病例报告:1例腭裂黏液表皮样癌透明细胞变异伴MAML2基因重排的儿童病例。

IF 2.1 3区 医学 Q2 PEDIATRICS
Frontiers in Pediatrics Pub Date : 2025-07-03 eCollection Date: 2025-01-01 DOI:10.3389/fped.2025.1600823
Hengkun Wang, Xiaoya Wang
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引用次数: 0

摘要

透明细胞型粘液表皮样癌(MEC)是一种罕见的亚型,儿童病例极为罕见。一个13岁的女孩提出了病变的右上颚,这已经注意到3个月。病人报告肿瘤疼痛、破裂和出血将近一个月。计算机断层扫描显示右侧硬腭有一个准圆形软组织肿块。镜下肿瘤细胞以透明细胞为主,粘液细胞分散。肿瘤细胞角蛋白(CK)、CK7、CK5/6、上皮膜抗原、P63、P40阳性。荧光原位杂交技术在肿瘤细胞中发现了一个mastermind-like transcriptional coactivator 2 (MAML2) (11q21)基因的重排。组织学特征支持MEC透明细胞变异的诊断,中等级别,肿瘤分期为pT1N0M0。患者接受了腭肿块的完全切除,随后进行了浅表骨切除。术后患者恢复良好,随访1年无复发。基于反复的病理评估,我们报告这一罕见的儿科病例透明细胞变异的腭MEC。只有手术切除获得了良好的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case Report: A pediatric case of the clear-cell variant of mucoepidermoid carcinoma in the palate harboring MAML2 gene rearrangement.

The clear-cell variant of mucoepidermoid carcinoma (MEC) is a rare subtype, with pediatric cases being extremely rare. A 13-year-old girl presented with a lesion on the right palate, which had been noted for 3 months. The patient reported pain, rupture, and bleeding of the tumor for nearly a month. Computed tomography scans revealed a quasi-circular soft tissue mass on the right hard palate. Microscopically, the tumor cells showed predominant clear cells and scattered mucous cells. The tumor cells were positive for cytokeratin (CK), CK7, CK5/6, epithelial membrane antigen, P63, and P40. A rearrangement of mastermind-like transcriptional coactivator 2 (MAML2) (11q21) gene was identified in the tumor cells by fluorescence in situ hybridization. The histological features supported a diagnosis of clear-cell variant of MEC, medium grade, with a tumor stage of pT1N0M0. The patient underwent a complete excision of the palatal mass followed by superficial bone removal. After surgery, the patient recovered well and was recurrence-free at the 1-year follow-up. Based on repeated pathological evaluations, we report this rare pediatric case of a clear-cell variant of MEC of the palate. Only surgical resection resulted in a favorable outcome.

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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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