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t(1;21)(p32;q22) RUNX1/?

Written2003-06Charles D Bangs
Cytogenetics Laboratory, Rm. H1517, Stanford Hospital, Clinics, 300 Pasteur Dr. Stanford, CA 94305, USA

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1259

Clinics and Pathology

Disease Acute myelomonoblastic leukemia (M4 by FAB subtype)
Phenotype / cell stem origin CD34+, DR+, CD117+, CD15+, CD13+, CD33+, MPO+, CD64+ blast population consistent with AML-M4 by FAB subtype.
Etiology Unknown, reported agricultural chemical exposure in single case.
Epidemiology Single case involving 25 year old male.
Clinics Patient presented w/o palpable adenopathy, gingival hyperplasia, systolic murmur, hepatosplenomegaly and petechia. WBC was normal with anemia and thrombocytopenia.
Cytology Predominately large blasts with moderate cytoplasm, smooth nuclear chromatin, and prominent nucleoli, folded nuclear contours present in blast subset.
Treatment Patient lost to treatment.
Evolution Unknown
Prognosis Unknown


Cytogenetics Morphological Single case presented with second copy of der(1)t(1;21).
  Chromosome and FISH images showing :
  • 1) partial karyotype and ideogram of t(1;21)(p32;q22) including a second copy of the der(1)t(1;21) present in the clone; and
  • 2) metaphase FISH showing red AML1 signal on the two copies of the der(t)t(1;21), the der(21)t(1;21) and the normal 21 homolog. Green TEL signal is present of both 12 homologs indicating that no cryptic TEL/AML1 gene rearrangement is present. The adjacent interphase nucleus shows four AML1 signals and two TEL signals consistent with the metaphase pattern.
  • Cytogenetics Molecular AML1 fusion suggested by partial translocation of 500kb probe signal to der(1)t(1;21).

    Genes involved and Proteins

    Note The putative 1p32 gene partner is unknown. Cryptic t(12;21) TEL(ETV6)/AML1 rearrangement is unlikely due to normal TEL metaphase FISH signal using commercial TEL/AML1 probe.
    Gene NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
    Location 21q22.12
    Dna / Rna AML1 is oriented 3' toward the centromere.
    Protein Contains a runt domain and at C-term a tranactivation domain; forms heterodimers, widely expressed; nuclear localization; 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.
    Case Report t(1;21)(p32;q22) as a non-random abnormality in AML M4


    A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia.
    Cherry AM, Bangs CD, Jones P, Hall S, Natkunam Y
    Cancer genetics and cytogenetics. 2001 ; 129 (2) : 155-160.
    PMID 11566347


    This paper should be referenced as such :
    Bangs, CD
    Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):183-184.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Translocations implicated (Data extracted from papers in the Atlas)

     t(1;21)(p32;q22) RUNX1/?

    External links

    Mitelman databaset(1;21)(p32;q22)
    arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [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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