A Case of Acinic Cell Carcinoma with SYN2::PPARG Fusion.

IF 3.2 Q2 PATHOLOGY

Head & Neck Pathology Pub Date : 2024-10-17 DOI:10.1007/s12105-024-01715-5

Grace Dimbleby, Alessandro Rettino, Sanjay Jogai, Sathish Harinayanan, Nimesh Patel, Sobana Battison, Karwan Moutasim

引用次数: 0

Abstract

Acinic cell carcinoma (ACC) is a salivary gland malignancy most commonly arising in the parotid gland. It is the second most common salivary gland carcinoma in children. It is characterised by neoplastic cells with acinar morphology arranged in variably architectural features, including solid, cystic or follicular patterns. Conventional ACC typically has a low-grade clinical pattern, whereas high grade ACC exhibits a more aggressive clinical course with distant metastasis a high mortality rate. Most ACCs are characterised by gene rearrangements in the NR4A3 gene. Here, we present a case of high grade ACC lacking NR4A3 gene translocation but harbouring a hitherto undescribed SYN2::PPARG gene fusion of uncertain clinical significance. Clinical, radiological, histological and genomic features of the case are discussed alongside a brief review of the literature.

查看原文本刊更多论文

一例伴有 SYN2::PPARG 融合的醋酸细胞癌。

醋酸细胞癌（ACC）是一种唾液腺恶性肿瘤，最常见于腮腺。它是儿童中第二常见的唾液腺癌。其特征是具有针状形态的肿瘤细胞排列成不同的结构特征，包括实性、囊性或滤泡状。传统的 ACC 通常具有低级别临床模式，而高级别 ACC 的临床表现更具侵袭性，会发生远处转移，死亡率较高。大多数 ACC 的特征是 NR4A3 基因重排。在此，我们介绍了一例缺乏 NR4A3 基因易位但携带迄今尚未描述过的 SYN2::PPARG 基因融合的高级别 ACC，其临床意义尚不确定。本文讨论了该病例的临床、放射学、组织学和基因组学特征，并简要回顾了相关文献。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Head & Neck Pathology PATHOLOGY-

CiteScore

5.70

自引率

9.50%

发文量

期刊介绍： Head & Neck Pathology presents scholarly papers, reviews and symposia that cover the spectrum of human surgical pathology within the anatomic zones of the oral cavity, sinonasal tract, larynx, hypopharynx, salivary gland, ear and temporal bone, and neck. The journal publishes rapid developments in new diagnostic criteria, intraoperative consultation, immunohistochemical studies, molecular techniques, genetic analyses, diagnostic aids, experimental pathology, cytology, radiographic imaging, and application of uniform terminology to allow practitioners to continue to maintain and expand their knowledge in the subspecialty of head and neck pathology. Coverage of practical application to daily clinical practice is supported with proceedings and symposia from international societies and academies devoted to this field. Single-blind peer review The journal follows a single-blind review procedure, where the reviewers are aware of the names and affiliations of the authors, but the reviewer reports provided to authors are anonymous. Single-blind peer review is the traditional model of peer review that many reviewers are comfortable with, and it facilitates a dispassionate critique of a manuscript.