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

Written2006-03Marian Stevens-Kroef
Clinical Cytogeneticist, UMC St. Radboud, Dept. Human Genetics, Div. Cytogenetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
This article is an update of :
2000-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(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 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1186
Note Subtle cytogenetic abnormality, easy to confuse with a del(21)(q22) , may be missed in poor quality metaphases.
  Partial GTG-banded karyotype of t(1;21)(p36;q22)

Clinics and Pathology

Disease Acute myeloid leukemia (AML or AML: acute myeloid leukemia) and myelodysplastic syndromes (MDS); 2 of 5 cases at least are secondary to toxic exposure
Note Only 5 cases described so far one with features identical to a case of , and a case of t(19;21)(q13.4;q22)
Etiology Two of the reported cases are therapy-related, in another case, AML occurred about 50 years after radiation exposure from nuclear explosions.
Prognosis poor; median survival 6 months


  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 -7, del(7q)

Genes involved and Proteins

Note The gene involved in 1p36 is unknown
Gene NamePRDM16 (PR domain containing 16)
Location 1p36.32
Note This gene is also involved in the t(1;3)(p36;q21) (AML/MDS)
Protein 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 NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Dna / Rna transcription is from telomere to centromere
Protein 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

Hybrid gene
Note 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).
  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.
Description 5'RUNX1- 3'PRDM16

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.


A novel syndrome of radiation-associated acute myeloid leukemia involving AML1 gene translocations.
Hromas R, Shopnick R, Jumean HG, Bowers C, Varella-Garcia M, Richkind K
Blood. 2000 ; 95 (12) : 4011-4013.
PMID 10845943
CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy.
Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD
Blood. 1998 ; 92 (8) : 2879-2885.
PMID 9763573
Novel RUNX1-PRDM16 fusion transcripts in a patient with acute myeloid leukemia showing t(1;21)(p36;q22).
Sakai I, Tamura T, Narumi H, Uchida N, Yakushijin Y, Hato T, Fujita S, Yasukawa M
Genes, chromosomes & cancer. 2005 ; 44 (3) : 265-270.
PMID 16015645
Identification of truncated RUNX1 and RUNX1-PRDM16 fusion transcripts in a case of t(1;21)(p36;q22)-positive therapy-related AML.
Stevens-Kroef MJ, Schoenmakers EF, van Kraaij M, Huys E, Vermeulen S, van der Reijden B, van Kessel AG
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (6) : 1187-1189.
PMID 16598304


This paper should be referenced as such :
Stevens-Kroef, M
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):194-196.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(1;21)(p36;q22). Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):32-32.

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes RUNX1

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;21)(p36;q22) RUNX1/PRDM16

External links

RUNX1 (21q22.12) PRDM16 (1p36.32)

Mitelman databaset(1;21)(p36;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [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]
Mitelman databaseRUNX1::PRDM16 [MCList]  RUNX1 (21q22.12) PRDM16 (1p36.32)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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