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t(7;15)(q22;q14) CUX1/NUTM1 a novel fusion

Written2015-12Ibrahima Ba, Wendy Cuccuini, Emmanuelle Clappier
Hematology Laboratory, APHP, Hôpital Saint-Louis, Paris, France. ibrahima.ba@aphp.fr; wendy.cuccuini@aphp.fr; emmanuelle.clappier@aphp.fr

Abstract A novel CUX1-NUTM1 fusion identified in B-cell precursor acute lymphoblastic leukemia.

Keywords ALL-B; CUX1; NUTM; translocation

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1272
 
  der(7)t(7;15)(q22;q14), R-band analysis.

Clinics and Pathology

Disease B-cell precursor acute lymphoblastic leukemia (BCP-ALL)
Phenotype / cell stem origin Pro-B immunophenotype (B-I EGIL cIassification): CD19+, CD22+, CD79a+, partial CD20+, CD10-, cμ- and aberrant expression of CD33.
Epidemiology Only one case described, a 15-year-old female.

Cytogenetics

Cytogenetics Morphological Unbalanced t(7;15)
der(7)t(7;15)(q22;q14)dup(7)(q11q22)del(7)(p11)
 
  der(7)t(7;15)(q22;q14)dup(7)(q11q22)del(7)(p11); probes: wcp7 green, wcp15 red.
 
  der(7)t(7;15)(q22;q14)dup(7)(q11q22)del(7)(p11).
Additional anomalies There was no additional anomaly.

Genes involved and Proteins

Note Fusion CUX1-NUTM1
Gene NameCUX1 (cut-like homeobox 1)
Location 7q22.1
Dna / Rna CUX1 locus spans approximately 468 kb and contains 24 exons. CUX1 has been reported as a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia (McNerney, 2013). It has also been involved in a gene fusion with FGFR1 (Wasag, 2011).
Protein CUX1 is a 164 kDa nuclear protein. This protein is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progression (Ramdzan ZM, 2014). Several different isoforms encoded by alternatively spliced transcript variants have been identified. [provided by RefSeq, Feb 2011].
Gene NameNUTM1 (nuclear protein in testis)
Location 15q14
Dna / Rna NUTM1 locus spans approximately 14 kb and contains 7 exons.
Protein NUTM1 is a 120 kDa nuclear and cytoplasmic protein. Its function is still unknown.

Result of the chromosomal anomaly

Hybrid gene
Note CUX1/NUTM1
 
Description CUX1 exon 20 is fused in frame with NUTM1 exon 5.
Transcript The CUX1-NUTM1 fusion transcript was amplified.
  

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

CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia.
McNerney ME, Brown CD, Wang X, Bartom ET, Karmakar S, Bandlamudi C, Yu S, Ko J, Sandall BP, Stricker T, Anastasi J, Grossman RL, Cunningham JM, Le Beau MM, White KP.
Blood 2013; 121(6):975-83.
PMID 23212519
 
CUX1, a haploinsufficient tumour suppressor gene overexpressed in advanced cancers.
Ramdzan ZM and Nepveu A.
Nat Rev Cancer 2014; 14(10):673-82. REVIEW
PMID 25190083
 
The kinase inhibitor TKI258 is active against the novel CUX1-FGFR1 fusion detected in a patient with T-lymphoblastic leukemia/lymphoma and t(7;8)(q22;p11).
Wasag B, Lierman E, Meeus P, Cools J, Vandenberghe P.
Haematologica 2011; 96(6):922-6.
PMID 21330321
 

Citation

This paper should be referenced as such :
Ba I, Cuccuini W, Clappier, E
t(7;15)(q22;q14) CUX1/NUTM1 a novel fusion;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0715q22q14ID1272.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(7;15)(q22;q14) CUX1/NUTM1

External links

Mitelman databaset(7;15)(q22;q14) [Case List]    t(7;15)(q22;q14) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(7;15)(q22;q14) CUX1/NUTM1 a novel fusion
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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