在楔形亚型多形性腺癌中发现新型基因融合体 YLPM1::PRKD1

IF 3.2 Q2 PATHOLOGY

Head & Neck Pathology Pub Date : 2024-05-13 DOI:10.1007/s12105-024-01648-z

Monica Miyakawa-Liu, Michael G Ozawa, Michelle Chen, Mobeen Rahman

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引用次数: 0

摘要

唾液腺楔形腺癌（CASG）是一种实体瘤，根据 2022 年世界卫生组织头颈部肿瘤分类，目前被归类为多形性腺癌（PAC），楔形亚型。由于 CASG 在解剖部位、临床表现和分子模式上与传统的 PAC 有所不同，因此关于 CASG 是否应被视为一个独立的诊断实体还存在争议。在本文中，我们描述了一例具有挑战性的独特病例，该病例在组织学和行为学上具有 CASG 和传统 PAC 的共同特征，同时伴有 YLPM1::PRKD1 重排，这在以前的文献中从未报道过。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A Novel Gene Fusion YLPM1::PRKD1 Identified in a Cribriform Subtype of Polymorphous Adenocarcinoma.

Cribriform adenocarcinoma of the salivary gland (CASG) is an entity that is currently classified under polymorphous adenocarcinoma (PAC), cribriform subtype per the 2022 WHO classification of head and neck tumours. There is debate about whether CASG should be considered a separate diagnostic entity, as CASG differs from conventional PAC in anatomic site, clinical behaviors, and molecular patterns. Herein we describe a challenging and unique case which shares histologic and behavioral features between CASG and conventional PAC with a YLPM1::PRKD1 rearrangement not previously reported in the literature.

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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.