Download Leukaemia Section t(11;17)(p15;p13) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(11;17)(p15;p13)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: October 2008
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1117p15p13ID2134.html
DOI: 10.4267/2042/44587
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
No anomaly was found in the karyotype, apart a possible 17p deletion. FISH revealed the translocation: BAC RP11-186B7 (green signal)
hybridized to both chromosomes 17, indicating that it is centromeric to the translocation breakpoint. BAC RP1-4G17 (red signal)
hybridized to both chromosomes 17 as well as one chromosome 11, indicating that the translocation breakpoint on 17p is within this BAC
clone. The split red signal is also evident in an interphase cell (Reprinted by permission from Macmillan Publishers Ltd: Leukemia, 2007
Apr;21(4):842, Reader et al., copyright (2007)).
appeared normal, with a doubt on one chromosome 17:
Cryptic translocation.
Clinics and pathology
Disease
Genes involved and proteins
Acute myeloid leukaemia
Epidemiology
NUP98
Only one case to date, a 42 year old male patient
(Reader et al., 2007).
Location
11p15
Protein
Nucleoporin: associated with the nuclear pore complex.
Role in nucleocytoplasmic transport processes.
Evolution
The patient achieved complete remission for 11
months, but relapsed and died 3 months after.
PHF23
Cytogenetics
Location
17p13
Cytogenetics morphological
Sole anomaly; as a matter of fact, the karyotype
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(10)
742
t(11;17)(p15;p13)
Huret JL
Fusion protein
Protein
Recently discovered gene, which possess a plant
homeodomain. Possible effect on chromatin structure
and transcriptional regulation.
Description
NH2-term NUP98 including the Phe-Gly repeats, the
GLEB domain fused to the coiled-coil domain and the
plant homeodomain of PHF23 C-term.
Result of the chromosomal
anomaly
References
Reader JC, Meekins JS, Gojo I, Ning Y. A novel NUP98PHF23 fusion resulting from a cryptic translocation
t(11;17)(p15;p13) in acute myeloid leukemia. Leukemia. 2007
Apr;21(4):842-4
Hybrid gene
Transcript
NUP98 exon 13 fused in frame to PHF23 exon 4.
This article should be referenced as such:
Huret JL. t(11;17)(p15;p13). Atlas Genet Cytogenet Oncol
Haematol. 2009; 13(10):742-743.
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(10)
743