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GENE:

KIAA1217 (KIAA1217)

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Other names: KIAA1217, SKT, Sickle Tail Protein Homolog, ETL4, Likely Orthologue Of Mus Musculus Enhancer Trap Locus 4
6ms
ALK-rearranged renal cell carcinoma: a clinicopathological analysis of three cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
Its histological morphology is easily confused with that of papillary RCC and TFE3-rearranged RCC. Both immunohistochemistry and gene rearrangement tests should be used to confirm the diagnosis.
Journal
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ALK (Anaplastic lymphoma kinase) • EML4 (EMAP Like 4) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • KIAA1217 (KIAA1217) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8)
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ALK rearrangement • ALK fusion
over3years
Bronchial salivary gland-type intraductal carcinoma with KIAA1217::RET gene fusion composed of intercalated and oncocytic components. (PubMed, Virchows Arch)
In the present case, we detected KIAA1217::RET fusion via DNA-based next-generation sequencing (NGS) and RT-PCR, which established the diagnosis of IC at a molecular level. The present case expands the categories of bronchopulmonary salivary gland-type tumors.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • RET (Ret Proto-Oncogene) • AR (Androgen receptor) • NKX2-1 (NK2 Homeobox 1) • SOX10 (SRY-Box 10) • KIAA1217 (KIAA1217) • TP63 (Tumor protein 63) • ANO1 (Anoctamin 1) • GATA3 (GATA binding protein 3) • NAPSA (Napsin A Aspartic Peptidase)
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RET fusion • KIAA1217-RET fusion
over3years
The spectrum of gene fusions in primary epithelial ovarian tumours identified by panel RNA NGS approach (ECP 2022)
The applied RNA-Seq approach revealed several known or novel fusions across different types of primary epithelial ovarian tumours. Extension of the analysed cohort and identifica-tion of fusions is ongoing and eventually will show fusion patterns, the role of gene fusions in targeted therapy and differential diag-nostics in rare ovarian primary tumours.
Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • FGFR2 (Fibroblast growth factor receptor 2) • NF1 (Neurofibromin 1) • KIAA1217 (KIAA1217) • ADGRG7 (Adhesion G Protein-Coupled Receptor G7)
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FGFR2 fusion
4years
KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3. (PubMed, Int J Mol Sci)
Interestingly, KIAA1217-activated p-STAT3 was retained in the cytoplasm instead of translocating into the nucleus, where p-STAT3 subsequently activated the Notch and Wnt/β-catenin pathways to facilitate EMT induction and HCC metastasis. Collectively, KIAA1217 may function as an adaptor protein or scaffold protein in the cytoplasm and coordinate multiple pathways to promote EMT-induced HCC metastasis, indicating its potential as a therapeutic target for curbing HCC metastasis.
Journal
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JAK2 (Janus kinase 2) • JAK1 (Janus Kinase 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • KIAA1217 (KIAA1217)