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一种新型基因融合 YLPM1::PRKD1 在多形性腺癌的筛状亚型中被发现。

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

机构信息

Department of Pathology, Stanford University School of Medicine, Stanford, USA.

Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, USA.

出版信息

Head Neck Pathol. 2024 May 13;18(1):43. doi: 10.1007/s12105-024-01648-z.

DOI:10.1007/s12105-024-01648-z
PMID:38735907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11089030/
Abstract

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.

摘要

涎腺筛状腺癌(CASG)是一种目前被归类为多形性腺癌(PAC)、筛状亚型的实体,根据 2022 年世界卫生组织头颈部肿瘤分类。关于 CASG 是否应被视为一个独立的诊断实体存在争议,因为 CASG 在解剖部位、临床行为和分子模式上与传统的 PAC 不同。在此,我们描述了一个具有挑战性和独特性的病例,该病例在组织学和行为特征上同时具有 CASG 和传统 PAC 的特征,并伴有 YLPM1::PRKD1 重排,这在文献中尚未报道过。

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A Novel Gene Fusion YLPM1::PRKD1 Identified in a Cribriform Subtype of Polymorphous Adenocarcinoma.一种新型基因融合 YLPM1::PRKD1 在多形性腺癌的筛状亚型中被发现。
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2
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本文引用的文献

1
Comprehensive Molecular Characterization of Polymorphous Adenocarcinoma, Cribriform Subtype: Identifying Novel Fusions and Fusion Partners.多形性腺癌,筛状亚型的全面分子特征:鉴定新的融合基因及其融合伙伴。
Mod Pathol. 2023 Nov;36(11):100305. doi: 10.1016/j.modpat.2023.100305. Epub 2023 Aug 17.
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Harmonizing model organism data in the Alliance of Genome Resources.在基因组资源联盟中协调模式生物数据。
Genetics. 2022 Apr 4;220(4). doi: 10.1093/genetics/iyac022.
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Cribriform adenocarcinoma of the tongue and minor salivary glands: a systematic review of an uncommon clinicopathological entity.舌和小唾液腺筛状腺癌:一种罕见的临床病理实体的系统回顾。
Eur Arch Otorhinolaryngol. 2022 Jun;279(6):2719-2725. doi: 10.1007/s00405-021-07140-6. Epub 2021 Oct 23.
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Polymorphous Adenocarcinoma.多形性腺癌。
Surg Pathol Clin. 2021 Mar;14(1):127-136. doi: 10.1016/j.path.2020.09.011. Epub 2021 Jan 5.
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The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic carcinoma and pleomorphic adenoma on FNA.PRKD1 E710D 热点突变在 FNA 中对分离腭部多形性腺癌、腺样囊性癌和多形性腺瘤具有高度特异性。
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Mol Cancer Ther. 2010 May;9(5):1136-46. doi: 10.1158/1535-7163.MCT-09-1145. Epub 2010 May 4.
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Protein kinase D mediates a stress-induced NF-kappaB activation and survival pathway.蛋白激酶D介导应激诱导的核因子κB激活和生存途径。
EMBO J. 2003 Jan 2;22(1):109-20. doi: 10.1093/emboj/cdg009.