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Congenital mesoblastic nephroma is characterised by kinase mutations including EGFR internal tandem duplications, the ETV6-NTRK3 fusion, and the rare KLHL7-BRAF fusion.
Zhao M, Yin M, Kuick CH, Chen H, Aw SJ, Merchant K, Ng EHQ, Gunaratne S, Loh AHP, Gu W, Tang H, Chang KTE. Zhao M, et al. Histopathology. 2020 Oct;77(4):611-621. doi: 10.1111/his.14194. Epub 2020 Sep 10. Histopathology. 2020. PMID: 32590884
All 12 classic CMNs had EGFR ITD. Of the five cellular CMNs, four had the ETV6-NTRK3 fusion and one had the KLHL7-BRAF fusion. ...CONCLUSIONS: EGFR ITD is a consistent genetic event in classic CMN. A majority of cellular CMNs have the ETV6-NTRK3 fusion …
All 12 classic CMNs had EGFR ITD. Of the five cellular CMNs, four had the ETV6-NTRK3 fusion and one had the KLHL7-BRAF fusion. …
Concurrent Identification of Novel EGFR-SEPT14 Fusion and ETV6-RET Fusion in Secretory Carcinoma of the Salivary Gland.
Black M, Liu CZ, Onozato M, Iafrate AJ, Darvishian F, Jour G, Cotzia P. Black M, et al. Head Neck Pathol. 2020 Sep;14(3):817-821. doi: 10.1007/s12105-019-01074-6. Epub 2019 Sep 9. Head Neck Pathol. 2020. PMID: 31502214 Free PMC article.
Here, we report a case of cystic MASC with cribriform and papillary histology harboring two gene fusions, ETV6-RET and EGFR-SEPT14, identified by targeted RNA sequencing. The presence of the rearrangements was confirmed by FISH, RT-PCR, and Sanger sequencing. This i …
Here, we report a case of cystic MASC with cribriform and papillary histology harboring two gene fusions, ETV6-RET and EGFR-SE …
Disruption of ETV6 leads to TWIST1-dependent progression and resistance to epidermal growth factor receptor tyrosine kinase inhibitors in prostate cancer.
Tsai YC, Zeng T, Abou-Kheir W, Yeh HL, Yin JJ, Lee YC, Chen WY, Liu YN. Tsai YC, et al. Mol Cancer. 2018 Feb 19;17(1):42. doi: 10.1186/s12943-018-0785-1. Mol Cancer. 2018. PMID: 29455655 Free PMC article.
Importantly, ETV6 is required to the anti-proliferation effects of EGFR-TKIs, partly due to the inhibitory function of ETV6 on TWIST1. We also found that EGFR-RAS signaling is tightly controlled by ETV6, supporting its role in TKI sensitivity. . …
Importantly, ETV6 is required to the anti-proliferation effects of EGFR-TKIs, partly due to the inhibitory function of ETV6 …
Recurrent EGFR alterations in NTRK3 fusion negative congenital mesoblastic nephroma.
Lei L, Stohr BA, Berry S, Lockwood CM, Davis JL, Rudzinski ER, Kunder CA. Lei L, et al. Pract Lab Med. 2020 May 16;21:e00164. doi: 10.1016/j.plabm.2020.e00164. eCollection 2020 Aug. Pract Lab Med. 2020. PMID: 32490123 Free PMC article.
A diagnosis of CMN is suggested based on exclusion of differential diagnoses by expert consultation and detection of EGFR KDD. CONCLUSIONS: EGFR activation, predominantly via EGFR KDD, is a common recurrent genetic alteration in CMN lacking NTRK3 fusions. CMN …
A diagnosis of CMN is suggested based on exclusion of differential diagnoses by expert consultation and detection of EGFR KDD. CONCLU …
ZBTB46, SPDEF, and ETV6: Novel Potential Biomarkers and Therapeutic Targets in Castration-Resistant Prostate Cancer.
Fararjeh AS, Liu YN. Fararjeh AS, et al. Int J Mol Sci. 2019 Jun 8;20(11):2802. doi: 10.3390/ijms20112802. Int J Mol Sci. 2019. PMID: 31181727 Free PMC article. Review.
In the current review, we focused on three novel biomarkers (ZBTB46, SPDEF, and ETV6) that were demonstrated to play critical roles in CRPC progression, epidermal growth factor receptor tyrosine kinase inhibitor (EGFR TKI) drug resistance, and the epithelial-to-mese …
In the current review, we focused on three novel biomarkers (ZBTB46, SPDEF, and ETV6) that were demonstrated to play critical roles i …
Mesenchymal neoplasms with NTRK and other kinase gene alterations.
Davis JL, Al-Ibraheemi A, Rudzinski ER, Surrey LF. Davis JL, et al. Histopathology. 2022 Jan;80(1):4-18. doi: 10.1111/his.14443. Histopathology. 2022. PMID: 34958503 Review.
Infantile fibrosarcoma and the related renal tumour, congenital mesoblastic nephroma, were among the first solid tumours shown to harbour recurrent tyrosine kinase fusions, with the canonical ETV6::NTRK3 fusion identified more than 20 years ago. Although targeted testing h …
Infantile fibrosarcoma and the related renal tumour, congenital mesoblastic nephroma, were among the first solid tumours shown to harbour re …
Infantile fibrosarcoma with an EGFR kinase domain duplication: Underlining a close relationship with congenital mesoblastic nephroma and highlighting a similar morphological spectrum.
van Spronsen R, Kester LA, Knops RRG, van de Sande MAJ, van Leenders GJLH, de Laat PCJ, Stortelder E, Korpershoek E, van Noesel MM, Meister MT, Koerkamp MJAG, de Graaf N, Giovannoni I, Tops BBJ, de Krijger RR, Ter Horst SAJ, Flucke U, Alaggio R, Hiemcke-Jiwa LS. van Spronsen R, et al. Ann Diagn Pathol. 2022 Apr;57:151885. doi: 10.1016/j.anndiagpath.2021.151885. Epub 2022 Jan 3. Ann Diagn Pathol. 2022. PMID: 35032896 Free article.
Both IFS and the cellular subtype of CMN show overlapping morphological features and an ETV6-NTRK3 fusion, suggesting a close relationship. An activating alteration of EGFR, based on an EGFR kinase domain duplication (KDD), occurs in a subset of CMNs lacking …
Both IFS and the cellular subtype of CMN show overlapping morphological features and an ETV6-NTRK3 fusion, suggesting a close relatio …
Mammary analogue secretory carcinoma of salivary glands with high-grade transformation: report of 3 cases with the ETV6-NTRK3 gene fusion and analysis of TP53, beta-catenin, EGFR, and CCND1 genes.
Skálová A, Vanecek T, Majewska H, Laco J, Grossmann P, Simpson RH, Hauer L, Andrle P, Hosticka L, Branžovský J, Michal M. Skálová A, et al. Am J Surg Pathol. 2014 Jan;38(1):23-33. doi: 10.1097/PAS.0000000000000088. Am J Surg Pathol. 2014. PMID: 24145651
Analysis for the presence of the ETV6-NTRK3 fusion transcript revealed positivity in both HG and low-grade component of MASC in 2 of the 3 studied cases. ...Recognizing HG-transformed MASC and testing for ETV6 rearrangement may be of potential value in patient treat …
Analysis for the presence of the ETV6-NTRK3 fusion transcript revealed positivity in both HG and low-grade component of MASC in 2 of …
Epidermal growth factor receptor signaling promotes metastatic prostate cancer through microRNA-96-mediated downregulation of the tumor suppressor ETV6.
Tsai YC, Chen WY, Siu MK, Tsai HY, Yin JJ, Huang J, Liu YN. Tsai YC, et al. Cancer Lett. 2017 Jan 1;384:1-8. doi: 10.1016/j.canlet.2016.10.014. Epub 2016 Oct 13. Cancer Lett. 2017. PMID: 27746161
We analyzed two sets of clinical prostate cancer samples, confirmed association patterns that were consistent with the EGFR-miR-96-ETV6 signaling model and demonstrated that the reduced ETV6 levels were associated with malignant prostate cancer. ...We present …
We analyzed two sets of clinical prostate cancer samples, confirmed association patterns that were consistent with the EGFR-miR-96- …
Towards a Molecular Classification of Sinonasal Carcinomas: Clinical Implications and Opportunities.
Taverna C, Agaimy A, Franchi A. Taverna C, et al. Cancers (Basel). 2022 Mar 12;14(6):1463. doi: 10.3390/cancers14061463. Cancers (Basel). 2022. PMID: 35326613 Free PMC article. Review.
These include, among others, the identification of a subset of sinonasal carcinomas associated with HPV infection, the identification of a subset of squamous cell carcinomas with EGFR alterations, and of rare variants with chromosomal translocations (DEK::AFF2, ETV6 …
These include, among others, the identification of a subset of sinonasal carcinomas associated with HPV infection, the identification of a s …
24 results