| Entity | rare cases of ALK+ anaplasic large cell lymphoma (ALCL) with t(1;2)(q25;p23) |
| Disease | ALCL presents as an aggressive lymphoma with systemic signs |
| Prognosis | nonetheless, have a favourable prognosis |
| Hybrid/Mutated Gene | 5' CLTC - 3' ALK |
| Abnormal Protein | 104 kDa ; 221 N-term amino acids from TPM3 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein. |
| Oncogenesis | TPM3-ALK is contitutively activated |
| | |
| Entity | cases of Inflammatory myofibroblastic tumors with t(1;2)(q25;p23) |
| Disease | rare soft tissue tumour found in children and young adults |
| Prognosis | good prognosis |
| Hybrid/Mutated Gene | 5' CLTC - 3' ALK |
| Abnormal Protein | 104 kDa ; 221 N-term amino acids from TPM3 fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein. |
| Oncogenesis | TPM3-ALK is contitutively activated |
| | |
| Entity | papillary thyroid carcinoma |
| Disease | represents about 60% of thyroid cancers; small, undetectable, chromosome 1q inversions have shown to produce a TPM3-NTRK1 hybrid gene in a very few cases of papillary thyroid carcinoma. |
| Prognosis | prognosis of papillary thyroid carcinoma is excellent |
| Hybrid/Mutated Gene | 5' TPM3 - 3' NTRK1 |
| Abnormal Protein | 221 N-term amino acids from PM3 fused to the C-term of NTRK1, including its tyrosine kinase domain |
| | |
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