t(1;21)(p36;q22) RUNX1/PRDM16

2006-03-01   Marian Stevens-Kroef 

1.Clinical Cytogeneticist, UMC St. Radboud, Dept. Human Genetics, Div. Cytogenetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Acute myeloid leukemia (AML or AML: acute myeloid leukemia) and myelodysplastic syndromes (MDS); 2 of 5 cases at least are secondary to toxic exposure


Only 5 cases described so far one with features identical to a case of , and a case of t(19;21)(q13.4;q22)


Two of the reported cases are therapy-related, in another case, AML occurred about 50 years after radiation exposure from nuclear explosions.
Atlas Image


poor; median survival 6 months


Atlas Image
FISH analysis using RUNX1 (red) probe. Three signals for RUNX1 are observed; on the normal chromosome 21, and on the derivative chromosomes 1 and 21.

Additional anomalies

Genes Involved and Proteins

The gene involved in 1p36 is unknown
Gene name
PRDM16 (PR domain containing 16)
This gene is also involved in the t(1;3)(p36;q21) (AML/MDS)
Protein description
Zinc-finger protein, containing two DNA binding domains and a PRDI-BF1 (positive regulatory domain I binding factor 1/ RIZ (retinoblastoma-interacting zinc finger protein) homologous (PR) domain at the N-terminus.
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Dna rna description
transcription is from telomere to centromere
Protein description
contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes

Result of the Chromosomal Anomaly


Two different chimeric transcripts have been identified. One contains the exon 1 to 6 of RUNX1 including the runt domain, fused to sequences derived from intron 1 of PRDM16. The other fusion transcript contains exons 1 to 6 of RUNX1 and almost the entire PRDM16 coding region (see figure below).
Atlas Image
Schematic representation of RUNX1 and PRDM16 (fusion) genes.
Upper panel: normal genomic structures of PRDM16 and RUNX1 (non-coding parts in bleu). A cryptic exon, residing within intron 1 of PRDM16, is indicated in green (speckled).
Lower panel: structure of RUNX1-PRDM16 fusion transcripts. Exons are numbered on the basis of consensus gene sequences. Exon sizes are not to scale.




Pubmed IDLast YearTitleAuthors
108459432000A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations.Hromas R et al
97635731998CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.Roulston D et al
160156452005Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21)(p36;q22).Sakai I et al
165983042006Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.Stevens-Kroef MJ et al


Fusion gene

RUNX1/PRDM16 RUNX1 (21q22.12) PRDM16 (1p36.32) M t(1;21)(p36;q22)


Subtle cytogenetic abnormality, easy to confuse with a del(21)(q22) , may be missed in poor quality metaphases.
Atlas Image
Partial GTG-banded karyotype of t(1;21)(p36;q22)


Marian Stevens-Kroef

t(1;21)(p36;q22) RUNX1/PRDM16

Atlas Genet Cytogenet Oncol Haematol. 2006-03-01

Online version: http://atlasgeneticsoncology.org/haematological/1186/t(1;21)(p36;q22)-runx1-prdm16

Historical Card

2000-02-01 t(1;21)(p36;q22) RUNX1/PRDM16 by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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