Department of Pathology, Eye & ENT Hospital, Fudan University, 2600 Jiangyue Road, Shanghai, 201112, China.
Department of Radiotherapy, Fudan University Shanghai Cancer Center, 270 Dongan Road, Shanghai, 200032, China.
Diagn Pathol. 2024 Mar 1;19(1):46. doi: 10.1186/s13000-024-01466-5.
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.
鼻腔鼻窦和鼻咽的原发性黏液表皮样癌（MEC）是罕见的实体瘤，具有诊断挑战性，尤其是在活检样本中。在此，我们报告了鼻腔鼻窦和颅底 MEC 及其模拟物的病例系列，以评估其临床病理和分子特征，避免误诊。
我们回顾了 2014 年至 2022 年期间诊断为 MEC 的患者的病理记录。在此期间，连续诊断了 30 例 MEC。
根据形态学和荧光原位杂交（FISH）分析，最初诊断为 MEC 的 30 个肿瘤被分为 MAML2 融合阳性（7 例）和 MAML2 融合阴性组（23 例），其中 14 个肿瘤为 EWSR1::ATF1 融合阳性；这些肿瘤被重新分类为透明细胞癌（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），通过 FISH 检测到 DEK 基因重排；以及以前描述的 MEC（4 例），具有典型的形态特征。包括 7 例 MAML2 重排肿瘤，11 例 MEC 病例的男女比例为 4.5:1，6 例肿瘤发生于鼻咽部，5 例肿瘤发生于鼻腔鼻窦。该系列涎腺型 MEC 的预后良好。
我们的研究证实，HCCC 在鼻腔鼻窦和鼻咽中存在被误诊为 MEC 的风险，尤其是在活检标本中。仔细的组织学评估结合支持的分子检测有助于病理诊断。
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