Laï; R-banding (middle left - Courtesy Jean Luc Laï and top and middle right - Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski). Fish studies: chromosome 16 and 21 paints; AML1 probe: the 2 chromosomes 21 and the der(16) are labelled (below) - Courtesy Pascale Cornillet-Lefebvre and Stéphanie Struski. | |
| Clinics and Pathology |
| Disease | Myelodysplastic syndromes (MDS) and acute non lymphocytic leukemias (ANLL) and therapy related ANLL |
| Phenotype / cell stem origin | M1 or M2 ANLL |
| Etiology | 11 of 15 cases have had treatment for a previous malignancy (treatment related MDS or ANLL (t-MDS/ANLL)). Previous disease was a breast cancer in 5 cases, a hematologic malignancy in 4. |
| Epidemiology | 15 available cases at least, sex ratio: 2M / 13F; mediane age around 50 yrs (range <15 - 62) |
| Clinics | blood data: pancytopenia |
| Prognosis | poor |
| Cytogenetics |
| Additional anomalies | + 8 found in 7 of 15 cases |
| Genes involved and Proteins |
| Gene Name | CBFA2T3 (MTG16) |
| Location | 16q24 |
| Protein | member of the ETO (MTG8) family |
| 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 | 5' AML1 - 3' CBFA2T3 |
| External links |
| Other database | t(16;21)(q24;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(16;21)(q24;q22) | CancerChromosomes (NCBI) |
| To be noted |
| Case Report | A case of trisomy 8 and loss of the Y-chromosome as secondary aberrations in a ten year old boy with de novo AML FAB M2 and t(16;21)(q24;q22) |
| Bibliography |
| Cytogenetics of childhood acute nonlymphocytic leukemia. |
| Raimondi SC, Kalwinsky DK, Hayashi Y, Behm FG, Mirro J Jr, Williams DL |
| Cancer genetics and cytogenetics. 1989 ; 40 (1) : 13-27. |
| PMID 2758395 |
| Metaphase fluorescence in situ hybridization (FISH) in the follow-up of 60 patients with haemopoietic malignancies. |
| Nylund SJ, Ruutu T, Saarinen U, Knuutila S |
| British journal of haematology. 1994 ; 88 (4) : 778-783. |
| PMID 7819102 |
| Clonal karyotypic hematopoietic cell abnormalities occurring after autologous bone marrow transplantation for Hodgkin's disease and non-Hodgkin's lymphoma. |
| Traweek ST, Slovak ML, Nademanee AP, Brynes RK, Niland JC, Forman SJ |
| Blood. 1994 ; 84 (3) : 957-963. |
| PMID 8043877 |
| Secondary acute myeloblastic leukemia with t(16;21) (q24;q22). involving the AML1 gene. |
| Berger R, Le Coniat M, Romana SP, Jonveaux P |
| Hematology and cell therapy. 1996 ; 38 (2) : 183-186. |
| PMID 8932000 |
| A recurrent translocation, t(16;21)(q24;q22), associated with acute myelogenous leukemia: identification by fluorescence in situ hybridization. |
| Shimada M, Ohtsuka E, Shimizu T, Matsumoto T, Matsushita K, Tanimoto F, Kajii T |
| Cancer genetics and cytogenetics. 1997 ; 96 (2) : 102-105. |
| PMID 9216714 |
| The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family. |
| Gamou T, Kitamura E, Hosoda F, Shimizu K, Shinohara K, Hayashi Y, Nagase T, Yokoyama Y, Ohki M |
| Blood. 1998 ; 91 (11) : 4028-4037. |
| PMID 9596646 |
| A case of therapy-related acute myeloblastic leukemia with t(16;21)(q24;q22) after chemotherapy with DNA-topoisomerase II inhibitors, etoposide and mitoxantrone, and the alkylating agent, cyclophosphamide. |
| Takeda K, Shinohara K, Kameda N, Ariyoshi K |
| International journal of hematology. 1998 ; 67 (2) : 179-186. |
| PMID 9631585 |
| AML1-MTG16 fusion gene in therapy-related acute leukemia with t(16;21)(q24;q22): two new cases. |
| Salomon-Nguyen F, Busson-Le Coniat M, Lafage Pochitaloff M, Mozziconacci J, Berger R, Bernard OA |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1704-1705. |
| PMID 10995019 |
| 21q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: report from an international workshop. |
| Slovak ML, Bedell V, Popplewell L, Arber DA, Schoch C, Slater R |
| Genes, chromosomes & cancer. 2002 ; 33 (4) : 379-394. |
| PMID 11921272 |
| Contributor(s) |
| Written | 04-1998 | Christine Pérot |
| Laboratoire de Cytogenetique, Hopital Saint-Antoine, Paris, France |
| Citation |
| This paper should be referenced as such : |
| Pérot C . t(16;21)(q24;q22). Atlas Genet Cytogenet Oncol Haematol. April 1998 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1621ID1123.html |
| Huret JL . t(16;21)(q24;q22). Atlas Genet Cytogenet Oncol Haematol. . URL : http://AtlasGeneticsOncology.org/Anomalies/t1621ID1123.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:13:15 2008 |
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