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

2013-01-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

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.

Genes Involved and Proteins

Gene name
ALK (anaplastic lymphoma receptor tyrosine kinase)
Location
2p23.2
Protein description
1620 amino acids; ALK is a membrane associated tyrosine kinase receptor of the insulin receptor superfamily.
Gene name
TPM4 (tropomyosin)
Location
19p13.12
Protein description
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

Description

5TPM4-3ALK. Fusion between TPM4 nucleotide 714 and ALK nucleotide 4084.

Highly cited references

Pubmed IDYearTitleCitations
109341422000TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.145
176945472008Development of anaplastic lymphoma kinase (ALK) small-molecule inhibitors for cancer therapy.46
171314712006Identification of squamous cell carcinoma associated proteins by proteomics and loss of beta tropomyosin expression in esophageal cancer.46
173186152007Proteomic profiling of proteins dysregulted in Chinese esophageal squamous cell carcinoma.41
200929872010Effects of triterpenes from Ganoderma lucidum on protein expression profile of HeLa cells.21
253007972014Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma.14
157645782004Low-grade sarcomas with CD34-positive fibroblasts and low-grade myofibroblastic sarcomas.5
328686462020Lorlatinib for the treatment of inflammatory myofibroblastic tumour with TPM4-ALK fusion following failure of entrectinib.4
169846142006Absence of human herpesvirus-8 and Epstein-Barr virus in inflammatory myofibroblastic tumor with anaplastic large cell lymphoma kinase fusion gene.4
150803012004Assessment of t(2;5)(p23;q35) translocation and variants in pediatric ALK+ anaplastic large cell lymphoma.4
312781402019The effects of crizotinib in a transgenic Drosophila model expressing the human TPM4-ALK fusion gene or TPM4.3
351724972017Crizotinib Failure in a TPM4-ALK-Rearranged Inflammatory Myofibroblastic Tumor With an Emerging ALK Kinase Domain Mutation.1
127873122003Inflammatory myofibroblastic tumor with predominant anaplastic lymphoma kinase-positive cells lacking a myofibroblastic phenotype.1
292685612017Pulmonary inflammatory myofibroblastic tumor with TPM4-ALK translocation.0

Bibliography

Pubmed IDLast YearTitleAuthors
109341422000TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors.Lawrence B et al
114934722001Unusual childhood extramedullary hematologic malignancy with natural killer cell properties that contains tropomyosin 4--anaplastic lymphoma kinase gene fusion.Meech SJ et al
162133622005Detection of ETV6 and RUNX1 gene rearrangements using fluorescence in situ hybridization in Mexican patients with acute lymphoblastic leukemia: experience at a single institution.Pérez-Vera P et al

Summary

Fusion gene

TPM4/ALK TPM4 (19p13.12) ALK (2p23.2) COF 441 442|TPM4/ALK TPM4 (19p13.12) ALK (2p23.2) M t(2;19)(p23;p13)|TPM4/ALK TPM4 (19p13.12) ALK (2p23.2) TIC

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1549/t(2;19)(p23;p13)

External Links