| Entity | Anaplasic large cell lymphoma (ALCL) with t(2;17)(p23;q23) --> ALK - CLTC |
| Disease | ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset. |
| Prognosis | Although presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly |
| Hybrid/Mutated Gene | 5' CLTC - 3' ALK |
| Abnormal Protein | NH2 CLTC - COOH ALK |
| | |
| Entity | Inflammatory myofibroblastic tumors with t(2;17)(p23;q23) |
| Note | In these tumors, the fusion point in CLTC is identical, being at amino acid 1634 (corresponding to the 3' end of exon 31 of CLTC), such that almost all of CLTC is included in the fusion protein, including its trimerization domain . As a fusion partner, CLTC has been postulated to provide CLTC-ALK with deregulated expression driven by its constitutively activated promoter and constitutive oligomerization of the chimeric protein via the CLTC multimerization domains normally used for clathrin coat assembly. Since ALK is a tyrosine kinase that is activated by cross-phosphorylation following ligand binding, CLTC-ALK-induced oligomerization may result in a constitutively activated ALK tyrosine kinase domain. In this sense, CLTC is likely to function in CLTC-ALK as other prototypical "dimerizing translocation partners" in fusions involving tyrosine kinase genes. |
| Disease | rare soft tissue tumour found in children and young adults |
| Prognosis | good prognosis |
| Hybrid/Mutated Gene | 5' CLTC - 3' ALK |
| | |
| Entity | Xp11 renal translocation carcinoma with t(X;17)(p11;q23) |
| Note | In the CLTC-TFE3 fusion, the fusion point on CLTC is at amino acid 932 (corresponding to the end of exon 17), thereby excluding the CLTC trimerization domain from the predicted fusion protein. As in other TFE3 gene fusions, the nuclear localization and DNA binding domains of TFE3 are retained in CLTC-TFE3. Based on these features and existing data on other TFE3 fusion proteins, CLTC-TFE3 may act as an aberrant transcription factor, with the CLTC promoter driving constitutive expression. |
| Disease | rare renal carcinoma (single case report) |
| Prognosis | Unknown prognosis |
| Hybrid/Mutated Gene | 5' CLTC 3'TFE3 |
| | |
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| Written | 08-2001 | Jean-Loup Huret |
| | Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Updated | 04-2005 | Pedram Argani, Marc Ladanyi |
| | Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Updated | | |
| | The Johns Hopkins Hospital/ Surgical Pathology Weinberg Building, Room 2242, 4O1 N. Broadway, Baltimore, MD 21231-2410, USA |
