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t(X;10)(p11;p12) DDX3X/MLLT10

Written2016-11Tatiana Gindina
Gorbacheva Research Institute of Pediatric Oncology Hematology and Transplantation at First Saint-Petersburg State Medical University named I.P.Pavlov, Saint-Petersburg, Russia / tatgindina@gmail.com

Abstract Review on t(X;10)( p11;p12), with data on clinics and the genes involved.

Keywords chromosome X; chromosome 10; acute lymphoblastic leukemia; T-cell; DDX3X; MLLT10

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1701

Clinics and Pathology

Disease T-Acute lymphoblastic leukemia/lymphoma
Phenotype / cell stem origin In two cases T-ALL was arrested at cortical stage. In the other 3 patients, immunophenotype was incomplete or not available [Brandimarte et al, 2013, 2014].
Epidemiology t(X;10)( p11;p12) DDX3X/MLLT10 occurs in approximately 3% of adult T-ALL and characterizes a subgroup of NOTCH1 positive leukemias.
All five T- ALL patients were males aged 11 - 38 years (median 24.4 years).
PtsAge, genderWBC
(x109/l)
Immuno-phenotypeKaryotypeCI-FISHTherapyFollow up (months)
111, M152.8Cortical T-ALLn.a.Split: MLLT10/10p12
Loss: PAX5, CDKN2A/B, Jak2/9p13-24
Gain: RP11-501C14/17q21.31
AIEOP LLA 2000+73 alive
[Brandimarte et al, 2013]
226, M88Cortical: CD45+, cyCD3+, TDT+, sCD3+, CD4+, CD5+, CD38+, CD1a+, CD34-, CD10-46,Y,t(X;10)(p11;p12),add(1)(p36),del(9)(p11p24)[10]/
46,idem,del(6)(q15)[1]/
46,XY[11]
del(5q)/MAPK9,FLT4
del(6)(q15)/CASP8AP2
del(9)(p21)/CDKN2A/B
GIMEMA 0904 HLA identical SCT+80 alive 
[Brandimarte et al, 2014]
338, M160TDT+, CD7+, cyCD3+, CD5+, CD4+, CD8-n.a.del(9)(p21)/CDKN2A/BGIMEMA 0904Relapse +38 dead
[Brandimarte et al, 2014]
431, M700n.a.46,XY[20]normalGIMEMA 0904Relapse +10 dead [Brandimarte et al, 2014]
516, M68CD45+, TDT+, HLA-DR+, CD7+, CD2+, sCD3+, CD5+, CD8+, CD19-, CD14-, CD13-, CD33-, CD34-, CD22-, CD20-, CD4-46,XY[20]del(9)(p21)/CDKN2AGIMEMA 0496 unrelated SCTRelapse +42 dead
[Brandimarte et al, 2014]
>
Treatment All patients achieved hematologic remission but 3 relapsed and died. Two patients are alive, one of them was treated by HLA identical Hematopoietic stem cell transplantation (HSCT).

Cytogenetics

Additional anomalies see above; notably: del(9p) in 4 cases, del(5q) and del(6q) in 1 case.

Genes involved and Proteins

Gene Name DDX3X
Location Xp11.4
Protein DDX3X is a member of the large family of RNA helicases with a DEAD box domain that is involved in RNA transcription, splicing, mRNA transport, translation initiation, and cell-cycle regulation [Rosner et al, 2007].
Somatic mutations DDX3X somatic mutations have recently been discovered in medulloblastoma, chronic lymphocytic leukemia, and Burkitt lymphoma. Recurrent DDX3X homozygous deletions were identified in gingivobuccal oral squamous cell carcinoma [Brandimarte L., et al, 2013].
Gene Name MLLT10
Location 10p12
Protein MLLT10 contains 3 Zn fingers and a leucine zipper; nuclear localisation; transcription factor [Morerio and Panarello, 2005]

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis DDX3X is one of the genes that escapes X-inactivation in females [Lahn B.T. et al., 1997]. As all patients with DDX3X-MLLT10 positive T-ALL were males, no wild-type DDX3X allele was retained in the leukemic blasts, suggesting that the complete absence of a normally functional DDX3X protein might contribute to leukemogenesis. DDX3X appeared to have oncogenic as well as tumor supressor functions [Change P.C. et al., 2006; Botlagunta M. et al., 2008; Brandimarte L., et al, 2014].
  

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

PMID 9381176
 
 

Citation

This paper should be referenced as such :
Gindina T
t(X;10)(p11;p12) DDX3X/MLLT10;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X10p11p12ID1701.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(X;10)(p11;p12) DDX3X/MLLT10

External links

Mitelman databaset(X;10)(p11;p12) [Case List]    t(X;10)(p11;p12) [Association List] Mitelman database (CGAP - NCBI)
arrayMapMorph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(X;10)(p11;p12) DDX3X/MLLT10
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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indexed on : Tue Mar 14 13:55:17 CET 2017


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