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t(9;10)(q34;q22) ZMIZ1/ABL1

Written2013-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(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 1520

Clinics and Pathology

Note Only five cases to date have been described with a t(9;10)(q34;q22). Two cases of acute myeloid leukemia (AML) are herein excluded from the study, because they are likely to represent another entity, with perhaps different genes involved. These are two patients aged 44 years (1 female and 1 male), one with a M1-AML, and the other one with a M3-AML and the classical t(15;17)(q22;q21), both with a complex karyotype and no further data (Sato et al., 1995; Schoch et al., 1996).
Disease B-cell acute lymphoblastic leukemia (B-ALL).
Phenotype / cell stem origin One case was phenotyped as a CD10+ B-ALL.
Epidemiology Three cases to date, 1 male / 2 female patients, all are paediatric cases so far, one was a 1.5 year old baby (Cooley et al., 2007; Rabin et al., 2008; Soler et al., 2008).
Prognosis Scarce data, no follow-up; one case was noted as being in complete remission.

Cytogenetics

Cytogenetics Morphological Additional abnormalities were found in the three cases (complex karyotype in two cases). A del(13q) was found in one case.

Genes involved and Proteins

Gene NameABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1)
Location 9q34.12
Protein 1130-1143 amino acids; ABL1 is composed from N-term to C-term of a CAP, a SRC homology 3 (SH3), SH2 and SH1 tyrosine kinase domains, a conserved PXXP motifs to mediate protein-protein interactions, three nuclear localization signal (NLS) motifs, a DNA-binding domain, a globular (G).actin-binding domain, one nuclear export signal (NES), and a conserved filamentous actin-binding domain. Regulates endocytosis, epithelial-to.mesenchymal transition, cell polarity, adhesion, migration and invasion; in response to cellular stress, including DNA damage, ABL1 induces growth arrest and/or apoptosis (review in Greuber et al., 2013).
Somatic mutations Apart from the well known role of ABL1 in leukemias, ABL1 has been found overexpressed in a small percentage of breast carcinomas, lung squamous cell carcinomas, and uterine corpus carcinomas.
Gene NameZMIZ1 (zinc finger MIZ-type containing 1)
Location 10q22.3
Protein 1067 amino acids (aa). ZMIZ1 is composed from N-term to C-term of a proline-rich region (aa 363-555 (334-555 according to Swiss-Prot)), a nuclear localization signal sequence (aa 691-713), a Miz domain (aa 738-790 (Zn finger 727-804 according to Swiss-Prot)), and a proline-rich region (transcriptional activation domain) (aa 824-1067 ((867-1002 according to Swiss-Prot)). The central region between aa 556 and 790 is the primary binding region for AR (Sharma et al., 2003). Sequence specific DNA binding protein. Transcriptional coactivator related to members of the proteatggactin inhibitor of activated STAT (PIAS) family. Co-activator of AR (androgen receptor). Increases ligand-dependent transcriptional activity of AR, SMAD3, and TP53. ZMIZ1 is able to enhance the sumoylation of AR. ZMIZ1 cooperates with NOTCH1 to regulate the C-MYC pathway. ZMIZ1 is overexpressed in a subset of T-ALL (Rakowski et al., 2013).

Result of the chromosomal anomaly

Hybrid gene
Note A ZMIZ1/ABL1 hybrid gene was searched for and detected in one case to date (Soler et al., 2003).
Description 5' ZMIZ1-3'ABL1. The exon 14 of ZMIZ1 is fused to exon 2 of ABL1.
  
Fusion Protein
 
  t(9;10)(q34;q22) ZMIZ1/ABL1 protein.
Description 197 kDa, 1812 amino acids fusion protein, containing the N-term proline-rich domain of ZMIZ1 and most of ABL1.
Oncogenesis ZMIZ1/ABL1 may encode a constitutively activated tyrosine kinase.
  

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

Prognostic significance of cytogenetically detected chromosome 21 anomalies in childhood acute lymphoblastic leukemia: a Pediatric Oncology Group study.
Cooley LD, Chenevert S, Shuster JJ, Johnston DA, Mahoney DH, Carroll AJ, Devidas M, Linda SB, Lauer SJ, Camitta BM.
Cancer Genet Cytogenet. 2007 Jun;175(2):117-24.
PMID 17556067
 
Role of ABL family kinases in cancer: from leukaemia to solid tumours.
Greuber EK, Smith-Pearson P, Wang J, Pendergast AM.
Nat Rev Cancer. 2013 Aug;13(8):559-71. doi: 10.1038/nrc3563. Epub 2013 Jul 11. (REVIEW)
PMID 23842646
 
Clinical utility of array comparative genomic hybridization for detection of chromosomal abnormalities in pediatric acute lymphoblastic leukemia.
Rabin KR, Man TK, Yu A, Folsom MR, Zhao YJ, Rao PH, Plon SE, Naeem RC.
Pediatr Blood Cancer. 2008 Aug;51(2):171-7. doi: 10.1002/pbc.21488.
PMID 18253961
 
Convergence of the ZMIZ1 and NOTCH1 pathways at C-MYC in acute T lymphoblastic leukemias.
Rakowski LA, Garagiola DD, Li CM, Decker M, Caruso S, Jones M, Kuick R, Cierpicki T, Maillard I, Chiang MY.
Cancer Res. 2013 Jan 15;73(2):930-41. doi: 10.1158/0008-5472.CAN-12-1389. Epub 2012 Nov 16.
PMID 23161489
 
Ectopic expression of Zmiz1 induces cutaneous squamous cell malignancies in a mouse model of cancer.
Rogers LM, Riordan JD, Swick BL, Meyerholz DK, Dupuy AJ.
J Invest Dermatol. 2013 Jul;133(7):1863-9. doi: 10.1038/jid.2013.77. Epub 2013 Feb 20.
PMID 23426136
 
TEL and KIP1 define the smallest region of deletions on 12p13 in hematopoietic malignancies.
Sato Y, Suto Y, Pietenpol J, Golub TR, Gilliland DG, Davis EM, Le Beau MM, Roberts JM, Vogelstein B, Rowley JD, et al.
Blood. 1995 Aug 15;86(4):1525-33.
PMID 7632960
 
Incidence and implication of additional chromosome aberrations in acute promyelocytic leukaemia with translocation t(15;17)(q22;q21): a report on 50 patients.
Schoch C, Haase D, Haferlach T, Freund M, Link H, Lengfelder E, Loffler H, Buchner T, Fonatsch C.
Br J Haematol. 1996 Sep;94(3):493-500.
PMID 8790148
 
hZimp10 is an androgen receptor co-activator and forms a complex with SUMO-1 at replication foci.
Sharma M, Li X, Wang Y, Zarnegar M, Huang CY, Palvimo JJ, Lim B, Sun Z.
EMBO J. 2003 Nov 17;22(22):6101-14.
PMID 14609956
 
Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation.
Soler G, Radford-Weiss I, Ben-Abdelali R, Mahlaoui N, Ponceau JF, Macintyre EA, Vekemans M, Bernard OA, Romana SP.
Leukemia. 2008 Jun;22(6):1278-80. Epub 2007 Nov 15. No abstract available.
PMID 18007576
 

Citation

This paper should be referenced as such :
Huret, JL
t(9;10)(q34;q22) ZMIZ1/ABL1
Atlas Genet Cytogenet Oncol Haematol. 2014;18(7):518-520.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0910q34q22ID1520.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(9;10)(q34;q22) ZMIZ1/ABL1

External links

ZMIZ1 (10q22.3) ABL1 (9q34.12)

ZMIZ1 (10q22.3) ABL1 (9q34.12)

ZMIZ1 (10q22.3) ABL1 (9q34.12)

Mitelman databaset(9;10)(q34;q22) [Case List]    t(9;10)(q34;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseZMIZ1/ABL1 [MCList]  ZMIZ1 (10q22.3) ABL1 (9q34.12)
Mitelman databaseZMIZ1/ABL1 [MCList]  ZMIZ1 (10q22.3) ABL1 (9q34.12)
TICdbZMIZ1/ABL1  ZMIZ1 (10q22.3) ABL1 (9q34.12)
 
Disease databaset(9;10)(q34;q22) ZMIZ1/ABL1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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