Gene rearrangements, such as anaplastic lymphoma kinase (), c-ros oncogene 1 receptor tyrosine kinase (), rearranged during transfection () and neurotrophic receptor tyrosine kinase 1 (), identified in cancer have been indicated to be robust therapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery of novel gene fusions is also valuable for LARC research. We used mass spectrometry-based assays and RNA sequencing to detect both known , , and rearrangements and novel gene fusions in LARC patients. FusionMap was also used to find gene fusions. None of the , , or gene fusions were detected by mass spectrometry-based assays or RNA sequencing. Three fusion candidates, integrin subunit beta 7 ()-ROS1, lamin A/C ()- and Golgi-associated PDZ and coiled-coil motif containing ()-keratin 8 (), showed relatively high junction-spanning reads by the FusionMap algorithm, but did not pass validation. These results suggest that no , or rearrangements were found in LARC.
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Endocr Relat Cancer
January 2025
A Nikitski, Department of Pathology, University of Pittsburgh, Pittsburgh, 15261, United States.
Approximately 10-20% of thyroid cancers are driven by gene fusions, which activate oncogenic signaling through aberrant overexpression, ligand-independent dimerization, or loss of inhibitory motifs. We identified 13 thyroid tumors with thyroglobulin (TG) gene fusions and aimed to assess their histopathology and the fusions' oncogenic and tumorigenic properties. Of 11 cases with surgical pathology, 82% were carcinomas and 18% noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP).
View Article and Find Full Text PDFGynecol Oncol Rep
February 2025
Department of Obstetrics and Gynaecology, Faculty of Medicine, King Abdulaziz University, Rabigh, Saudi Arabia.
Endometrial stromal tumors (ESTs) are uncommon mesenchymal tumors of the reproductive system associated with heterogeneous histomolecular features. According to the World Health Organization (WHO), ESTs are classified into benign endometrial stromal nodules (BESN) and endometrial stromal sarcomas (ESSs), which are further divided into low-grade and high-grade subtypes. High-grade ESS is frequently associated with YWHAE-NUTM2 gene fusions, while a newly recognized subtype with BCOR rearrangements, including fusions, alterations, and internal tandem duplications (ITDs), has recently been incorporated into the molecular classification of ESS.
View Article and Find Full Text PDFGenes Dis
May 2025
Department of Orthopaedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, China.
Front Pharmacol
January 2025
Institute of Pharmaceutical Chemistry, Goethe University, Frankfurt, Germany.
5-Lipoxygenase (5-LO), encoded by the gene , is implicated in several pathologies. As key enzyme in leukotriene biosynthesis, 5-LO plays a central role in inflammatory diseases, but the 5-LO pathway has also been linked to development of certain hematological and solid tumor malignancies. Of note, previous studies have shown that the leukemogenic fusion protein MLL-AF4 strongly increases gene promoter activity.
View Article and Find Full Text PDFFront Immunol
January 2025
Department of Hematology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
B-cell acute lymphoblastic leukemia (B-ALL) with the fusion gene has a poor prognosis, and the mortality rate exceeds 90%, particularly in cases of extramedullary relapse (EMR). Herein, we present a case of a 46-year-old male patient who developed relapsed B-ALL with . The patient initially achieved a complete remission (CR) after induction therapy and underwent haploidentical hematopoietic stem cell transplantation.
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