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t(11;21)(p14;q22) RUNX1/KIAA1549L

Written2014-10Akihiro Abe
Department of Hematology, Fujita Health University School of Medicine, 98 Dengakugakubo Toyoake, Aichi 470-1192, Japan

Abstract Review on t(11;21)(p14;q22) RUNX1/KIAA1549L, with data on clinics and the genes implicated.

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1703
 
  G-banded partial karyotype of a patient with a t(11;21)(p14;q22). Arrows indicate derivative chromosomes.

Clinics and Pathology

Disease Acute myeloid leukemia (AML), AML-M1 by FAB subtype
Phenotype / cell stem origin CD13, CD19, CD33, CD34, and HLA-DR were positive.
Epidemiology This is a rare chromosomal rearrangement. A case of MDS with t(11;21)(p14;q22) involving the RUNX1 locus with RUNX1 gene amplification (Moosavi et al., 2009) and a case of AML-M4 with t(11;21)(p13;q22) (Arber et al., 2002) were previously reported. This case is only one AML patient characterized at molecular level to date (Abe et al., 2012).
Clinics A 78-year-old man suffering from bleeding tendency and fatigue with dyspnea for one month was diagnosed as AML.
Cytology Blast morphology showed minimal differentiation implicating AML M1. Leukemia cells were weakly positive for myeloperoxidase and negative for esterase.
 
Leukemic cells had large nuclei and little cytoplasm without azure granules.
Pathology Bone marrow examination at diagnosis showed hypocellular marrow with 57% leukemic blasts.
Treatment The patient received two courses of remission induction chemotherapy with daunorubicin and cytarabine, however, a complete remission was not achieved. The leukemia cells were slow-growing in the early period after diagnosis, so that he received 11 cycles of low dose cytarabine after induction failure and lived for 2 years. He was died from progression of leukemia possible with intracranial hemorrhage.

Genes involved and Proteins

Gene Name KIAA1549L
Location 11p13-14
Note KIAA1549L is also known as C11ORF41 or C11ORF69.
The function of KIAA1549L is not known. Northern blot analysis of several human tissues detected two transcripts of 11 and 7.9 kb in brain (Gawin et al., 1999). KIAA1549L indicates a KIAA1549-like ortholog. KIAA1549 is known as a fusion partner of BRAF in pilocytic astrocytomas (Jones et al., 2008).
Dna / Rna The KIAA1549L gene contains 20 exons spanning 132 kb of genomic DNA. Four transcripts are known. Transcription orientation: telomere to centromere.
Protein The predicted KIAA1549L proteins contain 1849 amino acids, 199 kDa.
Gene Name RUNX1
Location 21q22
Dna / Rna Transcription orientation: telomere to centromere.
Protein The predicted RUNX1 proteins contain 250, 453 and 480 amino acids designated as RUNX1a, RUNX1b and RUNX1c, respectively. All 3 proteins contain the 128-amino acid Runt domain, but RUNX1a does not contain a transcriptional activation domain of C-terminal region.

Result of the chromosomal anomaly

Hybrid gene
 
Description 5' RUNX1-KIAA1549L 3'.
Transcript Two types of in-frame RUNX1-KIAA1549L fusion transcripts were detected. One was a fusion between exon 5 of RUNX1 and exon 13 of KIAA1549L (Type 1) and the other was between exon 6 of RUNX1 and exon 13 of KIAA1549L (Type 2). A reciprocal KIAA1549L-RUNX1 fusion was not detected. Both fusion transcripts include the region encoding Runt homology domain of RUNX1.
  

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.

Bibliography

A novel RUNX1-C11orf41 fusion gene in a case of acute myeloid leukemia with a t(11;21)(p14;q22).
Abe A, Katsumi A, Kobayashi M, Okamoto A, Tokuda M, Kanie T, Yamamoto Y, Naoe T, Emi N.
Cancer Genet. 2012 Nov;205(11):608-11. doi: 10.1016/j.cancergen.2012.10.001. Epub 2012 Oct 24.
PMID 23102734
 
Therapy-related acute myeloid leukemia/myelodysplasia with balanced 21q22 translocations.
Arber DA, Slovak ML, Popplewell L, Bedell V, Ikle D, Rowley JD; International Workshop on Leukemia Karyotype and Prior Therapy.
Am J Clin Pathol. 2002 Feb;117(2):306-13.
PMID 11863228
 
A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1.
Gawin B, Niederfuhr A, Schumacher N, Hummerich H, Little PF, Gessler M.
Genome Res. 1999 Nov;9(11):1074-86.
PMID 10568747
 
Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.
Jones DT, Kocialkowski S, Liu L, Pearson DM, Backlund LM, Ichimura K, Collins VP.
Cancer Res. 2008 Nov 1;68(21):8673-7. doi: 10.1158/0008-5472.CAN-08-2097.
PMID 18974108
 
Marker chromosomes are a significant mechanism of high-level RUNX1 gene amplification in hematologic malignancies.
Moosavi SA, Sanchez J, Adeyinka A.
Cancer Genet Cytogenet. 2009 Feb;189(1):24-8. doi: 10.1016/j.cancergencyto.2008.10.001.
PMID 19167608
 

Citation

This paper should be referenced as such :
Akihiro Abe
t(11;21)(p14;q22) RUNX1/KIAA1549L
Atlas Genet Cytogenet Oncol Haematol. 2015;19(5):349-351.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1121p14q22ID1703.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;21)(p14;q22) RUNX1/KIAA1549L

External links

RUNX1 (21q22.12) KIAA1549L (11p13)

RUNX1 (21q22.12) KIAA1549L (11p13)

Mitelman databaset(11;21)(p14;q22) [Case List]    t(11;21)(p14;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseRUNX1/KIAA1549L [MCList]  RUNX1 (21q22.12) KIAA1549L (11p13)
TICdbRUNX1/KIAA1549L  RUNX1 (21q22.12) KIAA1549L (11p13)
 
Disease databaset(11;21)(p14;q22) RUNX1/KIAA1549L
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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