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GLI1, CDK4, and MDM2 Co-Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review.
Genes Chromosomes Cancer
November 2024
Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Plexiform fibromyxoma (PF) is a rare mesenchymal tumor that primarily occurs in gastric origin with a benign behavior. PF commonly harbors the MALAT1::GLI1 fusion gene. Here, we describe a case of a 36-year-old female with a PF.
View Article and Find Full Text PDFExpanding the Spectrum of GLI1-rearranged Neoplasms of the Gastrointestinal Tract to Include Monophasic Keratin-positive Epithelial Neoplasms.
Am J Surg Pathol
November 2024
Department of Pathology, University of California, San Francisco, CA.
GLI1-altered tumors form a diverse group occurring in various anatomic locations. In the alimentary tract, the most established are gastroblastoma, a biphasic epithelial-mesenchymal neoplasm of the stomach, and plexiform fibromyxoma, a pure spindle cell neoplasm. The spectrum of GLI1-rearranged gastrointestinal tumors has recently expanded with reports of cases in other parts of the GI tract, some exhibiting gastroblastoma-like features and others being pure mesenchymal neoplasms.
View Article and Find Full Text PDFSelumetinib for children with neurofibromatosis type 1 and plexiform neurofibromas: A plain language summary of SPRINT.
Future Oncol
May 2024
Pediatric Oncology Branch, National Cancer Institute, Center for Cancer Research, Bethesda, MD, USA.
What Is This Summary About?: This summary describes a publication about a study called SPRINT. The SPRINT study included 50 children with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN) that could not be removed with surgery. PNs are tumors that grow along nerves and can cause various problems for children, such as pain, changes to appearance, and muscle weakness.
View Article and Find Full Text PDFPlexiform Fibromyxoma in the Stomach: Immunohistochemical Profile and Comprehensive Genetic Characterization.
Int J Mol Sci
April 2024
Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione "G. Pascale", 80131 Napoli, Italy.
Plexiform fibromyxoma (PF), also referred to as plexiform angiomyxoid myofibroblast tumor, is an exceedingly rare mesenchymal neoplasm primarily affecting the stomach. Herein, we present a case of PF diagnosed in a 71-year-old male with a history of lung cancer, initially suspected to have a gastrointestinal stromal tumor (GIST) of the stomach, who subsequently underwent subtotal gastrectomy. The histopathological and molecular features of the tumor, including mutations in , , , , , and MALAT1-GLI1 fusion, are elucidated and discussed in the context of diagnostic, prognostic, and therapeutic considerations.
View Article and Find Full Text PDFNon-gastrointestinal stromal tumor, mesenchymal neoplasms of the gastrointestinal tract: a review of tumor genetics, pathology, and cross-sectional imaging findings.
Abdom Radiol (NY)
May 2024
Department of Abdominal Imaging, University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Unit 1473, Houston, TX, 77030, USA.
There is a diverse group of non-gastrointestinal stromal tumor (GIST), mesenchymal neoplasms of the gastrointestinal (GI) tract that demonstrate characteristic pathology and histogenesis as well as variable imaging findings and biological behavior. Recent advancements in tumor genetics have unveiled specific abnormalities associated with certain tumors, influencing their molecular pathogenesis, biology, response to treatment, and prognosis. Notably, giant fibrovascular polyps of the esophagus, identified through MDM2 gene amplifications, are now classified as liposarcomas.
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