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t(2;4)(p23;q25-q35)

Written2002-12Kathleen E Richkind
Genzyme Genetics, 2000 Vivigen Way, Santa Fe, NM 87505, USA

(Note : for Links provided by Atlas : click)

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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1235

Clinics and Pathology

Disease myeloid lineage, described in five cases :
  • myelodysplastic syndromes (MDS) to AML-M2 (two cases).
  • De novo acute myeloid leukemia (AML)-M2 (two cases).
  • Agnogenic myeloid metaplasia (AMM) (one case).
  • Epidemiology 3F/2M, AGE 41-81 yrs (average = 67.8 yrs)
    Prognosis Two patients with AML achieved complete remission.

    Cytogenetics

    Note In all five patients, no cytogenetically normal cells were observed at the time of the diagnostic cytogenetic study.
    Additional anomalies The four patients with AML had no additional abnormalities; the patient with AMM also had an interstitial deletion of 13q. Metaphase FISH analysis was performed on the AMM patient, using whole chromosome paints for chromosomes 2 and 4. FISH revealed a complex insertion of chromosome 4 into chromosome 2, with resultant 2p23;4q31 fusion and deletion of 2p23->2pter.
    Variants Metaphase FISH analysis of one patient with AML also suggested deletion of 2p23->2pter.

    Genes involved and Proteins

    Note Deletion of 2p has been suggested as a recurrent abnormality in AML.

    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

    Novel translocation (2;4) with consistent involvement of 2p23 in acute nonlymphocytic leukemia (M2).
    Farag S, Challis J, White J, Garson OM
    Cancer genetics and cytogenetics. 1992 ; 58 (1) : 48-51.
    PMID 1728949
     
    Translocation (2;4)(p23;q25): an additional case of a new recurrent anomaly in acute myeloid leukemia.
    Shi G, Weh HJ, Hossfeld DK
    Cancer genetics and cytogenetics. 1993 ; 70 (2) : 140-141.
    PMID 8242596
     
    del(2)(p23) as a sole abnormality in a case of acute myeloid leukemia.
    Sundareshan TS, Madhumathi DS, Appaji L
    Cancer genetics and cytogenetics. 2002 ; 134 (2) : 172-174.
    PMID 12034535
     

    Citation

    This paper should be referenced as such :
    Richkind, KE
    t(2;4)(p23;q25-q35)
    Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):40-40.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Anomalies/t0204p23q25-q35ID1235.html


    Translocations implicated (Data extracted from papers in the Atlas)

     t(2;4)(p23;q25-q35)

    External links

    Mitelman databaset(2;4)(p23;q25-q35) [Case List]    t(2;4)(p23;q25-q35) [Association List] Mitelman database (CGAP - NCBI)
    arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
    arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
    arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
     
     
    Disease databaset(2;4)(p23;q25-q35)
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed
    All articlesautomatic search in PubMed


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