t(7;15)(q22;q14) CUX1/NUTM1 a novel fusion
2015-12-01 Ibrahima Ba , Wendy Cuccuini , Emmanuelle Clappier Affiliation1.Hematology Laboratory, APHP, Hôpital Saint-Louis, Paris, France. [email protected]; [email protected]; [email protected]
2.Hematology Laboratory, APHP, Hôpital Saint-Louis, Paris, France. [email protected]; [email protected]; [email protected]
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
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)
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).
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
Description
CUX1 exon 20 is fused in frame with NUTM1 exon 5.
Transcript
The CUX1-NUTM1 fusion transcript was amplified.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 23212519 | 2013 | CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia. | McNerney ME et al |
| 25190083 | 2014 | CUX1, a haploinsufficient tumour suppressor gene overexpressed in advanced cancers. | Ramdzan ZM et al |
| 21330321 | 2011 | 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 et al |
Summary
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
