| Entity | Papillary thyroid carcinoma |
| Cytogenetics | inv(10)(q11.2q21) |
| Hybrid/Mutated Gene | H4-RET (also known as PTC1) |
| Abnormal Protein | Contains the leucine zipper of H4 and the entire tyrosine kinase domain of RET. The fusion is a constitutively active tyrosine kinase. |
| Oncogenesis | In transgenic mice the fusion gave rise to mammary adenocarcinomas and, less frequently, hyperplasia of sebaceous glands and rare benign skin tumors. |
| | |
| Entity | negative chronic myeloid leukaemia / chronic myelomonocytic leukemia |
| Prognosis | Too few cases reported but likely to be similar to CML |
| Cytogenetics | t(5;10)(q33;q21.2) |
| Hybrid/Mutated Gene | H4-PDGFRB. In a single case analyzed the translocation was found to be complex at the molecular level. |
| Abnormal Protein | Contains the leucine zipper of H4 and the entire tyrosine kinase domain and transmembrane domain of PDGFRB |
| | |
| Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC. |
| Pierotti MA, Santoro M, Jenkins RB, Sozzi G, Bongarzone I, Grieco M, Monzini N, Miozzo M, Herrmann MA, Fusco A |
| Proceedings of the National Academy of Sciences of the United States of America. 1992 ; 89 (5) : 1616-1620. |
| PMID 1542652 |
| |
| Cloning and characterization of H4 (D10S170), a gene involved in RET rearrangements in vivo. |
| Grieco M, Cerrato A, Santoro M, Fusco A, Melillo RM, Vecchio G |
| Oncogene. 1994 ; 9 (9) : 2531-2535. |
| PMID 8058316 |
| |
| Development of mammary and cutaneous gland tumors in transgenic mice carrying the RET/PTC1 oncogene. |
| Portella G, Salvatore D, Botti G, Cerrato A, Zhang L, Mineo A, Chiappetta G, Santelli G, Pozzi L, Vecchio G, Fusco A, Santoro M |
| Oncogene. 1996 ; 13 (9) : 2021-2026. |
| PMID 8934550 |
| |
| Leucine zipper-mediated dimerization is essential for the PTC1 oncogenic activity. |
| Tong Q, Xing S, Jhiang SM |
| The Journal of biological chemistry. 1997 ; 272 (14) : 9043-9047. |
| PMID 9083029 |
| |
| Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). |
| Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF, Kaeda J, Cwynarski K, Goldman JM, Cross NC |
| Cancer research. 2000 ; 60 (13) : 3592-3598. |
| PMID 10910073 |
| |
