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

2015-12-01   Ibrahima Ba , Wendy Cuccuini , Emmanuelle Clappier 

1.Hematology Laboratory, APHP, Hôpital Saint-Louis, Paris, France. ibrahima.ba@aphp.fr; wendy.cuccuini@aphp.fr; emmanuelle.clappier@aphp.fr
2.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.

Clinics and Pathology

Disease

B-cell precursor acute lymphoblastic leukemia (BCP-ALL)

Phenotype stem cell 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

Atlas Image
der(7)t(7;15)(q22;q14)dup(7)(q11q22)del(7)(p11); probes: wcp7 green, wcp15 red.

Cytogenetics morphological

Unbalanced t(7;15)
der(7)t(7;15)(q22;q14)dup(7)(q11q22)del(7)(p11)
Atlas Image
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 name
CUX1 (cut-like homeobox 1)
Location
7q22.1
Dna rna description
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 description
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 name
NUTM1 (nuclear protein in testis)
Location
15q14
Dna rna description
NUTM1 locus spans approximately 14 kb and contains 7 exons.
Protein description
NUTM1 is a 120 kDa nuclear and cytoplasmic protein. Its function is still unknown.

Result of the Chromosomal Anomaly

Note

CUX1/NUTM1
Atlas Image

Description

CUX1 exon 20 is fused in frame with NUTM1 exon 5.

Transcript

The CUX1-NUTM1 fusion transcript was amplified.

Bibliography

Pubmed IDLast YearTitleAuthors
232125192013CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia.McNerney ME et al
251900832014CUX1, a haploinsufficient tumour suppressor gene overexpressed in advanced cancers.Ramdzan ZM et al
213303212011The 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 et al

Summary

Atlas Image
der(7)t(7;15)(q22;q14), R-band analysis.

Citation

Ibrahima Ba ; Wendy Cuccuini ; Emmanuelle Clappier

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

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1272/t(7;15)(q22;q14)

External Links