咽部复发性克隆性放疗相关纤维上皮息肉:存在低级别放射源性间质肿瘤吗?病例报告。

IF 3.1 3区 医学 Q1 PATHOLOGY
Andrej Sirek, Ivana Bratic Hench, Jürgen Hench, Ilaria Alborelli, Markus W Gross, Jens Jakscha, Patrick Schaller, Gideon Nagel, Daniel Baumhoer, Alexandar Tzankov
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引用次数: 0

摘要

暴露于电离辐射后,可能出现各种各样的组织变化。这些变化大多属于非肿瘤范畴。然而,由于辐射对DNA的破坏作用,有发生继发性肿瘤的风险,通常是高级别肉瘤。在这里,我们提出一个老年男子谁发展复发性纤维上皮息肉的咽粘膜。他有同侧扁桃体鳞状细胞癌17年的病史,接受了完全手术切除和辅助放疗。组织学上,这些息肉包括相对明确的,部分侵蚀的粘膜突出物,纤维黏液样和炎症间质,缺乏明显的恶性征象。第4次复发提交DNA板测序,鉴定出PTEN, DNMT3A和TERT基因的三种致病变异,这些变异在放疗前不存在于局部正常组织中。在进一步的分析中,没有检测到众所周知的和确定的辐射引起的变化,如拷贝数(CN)的改变或辐射特征。临床表现和检测到的突变反对纯粹的反应性,而是一种可能的良性肿瘤过程,被认为是在放射后发生的,没有明确的恶性证据(无异型性,无侵袭性生长,平坦的CN谱)。本病例报告提高了人们对放疗与随后出现的良性低级别粘膜软组织肿瘤之间可能存在关联的认识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recurrent clonal radiotherapy-associated fibroepithelial polyp of the pharynx: do low grade radiogenic stromal tumours exist? Case report.

There is a wide range of tissue changes that may arise after exposition to ionizing radiation. Most of these changes fall in the non-neoplastic category. Nevertheless, due to the damaging effect radiation has on the DNA, there is a risk of developing secondary tumours, usually high-grade sarcomas. Here, we present a case of an elderly man who developed recurrent fibroepithelial polyps of the pharyngeal mucosa. He had a history of ipsilateral squamous cell carcinoma of the tonsil 17 years before treated by complete surgical resection followed by adjuvant radiotherapy. Histologically, these polyps consisted of relatively well-defined, partially eroded mucosal projections with a fibro-myxoid and inflamed stroma lacking evident signs of malignancy. The 4th recurrence was submitted to DNA panel sequencing, which identified three pathogenic variants in the PTEN, DNMT3A, and TERT genes that were not present in the local normal tissue before radiotherapy. On further analysis, well-known and established radiation induced changes such as copy number (CN) alterations or a radiation signature were not detected. The clinical presentation and the mutations detected argue against a purely reactive, but rather a likely benign neoplastic process that is thought to have developed post-actinically, without clear evidence of malignancy (absence of atypia, no invasive growth, flat CN profile). This case report raises awareness of a possible association between radiotherapy and the subsequent development of a benign-appearing low-grade mucosal soft tissue neoplasm.

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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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