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Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma: A case report.
World J Gastrointest Oncol
January 2025
Department of Medical College, Jinan University, Guangzhou 510000, Guangdong Province, China.
Background: Gallbladder neuroendocrine carcinoma (NEC) represents a subtype of gallbladder malignancies characterized by a low incidence, aggressive nature, and poor prognosis. Despite its clinical severity, the genetic alterations, mechanisms, and signaling pathways underlying gallbladder NEC remain unclear.
Case Summary: This case study presents a rare instance of primary gallbladder NEC in a 73-year-old female patient, who underwent a radical cholecystectomy with hepatic hilar lymphadenectomy and resection of liver segments IV-B and V.
TP53 Alterations Are an Independent Adverse Prognostic Indicator in Pseudomyxoma Peritonei of Appendiceal Origin Following Cytoreductive Surgery and Intraperitoneal Chemotherapy.
Appl Immunohistochem Mol Morphol
January 2025
Department of Pathology.
Histologic grade is a key predictor for pseudomyxoma peritonei (PMP) of appendiceal origin that is used to guide clinical management. However, some tumors demonstrate disease behavior that deviates from their histologic grade. A recent study suggested that TP53, GNAS, and RAS mutation analysis could stratify tumors into distinct molecular groups with different prognosis.
View Article and Find Full Text PDFIdentification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.
J Oral Pathol Med
January 2025
Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China.
Background: Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.
View Article and Find Full Text PDFComprehensive analysis of targetable mutations and tumor microenvironment in urachal cancer.
NPJ Precis Oncol
January 2025
University of California, Irvine, Orange, CA, 92868, USA.
Urachal cancer, a rare malignancy, generally presents in the clinical setting with advanced stages of disease. Systemic treatment with chemotherapy is generally utilized in this setting. However, there remains a paucity of data on the effectiveness of immune checkpoint inhibitors or targeted therapies for urachal cancer.
View Article and Find Full Text PDFDynamic Changes in Circulating Tumor DNA During Immunotherapy for Head and Neck Cancer: SHIZUKU-HN Study.
Int J Mol Sci
December 2024
Department of Medical Oncology, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-Ku, Tokyo 113-8510, Japan.
Immune checkpoint inhibitors (ICIs) are effective in treating recurrent/metastatic head and neck squamous cell carcinoma (HNSCC), but only 20% of patients achieve durable responses. This study evaluated circulating tumor DNA (ctDNA) as a real-time biomarker for monitoring treatment response in HNSCC. The SHIZUKU-HN study prospectively collected and analyzed serial plasma samples (n = 27) from HNSCC patients undergoing ICIs, using Guardant360 to assess ctDNA variant allele frequency (VAF) and genetic mutations.
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