Chunyan Hu, Lan Lin, Ming Ye, Yifeng Liu, Qiang Huang, Cuncun Yuan, Ji Sun, Hui Sun
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Based on morphological and fluorescence in situ hybridization (FISH) analyses, 30 tumors originally diagnosed as MECs were separated into MAML2 fusion-positive (7 cases) and MAML2 fusion-negative groups (23 cases), in which 14 tumors were positive for the EWSR1::ATF1 fusion; these tumors were reclassified to have hyalinizing clear cell carcinoma (HCCC). The remaining nine MAML2 FISH negative cases were reconfirmed as squamous cell carcinoma (SCC, 3 cases) which showed keratinization and high Ki-67 expression; DEK::AFF2 carcinomas (2 cases), in which DEK gene rearrangement was detected by FISH; and MECs as previously described (4 cases) with typical morphological features. Including 7 MAML2 rearrangements tumors, 11 MEC cases had a male-to-female ratio of 4.5:1, and 6 tumors arose from the nasopharyngeal region, while 5 tumors arose from the sinonasal region. The prognosis of this series of salivary gland-type MECs was favorable. Our study confirmed that HCCC runs the risk of being misdiagnosed as MEC in the sinonasal tract and nasopharynx, particularly with biopsy specimens. 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引用次数: 0
摘要
鼻窦道和鼻咽的原发性粘液表皮样癌(MECs)是一种罕见的实体肿瘤,尤其是活检样本的诊断是一个难题。在此,我们对鼻窦和颅底的原发性大肠埃希氏腺癌及其类似物进行了病例系列研究,以评估其临床病理和分子特征,从而避免误诊。我们回顾了2014年至2022年期间确诊患者的病理记录。在此期间连续确诊了30例MEC。根据形态学和荧光原位杂交(FISH)分析,将最初诊断为MEC的30例肿瘤分为MAML2融合阳性组(7例)和MAML2融合阴性组(23例),其中14例肿瘤的EWSR1::ATF1融合阳性;这些肿瘤被重新分类为透明透明细胞癌(HCCC)。其余 9 例 MAML2 FISH 阴性病例被重新确认为鳞状细胞癌(SCC,3 例),表现为角化和高 Ki-67 表达;DEK::AFF2 癌(2 例),其中通过 FISH 检测到 DEK 基因重排;以及之前描述的具有典型形态特征的 MECs(4 例)。包括7例MAML2基因重排肿瘤在内,11例MEC的男女比例为4.5:1,6例肿瘤来自鼻咽部,5例肿瘤来自鼻窦部。这一系列唾液腺型 MEC 的预后良好。我们的研究证实,HCCC 有可能被误诊为鼻窦道和鼻咽部的 MEC,尤其是活检标本。仔细的组织学评估和辅助的分子检测有助于病理诊断。
Re-evaluating a historic cohort of sinonasal and skull base mucoepidermoid carcinoma: an institutional experience
Primary mucoepidermoid carcinomas (MECs) of the sinonasal tract and nasopharynx are rare entities that represent a diagnostic challenge, especially in biopsy samples. Herein, we present a case series of MECs of the sinonasal and skull base and its mimics to evaluate the clinicopathological and molecular characteristics in order to avoid misdiagnosis. We reviewed the pathology records of patients diagnosed from 2014 to 2022. Thirty MECs were consecutively diagnosed during that period. Based on morphological and fluorescence in situ hybridization (FISH) analyses, 30 tumors originally diagnosed as MECs were separated into MAML2 fusion-positive (7 cases) and MAML2 fusion-negative groups (23 cases), in which 14 tumors were positive for the EWSR1::ATF1 fusion; these tumors were reclassified to have hyalinizing clear cell carcinoma (HCCC). The remaining nine MAML2 FISH negative cases were reconfirmed as squamous cell carcinoma (SCC, 3 cases) which showed keratinization and high Ki-67 expression; DEK::AFF2 carcinomas (2 cases), in which DEK gene rearrangement was detected by FISH; and MECs as previously described (4 cases) with typical morphological features. Including 7 MAML2 rearrangements tumors, 11 MEC cases had a male-to-female ratio of 4.5:1, and 6 tumors arose from the nasopharyngeal region, while 5 tumors arose from the sinonasal region. The prognosis of this series of salivary gland-type MECs was favorable. Our study confirmed that HCCC runs the risk of being misdiagnosed as MEC in the sinonasal tract and nasopharynx, particularly with biopsy specimens. Careful histological evaluation with supporting molecular testing can facilitate pathological diagnoses.