Department of Histopathology and Cytopathology, Rajiv Gandhi Cancer Institute & Research Centre, Delhi, 110085, India.
Department of Medical Oncology, Rajiv Gandhi Cancer Institute & Research Centre, Delhi, 110085, India.
Head Neck Pathol. 2024 Mar 8;18(1):16. doi: 10.1007/s12105-024-01614-9.
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.
随着分子免疫组织化学和下一代测序技术的出现，最近人们已经认识到 Switch/sucrose non-fermentable (SWI/SNF) 染色质重塑复合物改变的肿瘤。SWI/SNF 相关的、基质相关的、肌动蛋白依赖性染色质亚家族 B 成员 1（SMARCB1）和 SMARCA4 是几种最近在头颈部描述的未分化恶性肿瘤中主要改变的 SWI/SNF 成分，这些肿瘤偏爱于 SMARCB1 缺陷型肿瘤的副鼻窦和 SMARCA4 缺陷型肿瘤的鼻腔。然而，据我们所知，尚未描述口咽部的 SMARCA4 缺陷型肿瘤。我们报告了一例罕见的口咽部（腭扁桃体）SMARCA4 缺陷型癌，这是文献中的首例，扩大了头颈部 SMARCA4 缺陷型肿瘤的地域分布，并强调了 BRG1 作为这种独特实体诊断的重要免疫组织化学标志物的重要性。
