Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer.

IF 3.2 Q2 PATHOLOGY

Head & Neck Pathology Pub Date : 2024-03-08 DOI:10.1007/s12105-024-01614-9

Sunil Pasricha, Sumit Goyal, Meenakshi Kamboj, Himanshi Diwan, Munish Gairola, Jaskaran Singh Sethi, Manoj Gupta, Anurag Mehta

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Abstract

With the advent of molecular immunohistochemistry and next generation sequencing, Switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex altered tumors have gained recognition recently. SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1 (SMARCB1) and SMARCA4 are the primary SWI/SNF components altered in several recently described undifferentiated malignancies in head and neck region with predilection for paranasal sinuses in SMARCB1-deficient tumors and nasal cavity in SMARCA4-deficient tumors. However, to the best of our knowledge, SMARCA4-deficient tumors of the oropharynx have not been described. We present an unusual case of SMARCA4-deficient carcinoma of the oropharynx (palatine tonsil) which is the first case in the literature, expanding the topographic distribution of SMARCA4-deficient tumors in the head and neck region and emphasizing the importance of BRG1 as an essential immunohistochemical marker for the diagnosis of this distinct entity.

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原发性口咽 SMARCA4 基因缺陷癌：拓展头颈癌的诊断范围

随着分子免疫组织化学和新一代测序技术的出现，开关/蔗糖不发酵（SWI/SNF）染色质重塑复合体改变的肿瘤最近得到了认可。SWI/SNF相关、基质相关、肌动蛋白依赖的染色质亚家族B成员调节器1（SMARCB1）和SMARCA4是最近描述的几种头颈部未分化恶性肿瘤中发生改变的主要SWI/SNF成分，SMARCB1缺陷型肿瘤好发于副鼻窦，SMARCA4缺陷型肿瘤好发于鼻腔。然而，据我们所知，SMARCA4缺陷型口咽肿瘤尚未见报道。我们报告了一例不寻常的口咽（腭扁桃体）SMARCA4缺陷型癌，这在文献中尚属首例，扩大了SMARCA4缺陷型肿瘤在头颈部的地理分布，并强调了BRG1作为诊断这一独特实体的重要免疫组化标志物的重要性。

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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.

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