t(11;12)(q23;q13) KMT2A/SARNP

2005-08-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

M4 acute myeloid leukaemia (AML)

Epidemiology

only 1 case to date: a 7 mth old boy

Prognosis

no data

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Dna rna description
36 exons, spans over 100kb, ORF 12kb.
Protein description
3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain.
Gene name
SARNP (cytokine induced protein 29 kDa)
Location
12q13.2
Protein description
210 amino acids, 29 kDa;contains from N term to C term a SAP domain and 2 nuclear localization domains

Result of the Chromosomal Anomaly

Description

5 MLL - 3 CIP29 including the 9 first exons of MLL, and nearly the entire CIP29The fusion protein includes from N term to C term the AT hooks and the methyltransferase domain of MLL and the SAP domain and the C term nuclear localization domains of CIP29.

Bibliography

Pubmed IDLast YearTitleAuthors
159242602005Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest.Fukuda S et al
119226082002Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29.Fukuda S et al
152848552004A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia.Hashii Y et al

Summary

Fusion gene

KMT2A/SARNP KMT2A (11q23.3) SARNP (12q13.2) COF 1848 1849

Citation

Jean-Loup Huret

t(11;12)(q23;q13) KMT2A/SARNP

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1400/t(11;12)(q23;q13)-kmt2a-sarnp

External Links