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t(2;19)(p23;p13) TPM4/ALK

Written2013-01Jean-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
Atlas_Id 1549

Clinics and Pathology

Disease Anaplastic large cell lymphoma (ALCL)
Clinics Only one case to date, an 18-month-old boy with a null-ALCL (Meech et al., 2001).
Cytology Cells expressed both myeloid (CD13, CD33, HLA-DR) and natural killer (CD3-/CD56+, germline TCR genes, CD25+/CD122+/granzyme B+) cell antigens.
Evolution The patient was in remission 14 months after completion of therapy.

Cytogenetics

Cytogenetics Morphological To be noted is that an identical t(2;19)(p23;p13), also involving TPM4 and ALK, has been found in a case of inflammatory myofibroblastic tumor (Lawrence et al., 2000).
A pre-B cell acute leukemia was described with a t(9;12)(q22;p13) and ETV6 rearrangement, and also a t(2;19)(p23;p13) (Pérez-Vera et al., 2005). It is likely that this translocation t(2;19)(p23;p13) is different at the molecular level.

Genes involved and Proteins

Gene Name ALK
Location 2p23.2
Protein 1620 amino acids; ALK is a membrane associated tyrosine kinase receptor of the insulin receptor superfamily.
Gene Name TPM4
Location 19p13.12
Protein 248 amino acids; tropomyosins are actin-binding proteins; component of cytoskeletal microfilaments; role in the calcium dependent regulation of striated muscle.

Result of the chromosomal anomaly

Hybrid gene
Description 5'TPM4-3'ALK. Fusion between TPM4 nucleotide 714 and ALK nucleotide 4084.
  

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

TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.
Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Dal Cin P, Pinkus JL, Pinkus GS, Xiao S, Yi ES, Fletcher CD, Fletcher JA.
Am J Pathol. 2000 Aug;157(2):377-84.
PMID 10934142
 
Unusual childhood extramedullary hematologic malignancy with natural killer cell properties that contains tropomyosin 4--anaplastic lymphoma kinase gene fusion.
Meech SJ, McGavran L, Odom LF, Liang X, Meltesen L, Gump J, Wei Q, Carlsen S, Hunger SP.
Blood. 2001 Aug 15;98(4):1209-16.
PMID 11493472
 
Detection of ETV6 and RUNX1 gene rearrangements using fluorescence in situ hybridization in Mexican patients with acute lymphoblastic leukemia: experience at a single institution.
Perez-Vera P, Montero-Ruiz O, Frias S, Ulloa-Aviles V, Cardenas-Cardos R, Paredes-Aguilera R, Rivera-Luna R, Carnevale A.
Cancer Genet Cytogenet. 2005 Oct 15;162(2):140-5.
PMID 16213362
 

Citation

This paper should be referenced as such :
Huret, JL
t(2;19)(p23;p13) TPM4/ALK
Atlas Genet Cytogenet Oncol Haematol. 2013;17(5):344-345.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0219p23p13ID1549.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes ALK

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;19)(p23;p13) TPM4/ALK

External links

arrayMap (UZH-SIB Zurich)TPM4 (19p13.12) ALK (2p23.2)

TPM4 (19p13.12) ALK (2p23.2)

TPM4 (19p13.12) ALK (2p23.2)

Mitelman databaset(2;19)(p23;p13) [Case List]    t(2;19)(p23;p13) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
COSMIC_fusionTPM4/ALK TPM4 (19p13.12) ALK (2p23.2)   [fusion441]   [fusion442]  
Mitelman databaseTPM4/ALK [MCList]  TPM4 (19p13.12) ALK (2p23.2)
TICdbTPM4/ALK  TPM4 (19p13.12) ALK (2p23.2)
 
Disease databaset(2;19)(p23;p13) TPM4/ALK
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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