| Written | 2003-02 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 | 1174 |
| Clinics and Pathology |
| Disease | myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) |
| Phenotype / cell stem origin | 1 case of refractory anemia with excess of blastsin transformation (RAEB-t), 1 MDS evolving towards a M4-AML, 2 M2-AML, and 1 AML not otherwise specified |
| Epidemiology | 5 cases to date; 3M/2F, aged 58 yr (median, range: 31-75) |
| Cytogenetics |
| Cytogenetics Morphological | sole anomaly in 2 cases, complex karyotypes in 2 other cases. |
| Genes involved and Proteins |
| Note | The gene in 5q13 is yet unknown, and, because cryptic t(12;21) ETV6 /AML1 are not rare, it is therefore uncertain whether this translocation involve a new AML1 partner |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| 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 |
| 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 |
| Testicular infiltration in acute myeloid leukemia with complex karyotype including t(8;21). |
| Giagounidis AA, Hildebrandt B, Braunstein S, Aivado M, Germing U, Heinsch M, Aul C |
| Annals of hematology. 2002 ; 81 (2) : 115-118. |
| PMID 11907795 |
| A new translocation, t(5;21)(q13;q22) in acute myelogenous leukemia. |
| Gogineni SK, da Costa M, Verma RS |
| Cancer genetics and cytogenetics. 1996 ; 88 (2) : 167-169. |
| PMID 8640729 |
| Combined spectral karyotyping and DAPI banding analysis of chromosome abnormalities in myelodysplastic syndrome. |
| Kakazu N, Taniwaki M, Horiike S, Nishida K, Tatekawa T, Nagai M, Takahashi T, Akaogi T, Inazawa J, Ohki M, Abe T |
| Genes, chromosomes & cancer. 1999 ; 26 (4) : 336-345. |
| PMID 10534769 |
| Concurrent translocations of MLL and CBFA2 (AML1) genes with new partner breakpoints in a child with secondary myelodysplastic syndrome after treatment of acute lymphoblastic leukemia. |
| Mathew S, Head D, Rubnitz JE, Raimondi SC |
| Genes, chromosomes & cancer. 2000 ; 28 (2) : 227-232. |
| PMID 10825008 |
| Chromosome pattern, occupation, and clinical features in patients with acute nonlymphocytic leukemia. |
| Mitelman F, Nilsson PG, Brandt L, Alimena G, Gastaldi R, Dallapiccola B |
| Cancer genetics and cytogenetics. 1981 ; 4 (3) : 197-214. |
| PMID 7317873 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(5;21)(q13;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):115-115. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0521q13q22ID1174.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | RUNX1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(5;21)(q13;q22) RUNX1/? | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:19:38 CEST 2017 |
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