Detection of gene mutations and gene-gene fusions in circulating cell-free DNA of glioblastoma patients: an avenue for clinically relevant diagnostic analysis.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular oncology"
DOI: 10.1002/1878-0261.13157
Abstract: Glioblastoma (GBM) is the most common type of glioma and is uniformly fatal. Currently, tumour heterogeneity and mutation acquisition are major impedances for tailoring personalized therapy. We collected blood and tumour tissue samples from 25… read more here.
Keywords: dna; mutations gene; gene fusions; gbm patients ... See more keywords
Novel EPC1 gene fusions in endometrial stromal sarcoma
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DOI: 10.1002/gcc.22649
Abstract: Endometrial stromal sarcoma encompasses a heterogeneous group of uterine mesenchymal neoplasms, which are currently divided into low‐grade and high‐grade subtypes. Low‐grade endometrial stromal sarcoma is morphologically bland; molecularly, these tumors frequently contain JAZF1‐SUZ12, JAZF1‐PHF1, and… read more here.
Keywords: gene fusions; novel epc1; grade; stromal sarcoma ... See more keywords
Gene fusions characterize a subset of uterine cellular leiomyomas
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.1002/gcc.22888
Abstract: Uterine leiomyomas are the most common benign tumor of the female genital tract. Previous studies have shown that conventional leiomyomas often harbor‐specific alterations including rearrangements involving HMGA2. Cellular leiomyomas are a variant of uterine leiomyoma… read more here.
Keywords: gene fusions; leiomyomas; fusions characterize; uterine cellular ... See more keywords
Expanding the molecular spectrum of gene fusions in endometrial stromal sarcoma: Novel subunits of the chromatin remodeling complexes PRC2 and NuA4/TIP60 as alternative fusion partners
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.1002/gcc.23109
Abstract: Endometrial stromal sarcomas (ESS) are morphologically and molecularly heterogeneous. We report novel gene fusions (EPC1::EED, EPC1::EZH2, ING3::PHF1) identified by targeted RNA sequencing in five cases. The ING3::PHF1‐fusion positive ESS presented in a 58‐year‐old female as… read more here.
Keywords: fusion; molecular spectrum; endometrial stromal; gene fusions ... See more keywords
Regulatory networks and 5′ partner usage of miRNA host gene fusions in breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.33972
Abstract: Genomic rearrangements in cancer cells can create gene fusions where the juxtaposition of two different genes leads to the production of chimeric proteins or altered gene expression through promoter‐swapping. We have previously shown that fusion… read more here.
Keywords: mirna host; cancer; gene fusions; host gene ... See more keywords
Novel gene fusions found in cervical cancer
Sign Up to like & getrecommendations! Published in 2018 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2018.11.013
Abstract: Over the last decade, modern medicine has always concentrated on occur in early tumorigenesis in a subclass of cervical cancer, which was the exploration of relationships between somatic mutations, abnormal chromosome structures and various illnesses… read more here.
Keywords: gene fusions; analysis; cervical cancer; chimeric fusions ... See more keywords
What is hiding behind S100 protein and SOX10 positive oncocytomas? Oncocytic pleomorphic adenoma and myoepithelioma with novel gene fusions in a subset of cases.
Sign Up to like & getrecommendations! Published in 2020 at "Human pathology"
DOI: 10.1016/j.humpath.2020.07.009
Abstract: Oncocytomas (OC) in salivary glands are rare benign tumors composed of mitochondria-rich epithelial cells (oncocytes), mostly localized in the parotid gland. The treatment of choice is simple excision. Extensive oncocytic metaplasia of pleomorphic adenoma (PA)… read more here.
Keywords: gene fusions; plag1; s100 protein; protein sox10 ... See more keywords
HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions
Sign Up to like & getrecommendations! Published in 2021 at "Leukemia"
DOI: 10.1038/s41375-021-01436-6
Abstract: Gene fusions have been discussed in the scientific literature since they were first detected in cancer cells in the early 1980s. There is currently no standardized way to denote the genes involved in fusions, but… read more here.
Keywords: gene fusions; hugo gene; hgnc; nomenclature committee ... See more keywords
Calcified chondroid mesenchymal neoplasms with FN1-receptor tyrosine kinase gene fusions including FGFR2, FGFR1, MERTK, NTRK1, and TEK: a molecular and clinicopathologic analysis
Sign Up to like & getrecommendations! Published in 2021 at "Modern Pathology"
DOI: 10.1038/s41379-021-00786-x
Abstract: Translocations involving FN1 have been described in a variety of neoplasms that share the presence of a cartilage matrix and may also contain a variable extent of calcification. Fusions of FN1 to FGFR1 or FGFR2… read more here.
Keywords: gene fusions; soft tissue; gene; tyrosine kinase ... See more keywords
Gene fusions in superficial mesenchymal neoplasms: Emerging entities and useful diagnostic adjuncts.
Sign Up to like & getrecommendations! Published in 2023 at "Seminars in diagnostic pathology"
DOI: 10.1053/j.semdp.2023.04.014
Abstract: Cutaneous mesenchymal neoplasms are diagnostically challenging because of their overlapping morphology, and, often, the limited tissue in skin biopsy specimens. Molecular and cytogenetic techniques have identified characteristic gene fusions in many of these tumor types,… read more here.
Keywords: cell; mesenchymal neoplasms; gene fusions; tumor ... See more keywords
HGG-34. DETECTION OF ONCOGENIC FUSION EVENTS IN SUPRATENTORIAL GLIOBLASTOMAS OF YOUNG CHILDREN
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DOI: 10.1093/neuonc/noaa222.315
Abstract: Abstract INTRODUCTION Glioblastoma in infancy and early childhood is characterized by a more favorable outcome compared to older children, a stable genome, and the occurrence of tyrosine kinase gene fusions that may represent therapeutic targets.… read more here.
Keywords: gene fusions; hgg detection; four years; detection oncogenic ... See more keywords