Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(17;21)(q11.2;q22) RUNX1/?

Written2000-02Jean-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
Atlas_Id 1181

Clinics and Pathology

Disease acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS); de novo AML and treatment related leukemias (t-AML)
Phenotype / cell stem origin one M2, one treatment related RAEBt/M4, one t-AML
Etiology two cases are secondary to treatment with topoisomerase II inhibitors for Hodgkin disease and neuroblastoma
Epidemiology 3 cases to date; 1M/2F, aged 2yrs, 39 yrs and 76 yrs
Prognosis unknown


Additional anomalies sole anomaly in one case; one case was also -7, +8, one case showed also a t(11;12)(p15;q13) with NUP98 rearrangement

Genes involved and Proteins

Note the gene involved in 17q11 is unknown; the breakpoint on chromosome 17 is between the loci for NF1 and RARA
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
Description 5 prime AML1-3 prime unknown; breakpoint in intron 5 or 6 of AML1
Fusion Protein
Description the N-term is provided by AML1, as in the t(3;21) and in the t(8;21)associated with AMLs, whereas, in the ALL with t(12;21), the fusion protein comprises the C-term part of AML1.

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(17;21)(q11.2;q22) as a sole aberration in acute myelomonocytic leukemia


NUP98 gene rearrangements in leukemia detected by fluorescence in situ hybridization (FISH).
Kobzev YN, Rowley JD.
Blood 1999; 94 Suppl 1: Abst 2221.
Secondary raeb-t associated with t(17;21) in a child treated by VP16 for neuroblastoma.
LySunnaram B, Gandemer V, Le Mee F, Cayuela JM, Edan C, Le Gall E, Goasguen JE
Blood. 1999 ; 94 (numero Suppl 1).
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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):37-37.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes RUNX1

Translocations implicated (Data extracted from papers in the Atlas)

 t(17;21)(q11.2;q22) RUNX1/?

External links

Mitelman databaset(17;21)(q11.2;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]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 7 15:08:22 CEST 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us