[Gastric tumors with GLI1 gene alterations (plexiform fibromyxoma and gastroblastoma). Case report and literature review].

Q4 Medicine Arkhiv patologii Pub Date : 2025-01-01 DOI:10.17116/patol20258701137
I V Sidorov, A S Sharlai, D M Konovalov
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Abstract

Plexiform fibromyxoma (PFM) and gastroblastoma (GB) are rare gastric tumors with a specific MALAT1::GLI1 rearrangement, included in the conditional spectrum of neoplasms with alterations of the GLI1 gene. The article presents a clinical case of PFM in a 6-year-old girl and a literature review highlighting current data on the morphology, immunophenotype and molecular genetic characteristics of PFM and GB. Despite the common genetic anomaly, differences in the morphology and clinical course of these tumors indicate the need for further research to clarify their relationship and potential reclassification in the light of new data on tumors with GLI1 gene abnormalities. Integrating the accumulated knowledge about tumors with GLI1 gene alterations into diagnostic algorithms and therapeutic approaches will help improve the treatment outcomes of patients with these rare neoplasms.

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GLI1基因改变的胃肿瘤(丛状纤维黏液瘤和胃母细胞瘤)。病例报告及文献复习]。
丛状纤维黏液瘤(PFM)和胃母细胞瘤(GB)是一种罕见的胃肿瘤,具有特异性的MALAT1::GLI1重排,包括在GLI1基因改变的肿瘤条件谱中。本文报道1例6岁女童PFM的临床病例,并对PFM和GB的形态学、免疫表型和分子遗传学特征进行文献综述。尽管存在常见的遗传异常,但这些肿瘤在形态和临床病程上的差异表明,根据GLI1基因异常肿瘤的新数据,需要进一步研究以阐明它们之间的关系和可能的重新分类。将积累的关于GLI1基因改变肿瘤的知识整合到诊断算法和治疗方法中,将有助于改善这些罕见肿瘤患者的治疗效果。
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来源期刊
Arkhiv patologii
Arkhiv patologii Medicine-Pathology and Forensic Medicine
CiteScore
0.90
自引率
0.00%
发文量
55
期刊介绍: The journal deals with original investigations on pressing problems of general pathology and pathologic anatomy, newest research methods, major issues of the theory and practice as well as problems of experimental, comparative and geographic pathology. To inform readers latest achievements of Russian and foreign medicine the journal regularly publishes editorial and survey articles, reviews of the most interesting Russian and foreign books on pathologic anatomy, new data on modern methods of investigation (histochemistry, electron microscopy, autoradiography, etc.), about problems of teaching, articles on the history of pathological anatomy development both in Russia and abroad.
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