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

2003-06-01   Charles D Bangs 

1.Cytogenetics Laboratory, Rm. H1517, Stanford Hospital, Clinics, 300 Pasteur Dr. Stanford, CA 94305, USA

Clinics and Pathology


Acute myelomonoblastic leukemia (M4 by FAB subtype)

Phenotype stem cell origin

CD34+, DR+, CD117+, CD15+, CD13+, CD33+, MPO+, CD64+ blast population consistent with AML-M4 by FAB subtype.


Unknown, reported agricultural chemical exposure in single case.


Single case involving 25 year old male.


Patient presented w/o palpable adenopathy, gingival hyperplasia, systolic murmur, hepatosplenomegaly and petechia. WBC was normal with anemia and thrombocytopenia.


Predominately large blasts with moderate cytoplasm, smooth nuclear chromatin, and prominent nucleoli, folded nuclear contours present in blast subset.


Patient lost to treatment.






Atlas Image
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 morphological

    Single case presented with second copy of der(1)t(1;21).

    Cytogenetics molecular

    AML1 fusion suggested by partial translocation of 500kb probe signal to der(1)t(1;21).

    Genes Involved and Proteins

    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 name
    RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
    Dna rna description
    AML1 is oriented 3 toward the centromere.
    Protein description
    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.


    Pubmed IDLast YearTitleAuthors
    115663472001A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia.Cherry AM et al


    Charles D Bangs

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

    Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

    Online version: http://atlasgeneticsoncology.org/haematological/1259/t(1;21)(p32;q22)

    External Links