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Written2007-08Adriana Zamecnikova
Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653, Kuwait

(Note : for Links provided by Atlas : click)


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 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


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..


This paper should be referenced as such :
Zamecnikova, A
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):347-348.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(3;4)(p21;q34)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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