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t(11;11)(q13;q23) KMT2A/ARHGEF17

Written2009-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1541

Clinics and Pathology

Epidemiology The involvement of MLL in 11q23 and ARHGEF17 in 11q13 was ascertained in only 1 case (Teuffel et al., 2005). It was an unusual case of treatment-related MLL rearrangement in the absence of leukemia.
Clinics The case reported by Teuffel et al. (2005), was a five-year-old girl, who experienced an acute myeloid leukemia (AML) with a variant t(8;21) and achieved remission under treatment. Four years later, a follow-up control of her karyotype revealed a t(11;11)(q13;q23), in the absence of any sign of leukemia in the bone marrow, over a period of 30 months following the discover of the t(11;11).
Other cases of t(11;11)(q13;q23) were:
A 13-year-old girl, who have had a M4eo AML with inv(16)(p13q22). Eleven month later, a t(11;11)(q13;q23) was found, but bone marrow remained normal; however, an overt M5b AML was diagnosed 6 months later (Leblanc et al., 1994). This case resembles the case of Teuffel.
There was also the case of a 69-year-old male patient with a primary M4 AML, who died 5 months after diagnosis, and an AML (not classified) female patient (Testa et al., 1985; Mackinnon and Campbell, 2007).
Cytology In the case reported by Teuffel, the MLL-ARHGEF17 was only seen in the myeloid lineage. The myeloid differentiation was not perturbed by the presence of the chimeric protein, and normal mature myeloid cells carrying the chimeric protein were found in normal amounts.

Cytogenetics

Cytogenetics Morphological The t(11;11) was apparently the sole anomaly in 3 of the 4 cases; a complex karyotype with del(5q), a marker chromosome, and other anomalies was found in the case reported by Mackinnon and Campbell, 2007.

Genes involved and Proteins

Gene NameARHGEF17 (Rho guanine nucleotide exchange factor 17)
Location 11q13.4
Protein Guanine nucleotide exchange factor (GEF) for RhoA GTPases. Involved in transduction of various signals into downstream signaling cascades.
Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 36 exons, multiple transcripts 13-15 kb.
Protein 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a CXXC domain), a DNA methyl transferase motif, a bromodomain. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus, called MLL-N and MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID. MLL is a transcriptional regulatory factor. MLL can be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development.

Result of the chromosomal anomaly

Hybrid gene
Description The fusion between MLL and ARHGEF17 occurred in introns 12 and 1 respectively.
  

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

Translocation t(11;11)(q13;q23) and HRX gene rearrangement associated with therapy-related leukemia in a child previously treated with VP16.
Leblanc T, Hillion J, Derre J, Le Coniat M, Baruchel A, Daniel MT, Berger R.
Leukemia. 1994 Oct;8(10):1646-8.
PMID 7934159
 
Dicentric chromosomes and 20q11.2 amplification in MDS/AML with apparent monosomy 20.
Mackinnon RN, Campbell LJ.
Cytogenet Genome Res. 2007;119(3-4):211-20. Epub 2008 Feb 1.
PMID 18253031
 
Chromosomal alterations in acute leukemia patients studied with improved culture methods.
Testa JR, Misawa S, Oguma N, Van Sloten K, Wiernik PH.
Cancer Res. 1985 Jan;45(1):430-4.
PMID 3855285
 
Clonal expansion of a new MLL rearrangement in the absence of leukemia.
Teuffel O, Betts DR, Thali M, Eberle D, Meyer C, Schneider B, Marschalek R, Trakhtenbrot L, Amariglio N, Niggli FK, Schafer BW.
Blood. 2005 May 15;105(10):4151-2.
PMID 15867425
 

Citation

This paper should be referenced as such :
Huret, JL
t(11;11)(q13;q23)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):317-318.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1111q13q23ID1541.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;11)(q13;q23) KMT2A/ARHGEF17

External links

Mitelman databaset(11;11)(q13;q23) [Case List]    t(11;11)(q13;q23) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9807/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9813/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9920/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(11;11)(q13;q23) KMT2A/ARHGEF17
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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