Chio Chan-Fong, Sam Wan-Pang, Wong Sio-In, Sio Cheong-Un, Kok Lai-Fong, Pai Ki-Man, Hlaing Thazin
Department of Anatomical Pathology, Conde de São Januário Hospital, Macao SAR, China.
Department of Otorhinolaryngology, Conde de São Januário Hospital, Macao SAR, China.
SAGE Open Med Case Rep. 2024 Sep 30;12:2050313X241281323. doi: 10.1177/2050313X241281323. eCollection 2024.
Mucoepidermoid carcinoma is one of the most common malignant tumors in salivary glands and is usually associated with mastermind-like transcriptional coactivator 2 (MAML2) rearrangement. Primary nasopharyngeal mucoepidermoid carcinoma is extremely rare, and MAML2 status was reported in only two studies. Herein, we present a 70-year-old male patient with incidentally found nasopharyngeal mucoepidermoid carcinoma. MAML2 translocation was detected by fluorescence in situ hybridization test. Additionally, we conducted a comprehensive literature review and summarized the clinicopathological features of this rare condition. Nasopharyngeal mucoepidermoid carcinoma shows a similar mean age at diagnosis and gender ratio to those of mucoepidermoid carcinoma in salivary glands. More than half of the patients exhibit high histologic grade at the time of diagnosis. As MAML2 status is unreported in almost all published cases, further studies are needed to explore the incidence and prognostic value of MAML2 rearrangement in nasopharyngeal mucoepidermoid carcinoma.
黏液表皮样癌是唾液腺最常见的恶性肿瘤之一，通常与主脑样转录共激活因子2（MAML2）重排相关。原发性鼻咽黏液表皮样癌极为罕见，仅有两项研究报道了MAML2状态。在此，我们报告一名70岁男性患者，偶然发现患有鼻咽黏液表皮样癌。通过荧光原位杂交检测发现了MAML2易位。此外，我们进行了全面的文献综述，并总结了这种罕见疾病的临床病理特征。鼻咽黏液表皮样癌在诊断时的平均年龄和性别比例与唾液腺黏液表皮样癌相似。超过一半的患者在诊断时表现为高组织学分级。由于几乎所有已发表的病例均未报告MAML2状态，因此需要进一步研究以探讨MAML2重排在鼻咽黏液表皮样癌中的发生率和预后价值。
