| Clinics and Pathology |
| Disease | acute non lymphoblastic leukemia (ANLL) and myelodysplastic syndromes (MDS); de novo ANLL and treatment related leukemias (t-ANLL) |
| Phenotype / cell stem origin | one M2, one treatment related RAEBt/M4, one t-ANLL |
| Etiology | two cases are secondary to treatment with topoisomerase II inhibitors for Hodgkin disease and neuroblastoma |
| Epidemiology | 3 cases to date; 1M/2F, aged 2yrs, 39 yrs and 76 yrs |
| Prognosis | unknown |
| Cytogenetics |
| Additional anomalies | sole anomaly in one case; one case was also -7, +8, one case showed also a t(11;12)(p15;q13) with NUP98 rearrangement |
| Genes involved and Proteins |
| Note | the gene involved in 17q11 is unknown; the breakpoint on chromosome 17 is between the loci for NF1 and RARA |
| 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 prime AML1-3 prime unknown; breakpoint in intron 5 or 6 of AML1 |
| Description | the N-term is provided by AML1, as in the t(3;21) and in the t(8;21)associated with ANLLs, whereas, in the ALL with t(12;21), the fusion protein comprises the C-term part of AML1. |
| External links |
| Other database | t(17;21)(q11.2;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(17;21)(q11.2;q22) | 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 |
| CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy. |
| Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD |
| Blood. 1998 ; 92 (8) : 2879-2885. |
| PMID 9763573 |
| Secondary raeb-t associated with t(17;21) in a child treated by VP16 for neuroblastoma. |
| LySunnaram B, Gandemer V, Le Mee F, Cayuela JM, Edan C, Le Gall E, Goasguen JE |
| Blood. 1999 ; 94 (numero Suppl 1). |
| NUP98 gene rearrangements in leukemia detected by fluorescence in situ hybridization (FISH). |
| Kobzev YN, Rowley JD |
| Blood. 1999 ; 94 (numero Suppl 1). |
| NUP98 gene rearrangements in leukemia detected by fluorescence in situ hybridization (FISH). |
| Kobzev YN, Rowley JD. |
| Blood 1999; 94 Suppl 1: Abst 2221. |
| Contributor(s) |
| Written | 02-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(17;21)(q11.2;q22). Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Genes/t1721ID1181.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:03:36 2008 |
For comments and suggestions or contributions, please contact us