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肌上皮癌源于多形性腺瘤:罕见的被误诊为多形性腺瘤的病理;存在 TERT 启动子突变和 PD-L1 高表达。

Myoepithelial Carcinoma Ex-Pleomorphic Adenoma: A Rare Pathology Misdiagnosed as Pleomorphic Adenoma; With a Novel TERT Promoter Mutation and High PD-L1 Expression.

机构信息

Department of Pathology, University of New Mexico School of Medicine, University of New Mexico, MSC08 4640, Albuquerque, NM, 87131, USA.

出版信息

Head Neck Pathol. 2022 Mar;16(1):322-330. doi: 10.1007/s12105-021-01346-0. Epub 2021 Jun 14.

Abstract

Myoepithelial carcinoma (MECA) is a rare salivary gland (SG) neoplasm (0.1-0.45% of all SG tumors) that often presents with bland cytomorphology and can be misclassified as cellular pleomorphic adenoma (PA) or myoepithelioma. This is particularly challenging in MECA ex-PA cases, especially if tumor shows minimal to no capsular invasion. We report a rare case of a 76-year-old female; history of left superficial parotidectomy with diagnosis (outside hospital) of cellular PA, who re-presented 9 months post surgery with enlarging left parotid mass, neck lymphadenopathy and facial nerve deficits. FNAB of parotid and neck lymph node revealed cellular aspirates with loosely cohesive clusters of myoepithelial cells with occasional chondromyxoid stroma. Prior resection slides were reviewed, and diagnosis of MECA ex-PA was made. Patient underwent left radical parotidectomy, selective neck dissection, with facial nerve sacrifice (due to extensive encasing by tumor). Histology showed a multinodular tumor with pushing borders, zonal arrangement comprising of a hypocellular, necrotic/myxoid center, and a peripheral rim of myoepithelial cells, confirmed by positive S100, and p63. Tumor extensively infiltrated peri parotid soft tissues with multiple foci of lymphovascular and perineural invasion; and metastatic neck lymph nodes. Next generation sequencing revealed a novel TERT promoter mutation (c.-124C > T), not usually described in SG neoplasms. Further, PD-L1 immunohistochemistry showed positive expression, making patient eligible for anti-PDL-1 immunotherapy. This case highlights importance of recognizing the subtle malignant features of MECA in distinguishing it from benign mimics like PA. In addition, presence of TERT mutation opens a new arena for future research to explore potential treatment targets.

摘要

肌上皮癌(MECA)是一种罕见的唾液腺(SG)肿瘤(占所有 SG 肿瘤的 0.1-0.45%),其细胞学形态通常表现为温和,并且可能被误诊为细胞型多形性腺瘤(PA)或肌上皮瘤。在 MECA 源自 PA 的病例中,尤其是在肿瘤表现出最小至无包膜侵犯的情况下,这尤其具有挑战性。我们报告了一例罕见病例,患者为 76 岁女性;左腮腺浅叶切除术病史,诊断为(院外)细胞型 PA,术后 9 个月再次出现左侧腮腺肿块增大、颈部淋巴结病和面神经缺陷。腮腺和颈部淋巴结的细针抽吸显示出松散聚集的肌上皮细胞细胞团,偶尔伴有软骨黏液样基质的细胞抽吸物。回顾了先前的切除标本,诊断为源自 PA 的 MECA。患者接受了左侧根治性腮腺切除术、选择性颈部解剖术,同时牺牲了面神经(由于肿瘤广泛包裹)。组织学显示多结节性肿瘤,边界推挤,呈带状排列,包含一个细胞稀少、坏死/黏液样中心和外周的肌上皮细胞边缘,S100 和 p63 阳性证实了这一点。肿瘤广泛浸润腮腺周围软组织,伴有多个血管淋巴管和神经周围侵犯灶;以及转移性颈部淋巴结。下一代测序显示了一种新的 TERT 启动子突变(c.-124C > T),这种突变通常不在 SG 肿瘤中描述。此外,PD-L1 免疫组化显示阳性表达,使患者有资格接受抗 PD-L1 免疫治疗。本病例强调了在区分 MECA 与良性类似物如 PA 时,识别其微妙恶性特征的重要性。此外,TERT 突变的存在为未来探索潜在治疗靶点的研究开辟了新领域。

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