GLI1-Altered Mesenchymal Tumors With ACTB or PTCH1 Fusion: A Molecular and Clinicopathologic Analysis

Kerr, Darcy A.; Cloutier, Jeffrey M.; Margolis, Matthew; Mata, Douglas A.; Rodrigues Simoes, Nathalie J.; Faquin, William C.; Dias-Santagata, Dora; Chopra, Shefali; Charville, Gregory W.; Wangsiricharoen, Sintawat; Lazar, Alexander J.; Wang, Wei-Lien; Rosenberg, Andrew E.; Tse, Julie Y.

doi:10.1016/j.modpat.2023.100386

Cited by 7 publications

(1 citation statement)

References 37 publications

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“…Common gene fusions occur between GLI1 and other genes ( Table SII ). At present, the MALAT1-GLI1 gene fusion has been identified as one of the diagnostic criteria for gastroblastoma ( 20 ). Regardless of the concrete types of multi-gene fusion, inhibition of HH can be used as a general treatment method.…”

Section: Genome Instability Mutationsmentioning

confidence: 99%

Hedgehog pathway and cancer: A new area (Review)

Shen,

Xia,

et al. 2024

Oncol Rep

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In years of research on classical pathways, the composition, information transmission mechanism, crosstalk with other pathways, and physiological and pathological effects of hedgehog (HH) pathway have been gradually clarified. HH also plays a critical role in tumor formation and development. According to the update of interpretation of tumor phenotypes, the latest relevant studies have been sorted out, to explore the specific mechanism of HH pathway in regulating different tumor phenotypes through gene mutation and signal regulation. The drugs and natural ingredients involved in regulating HH pathway were also reviewed; five approved drugs and drugs under research exert efficacy by blocking HH pathway, and at least 22 natural components have potential to treat tumors by HH pathway. Nevertheless, there is a deficiency of existing studies. The present review confirmed the great potential of HH pathway in future cancer treatment with factual basis.

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Section: Genome Instability Mutationsmentioning

confidence: 99%

Hedgehog pathway and cancer: A new area (Review)

Shen,

Xia,

et al. 2024

Oncol Rep

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GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review

Zhang,

Yang,

et al. 2024

Genes Chromosomes & Cancer

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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. Abdominal computed tomography (CT) showed a 3.3 cm mass in the stomach. She underwent laparoscopic partial gastrectomy. Immunohistochemistry (IHC) of the tumor revealed strongly positive staining for CD34, SDHB, STAT6, MDM2, and CDK4. And the tumor showed TP53 mutant expression. Next‐generation sequencing (NGS) comprehensive genomic profiling identified GLI1, CDK4, and MDM2 co‐amplification and TP53 mutations. Here, we first report a case of a young woman with a PF harboring co‐amplification of GLI1, CDK4, and MDM2 genes. The patient underwent complete removal of the tumor without the use of radiotherapy or chemotherapy. No recurrence was observed during the follow‐up period of 8 months. This study aims to improve our understanding of PF by analyzing the clinicopathological characteristics of this case, including immunohistochemical (IHC) and genetic examination, and reviewing relevant literature.

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