smarcb1缺乏鼻窦癌的临床病理和分子特征——一项来自单一机构队列的系统研究

IF 3.2 Q2 PATHOLOGY

Head & Neck Pathology Pub Date : 2025-05-14 DOI:10.1007/s12105-025-01788-w

Qinyuan Li, Tarek Abi-Saab, Andrey Prilutskiy, Vanessa Horner, Leah Frater-Rubsam, Yajing Peng, Wei Huang, Randall J Kimple, Paul M Harari, Ricardo V Lloyd, Rong Hu

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引用次数: 0

摘要

背景：smarcb1缺陷和smarca4缺陷鼻窦癌是罕见的，文献中只有少数系统的研究。在smarcb1缺失的肿瘤中有继发性EWSR1基因异常的报道。本研究旨在在单机构队列中系统地研究SWI/SNF复合物缺失的鼻窦癌，进行临床病理表征，并探索其潜在的分子机制。方法：对149例连续鼻窦癌的肿瘤组织进行INI1和BRG1的免疫组化（IHC）。采用单核苷酸多态性（SNP）阵列和EWSR1基因荧光原位杂交（FISH）技术对smarcb1缺失的鼻窦癌患者进行分析。研究临床病理特征。结果：149例鼻窦癌中，7例（4.7%）出现SMARCB1缺失，而没有一例出现SMARCA4缺失。所有患者均为男性，均表现为晚期肿瘤。4例smarcb1缺陷鼻窦癌表现为基底细胞样形态，2例表现为嗜酸性肿瘤形态，1例表现为混合形态。纯合型和杂合型SMARCB1缺失分别占4/6和2/6。在4例病例中观察到涉及SMARCB1基因邻近基因的杂合子丢失，包括EWSR1。一个肿瘤显示整个22q染色体杂合缺失。EWSR1 FISH检测结果显示，这5例患者均存在一致的杂合EWSR1缺失。结论：在这个单机构队列中，smarca1缺陷型肿瘤占鼻窦癌的4.7%，而smarca4缺陷型肿瘤更为罕见，未发现一例。smarcb1缺陷鼻窦癌表现出广泛的形态学和免疫组织化学特征。这些癌表现出复杂的遗传改变，在大多数病例中存在纯合子SMARCB1缺失。

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Clinicopathologic and Molecular Characterization of SMARCB1-Deificient Sinonasal Carcinomas -A Systematic Study from a Single Institution Cohort.

Background: SMARCB1-deficient and SMARCA4-deficient sinonasal carcinomas are rare, with only a few systematic studies available in the literature. Secondary EWSR1 gene abnormalities have been reported in SMARCB1-deficient tumors. This study aimed to systematically investigate SWI/SNF complex-deficient sinonasal carcinomas in a single-institution cohort, perform clinicopathologic characterization, and explore the underlying molecular mechanisms.

Method: Immunohistochemistry (IHC) of INI1 and BRG1 was performed on tissue microarrays containing tumor tissue from 149 consecutive sinonasal carcinomas. Single nucleotide polymorphism (SNP) array and EWSR1 gene fluorescence in situ hybridization (FISH) analyses were conducted on SMARCB1-deficient sinonasal carcinomas. Clinicopathologic characterization was studied.

Result: Of the 149 sinonasal carcinomas, 7 (4.7%) showed SMARCB1 loss, while none demonstrated SMARCA4 loss. All patients were male and presented with advanced-stage tumors. Four SMARCB1-deficient sinonasal carcinomas exhibited basaloid morphology, two displayed eosinophilic tumor morphology, and one had mixed morphology. Homozygous and heterozygous SMARCB1 deletions were identified in 4/6 and 2/6 cases respectively. Heterozygous loss involving genes neighboring SMARCB1 gene, including EWSR1, was observed in four cases. One tumor showed a heterozygous loss of the entire chromosome 22q. EWSR1 FISH assay revealed concordant heterozygous EWSR1 loss in these five cases.

Conclusion: SMARCB1-deficient carcinomas account for 4.7% of sinonasal carcinomas in this single-institution cohort, while SMARCA4-deficient tumors are even rarer, with none identified. SMARCB1-deficient sinonasal carcinomas exhibit a broad spectrum of morphologic and immunohistochemical features. These carcinomas show complex genetic alterations, with homozygous SMARCB1 deletions present in the majority of cases.

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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.