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EWSR1::CREM rearranged intra-abdominal malignant epithelioid neoplasm: two new cases of an emerging entity with clinicopathological characteristics and histological pitfalls.
Virchows Arch
January 2025
Department of Pathology, Institut Claudius Regaud, Institut Universitaire du Cancer de Toulouse, 1 Av. Irène Joliot-Curie, 31100, Toulouse, France.
The EWSR1::CREM rearranged intra-abdominal malignant epithelioid neoplasm is an emerging tumor, with only a few publications describing it to date. Here, we report two new cases of this highly aggressive tumor, primarily involving the peritoneal surface. The tumors presented as a widespread diffuse peritoneal lesion associated with a 4-cm pelvic mass in a 28-year-old woman (Case 1) and as a 10-cm intra-abdominal mass infiltrating the stomach with multiple hepatic metastases in a 53-year-old woman (Case 2).
View Article and Find Full Text PDFThe candidate gene SibHLHA regulates anthocyanin-driven purple pigmentation in Sesamum indicum flowers.
Theor Appl Genet
January 2025
Henan Sesame Research Center, Henan Academy of Agricultural Sciences, Zhengzhou, China.
Anthocyanins not only serve as critical pigments determining floral hues but also play essential roles in attracting insects for pollination, feeding animals and mitigating abiotic stress. However, the molecular mechanisms underlying the regulation of flower color in sesame has not yet been reported. In this study, an F population was constructed by crossing 'Ganzhi 9' (purple-flowered) with 'BS377' (white-flowered).
View Article and Find Full Text PDFMitochondrial DNA copy number alterations: Key players in the complexity of glioblastoma (Review).
Mol Med Rep
March 2025
Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan 16150, Malaysia.
Renowned as a highly invasive and lethal tumor derived from neural stem cells in the central nervous system, glioblastoma (GBM) exhibits substantial histopathological variation and genomic complexity, which drive its rapid progression and therapeutic resistance. Alterations in mitochondrial DNA (mtDNA) copy number (CN) serve a crucial role in GBM development and progression, affecting various aspects of tumor biology, including energy production, oxidative stress regulation and cellular adaptability. Fluctuations in mtDNA levels, whether elevated or diminished, can impair mitochondrial function, potentially disrupting oxidative phosphorylation and amplifying reactive oxygen species generation, thereby fueling tumor growth and influencing treatment responses.
View Article and Find Full Text PDFIdentifying Safeguards Disabled by Epstein-Barr Virus Infections in Genomes From Patients With Breast Cancer: Chromosomal Bioinformatics Analysis.
JMIRx Med
January 2025
Department of Biochemistry and Medical Genetics, Cancer Center, University of Illinois Chicago, 900 s Ashland, Chicago, IL, 60617, United States, 1 8479124216.
Background: The causes of breast cancer are poorly understood. A potential risk factor is Epstein-Barr virus (EBV), a lifelong infection nearly everyone acquires. EBV-transformed human mammary cells accelerate breast cancer when transplanted into immunosuppressed mice, but the virus can disappear as malignant cells reproduce.
View Article and Find Full Text PDFCiliopathy-associated missense mutations in IFT140 are tolerated by the inherent resilience of the IFT machinery.
Mol Cell Proteomics
January 2025
Institute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Elfriede-Aulhorn-Strasse 7, 72076 Tübingen, Germany. Electronic address:
Genotype-phenotype correlations of rare diseases are complicated by low patient number, high phenotype variability and compound heterozygosity. Mutations may cause instability of single proteins, and affect protein complex formation or overall robustness of a specific process in a given cell. Ciliopathies offer an interesting case for studying genotype-phenotype correlations as they have a spectrum of severity and include diverse phenotypes depending on different mutations in the same protein.
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