A novel RBMX‐TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22801
Abstract: We report an Xp11 translocation perivascular epithelioid cell tumor (PEComa) with a novel RBMX‐TFE3 gene fusion, resulting from a paracentric X chromosome inversion, inv(X)(p11;q26). The neoplasm occurred in an otherwise healthy 12‐year‐old boy who presented… read more here.
Keywords: rbmx tfe3; gene fusion; rbmx; tfe3 gene ... See more keywords
YAP1-NUTM1 Gene Fusion in Porocarcinoma of the External Auditory Canal
Sign Up to like & getrecommendations! Published in 2020 at "Head and Neck Pathology"
DOI: 10.1007/s12105-020-01173-9
Abstract: Gene fusions involving the NUTM1 gene ( NUT ) represent defining genetic markers of a highly aggressive carcinoma type with predilection for the midline structures of children and young adults, hence the original description as… read more here.
Keywords: nutm1 gene; auditory canal; gene fusion; yap1 nutm1 ... See more keywords
Renal cancer associated with Xp11.2 translocation/TFE3 gene fusion: Clinicopathological analysis of 13 cases.
Sign Up to like & getrecommendations! Published in 2022 at "Annals of diagnostic pathology"
DOI: 10.1016/j.anndiagpath.2022.151908
Abstract: OBJECTIVE To explore the clinicopathological characteristics, immunohistochemical phenotype, diagnosis and differential diagnosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion. METHODS The clinical history, pathological morphology, immunohistochemical phenotype and related molecular test results… read more here.
Keywords: tfe3 gene; gene fusion; gene; translocation tfe3 ... See more keywords
Development of Peptidomimetic Inhibitors of the ERG Gene Fusion Product in Prostate Cancer.
Sign Up to like & getrecommendations! Published in 2017 at "Cancer cell"
DOI: 10.1016/j.ccell.2017.05.001
Abstract: Xiaoju Wang, Yuanyuan Qiao, Irfan A. Asangani, Bushra Ateeq, Anton Poliakov, Marcin Cie slik, Sethuramasundaram Pitchiaya, Balabhadrapatruni V.S.K. Chakravarthi, Xuhong Cao, Xiaojun Jing, Cynthia X. Wang, Ingrid J. Apel, Rui Wang, Jean Ching-Yi Tien, Kristin… read more here.
Keywords: development peptidomimetic; erg gene; inhibitors erg; peptidomimetic inhibitors ... See more keywords
EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma: a case report and review of the literature.
Sign Up to like & getrecommendations! Published in 2018 at "Human pathology"
DOI: 10.1016/j.humpath.2018.03.020
Abstract: Mesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion… read more here.
Keywords: ewsr1 nfatc2; nfatc2 gene; gene fusion; round cell ... See more keywords
Renal Cell Carcinoma Associated With Xp11.2 Translocation/TFE3 Gene-fusion: A Long Response to mammalian target of rapamycin (mTOR) Inhibitors.
Sign Up to like & getrecommendations! Published in 2018 at "Urology"
DOI: 10.1016/j.urology.2018.03.032
Abstract: Objective To demonstrate that patients with Xp11.2/TFE3 gene-fusion translocation renal cell carcinoma (RCC), despite having an aggressive course in young adults, could have valid treatment options such as mammalian target of rapamycin (mTOR) inhibitors with… read more here.
Keywords: tfe3 gene; gene fusion; mtor; mtor inhibitors ... See more keywords
Molecular locker probe enrichment of gene fusion variants from matched patient liquid biopsy specimens for magneto-bioelectrocatalytic nanosensing.
Sign Up to like & getrecommendations! Published in 2022 at "Nanoscale"
DOI: 10.1039/d1nr07845c
Abstract: The accurate and sensitive analysis of recurrent gene fusion mutant variants in circulating tumor nucleic acids (NAs) of patient liquid biopsy samples is crucial for realizing clinical potential for cancer screening, diagnostics, and therapeutics. Gene… read more here.
Keywords: gene fusion; liquid biopsy; gene; patient liquid ... See more keywords
Tumour response to TRK inhibition in a patient with pancreatic adenocarcinoma harbouring an NTRK gene fusion
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Oncology"
DOI: 10.1093/annonc/mdz385
Abstract: Abstract Background Although rare, NTRK gene fusions are known to be oncogenic drivers in pancreatic ductal adenocarcinoma (PDAC). We report the response of a metastatic CTRC-NTRK1 gene fusion-positive PDAC to targeted treatment with the oral… read more here.
Keywords: response; gene fusion; trk; gene ... See more keywords
Gene fusion involving the insulin‐like growth factor 1 receptor in an ALK‐negative inflammatory myofibroblastic tumour
Sign Up to like & getrecommendations! Published in 2019 at "Histopathology"
DOI: 10.1111/his.13839
Abstract: Inflammatory myofibroblastic tumour (IMT) is a soft tissue tumour primarily affecting children and young adults. Approximately 50% of IMTs have gene fusions involving the receptor tyrosine kinase (RTK)‐encoding ALK gene, providing a molecular rationale for… read more here.
Keywords: myofibroblastic tumour; gene fusion; receptor; gene ... See more keywords
ELMOD3‐SH2D6 gene fusion as a possible co‐star actor in autism spectrum disorder scenario
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.14733
Abstract: Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility… read more here.
Keywords: elmod3 sh2d6; gene fusion; spectrum disorder; fusion ... See more keywords
A novel SREBF1::NACC1 gene fusion in an unclassifiable intracranial tumour
Sign Up to like & getrecommendations! Published in 2022 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12843
Abstract: A 39‐year‐old man had an intracranial tumour without infiltration into the surrounding cerebral tissue. The tumour recurred seven times in 11 years but maintained a well‐demarcated character. Histopathological examination of the 4th surgical specimens showed… read more here.
Keywords: novel srebf1; intracranial tumour; tumour; nacc1 gene ... See more keywords