t(2;19)(p23;p13) TPM4/ALK
2013-01-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
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 ID | Year | Title | Citations |
|---|---|---|---|
| 17131471 | 2006 | Identification of squamous cell carcinoma associated proteins by proteomics and loss of beta tropomyosin expression in esophageal cancer. | 57 |
| 10934142 | 2000 | TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. | 40 |
| 25300797 | 2014 | Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma. | 32 |
| 38711893 | 2024 | Partial response to crizotinib + regorafenib + PD-1 inhibitor in a metastatic BRAF V600EMT colon cancer patient with acquired C-MET amplification and TPM4-ALK fusion: a case report. | 29 |
| 31278140 | 2019 | The effects of crizotinib in a transgenic Drosophila model expressing the human TPM4-ALK fusion gene or TPM4. | 28 |
| 29268561 | 2017 | Pulmonary inflammatory myofibroblastic tumor with TPM4-ALK translocation. | 11 |
| 35172497 | 2017 | Crizotinib Failure in a TPM4-ALK-Rearranged Inflammatory Myofibroblastic Tumor With an Emerging ALK Kinase Domain Mutation. | 0 |
| 17694547 | 2008 | Development of anaplastic lymphoma kinase (ALK) small-molecule inhibitors for cancer therapy. | 0 |
| 38266918 | 2024 | Molecular Screening in Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma: Anaplastic Lymphoma Kinase Analysis, Next-Generation Sequencing Fusion Gene Detection, and T-Cell Receptor Immunoprofiling. | 0 |
| 15764578 | 2004 | Low-grade sarcomas with CD34-positive fibroblasts and low-grade myofibroblastic sarcomas. | 0 |
| 32868646 | 2020 | Lorlatinib for the treatment of inflammatory myofibroblastic tumour with TPM4-ALK fusion following failure of entrectinib. | 0 |
| 12787312 | 2003 | Inflammatory myofibroblastic tumor with predominant anaplastic lymphoma kinase-positive cells lacking a myofibroblastic phenotype. | 0 |
| 16984614 | 2006 | Absence of human herpesvirus-8 and Epstein-Barr virus in inflammatory myofibroblastic tumor with anaplastic large cell lymphoma kinase fusion gene. | 0 |
| 20092987 | 2010 | Effects of triterpenes from Ganoderma lucidum on protein expression profile of HeLa cells. | 0 |
| 15080301 | 2004 | Assessment of t(2;5)(p23;q35) translocation and variants in pediatric ALK+ anaplastic large cell lymphoma. | 0 |
| 17318615 | 2007 | Proteomic profiling of proteins dysregulted in Chinese esophageal squamous cell carcinoma. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10934142 | 2000 | TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. | Lawrence B et al |
| 11493472 | 2001 | Unusual childhood extramedullary hematologic malignancy with natural killer cell properties that contains tropomyosin 4--anaplastic lymphoma kinase gene fusion. | Meech SJ et al |
| 16213362 | 2005 | Detection 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
