| Written | 2007-08 | Adriana Zamecnikova |
| Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait |
| 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 | 1433 |
 | |
| t(3;4)(p21;q34) G-banding | |
| Clinics and Pathology |
| Disease | Myeloid lineage, found in 1 myelodysplastic syndrome (MDS) and 1 Acute Myeloid Leukemia (AML) |
| Phenotype / cell stem origin | MDS-RA and M1 AML by FAB criteria, a primitive myeloid progenitor is likely to be involved |
| Etiology | No known prior exposure |
| Epidemiology | Only 2 cases to date, a 69 yr old female and a 31 yr old male, sex ratio 1M/1F |
| Clinics | Elevated WBC (68x109/l), 93% blasts in blood, lymphadenopaty, hepatosplenomegaly, high LDH in AML patient |
| Cytology | Positive for CD 34, HLDR, CD33, CD68, MPO in AML |
| Treatment | Chemotherapy followed by bone marrow transplantation in AML |
| Evolution | After the first cycle of therapy, persistent bone marrow infiltration with 11% blasts |
| Prognosis | Survival 6 month in MDS, 15 month+ in AML |
| Cytogenetics |
| Cytogenetics Morphological | May be misinterpreted as t(3;5) in suboptimal preparations |
| Cytogenetics Molecular | FISH analysis is recommended to exclude the more frequent t(3;5) |
 | |
| FISH with WCP 3 and 4 and LSI BCL6 and 5q EGR1 probes. | |
| Additional anomalies | t(3;4)(p21;q34) is part of a complex karyotype in MDS case associated with del(20q), sole abnormality in AML case |
| Genes involved and Proteins |
| Note | 3p21 is a recurrent breakpoint in MDS/AML and t-MDS/t-AML suggesting, 3p21 site is likely to contain a gene (genes) involved in the pathogenesis of t(3;4)(p21;q34). Frequent deletion or allelic loss of band 3p21 is common in solid tumors, indicating the presence of tumor suppressor genes on this chromosome arm. The association among structural chromosome 3 aberrations and fragile sites on 3p may indicate the importance of previous mutagen exposure in the etiology of these diseases. Although several cancer-related genes have been located to 3p21, no gene has yet been identified to be related with hematological malignancies. One of the candidate genes may be the AF3p21 gene, a novel fusion partner of the MLL gene described in a patient who had developed therapy-related leukemia with t(3;11)(p21;q23). AF3p21 encodes a protein localized exclusively in the cell nucleus, suggesting the possibility that AF3p21 protein plays a role in signal transduction in the nucleus. |
| 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. | |
| Case Report | t(3;4)(p21;q34) as a sole anomaly in acute myeloid leukemia patient |
| Bibliography |
| Genomic organization, tissue expression, and cellular localization of AF3p21, a fusion partner of MLL in therapy-related leukemia. |
| Hayakawa A, Matsuda Y, Daibata M, Nakamura H, Sano K |
| Genes, chromosomes & cancer. 2001 ; 30 (4) : 364-374. |
| PMID 11241789 |
| Risk factor analysis in myelodysplastic syndrome patients with del(20q): prognosis revisited. |
| Liu YC, Ito Y, Hsiao HH, Sashida G, Kodama A, Ohyashiki JH, Ohyashiki K |
| Cancer genetics and cytogenetics. 2006 ; 171 (1) : 9-16. |
| PMID 17074585 |
| Novel SH3 protein encoded by the AF3p21 gene is fused to the mixed lineage leukemia protein in a therapy-related leukemia with t(3;11) (p21;q23). |
| Sano K, Hayakawa A, Piao JH, Kosaka Y, Nakamura H |
| Blood. 2000 ; 95 (3) : 1066-1068. |
| PMID 10648423 |
| 3p21 is a recurrent treatment-related breakpoint in myelodysplastic syndrome and acute myeloid leukemia. |
| Shi G, Weh HJ, Martensen S, Seeger D, Hossfeld DK |
| Cytogenetics and cell genetics. 1996 ; 74 (4) : 295-299. |
| PMID 8976389 |
| t(3;4)(p21;q34) as a sole anomaly in acute myeloid leukemia patient |
| Zamecnikova A |
| Atlas Genet Cytogenet Oncol Haematol.. |
| Citation |
| This paper should be referenced as such : |
| Zamecnikova, A |
| t(3;4)(p21;q34) |
| Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):347-348. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0304p21q34ID1433.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(3;4)(p21;q34) | |
| 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 : Thu Aug 16 12:52:38 CEST 2018 |
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