Le Hieu Trong, Nguyen Truong P X, Hirokawa Mitsuyoshi, Katoh Ryohei, Mitsutake Norisato, Matsuse Michiko, Sako Ayaka, Kondo Tetsuo, Vasan Nilesh, Kim Young Mi, Liu Ying, Hassell Lewis, Kakudo Kennichi, Vuong Huy Gia
Department of Pathology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, 700-000, Vietnam.
Department of Pathology, Chulalongkorn University, Krung Thep Maha Nakhon , Bangkok, 10300, Thailand.
Endocr Pathol. 2023 Mar;34(1):100-111. doi: 10.1007/s12022-022-09741-1. Epub 2022 Nov 17.
Mucoepidermoid carcinoma (MEC) and sclerosing MEC with eosinophilia (SMECE) are rare primary thyroid carcinomas. In this study, we aimed to present our multicenter series of MEC and SMECE and integrated our data with published literature to further investigate the clinicopathological characteristics and prognoses of these tumors. We found 2 MECs and 4 SMECEs in our multicenter archives. We performed fluorescence in situ hybridization (FISH) to determine the MAML2 gene rearrangement. We screened for mutations in BRAF, TERT promoter, and RAS mutations using Sanger sequencing and digital polymerase chain reaction. Histopathologically, MECs and SMECEs were composed of two main cell types including epidermoid and mucin-secreting cells, arranged in cords, nests, and tubules. SMECEs were characterized by a densely sclerotic stroma with abundant eosinophils. We did not detect any MAML2 fusion in any of our cases. Two MEC cases harbored concomitant BRAF p.V600E and TERT C228T mutations. RAS mutations were absent in all cases. Concurrent foci of another thyroid malignancy were more commonly seen in MECs (p < 0.001), whereas SMECEs were associated with chronic lymphocytic thyroiditis (p < 0.001). MECs and SMECEs had equivalent recurrence-free survival (RFS) but MECs conferred significantly dismal disease-specific survival (DSS) as compared to SMECEs (p = 0.007). In conclusion, MECs and SMECEs not only shared some similarities but also demonstrated differences in clinicopathological characteristics, prognoses, and molecular profiles. SMECEs had a superior DSS in comparison to MECs, suggesting that they are low-grade cancers. This could help clinicians better evaluate patient outcomes and decide appropriate treatment plans.
黏液表皮样癌(MEC)和伴嗜酸性粒细胞增多的硬化性黏液表皮样癌(SMECE)是罕见的原发性甲状腺癌。在本研究中,我们旨在展示我们多中心系列的MEC和SMECE病例,并将我们的数据与已发表的文献相结合,以进一步研究这些肿瘤的临床病理特征和预后。我们在多中心档案中发现了2例MEC和4例SMECE。我们进行了荧光原位杂交(FISH)以确定MAML2基因重排。我们使用桑格测序和数字聚合酶链反应筛选BRAF、TERT启动子和RAS突变。组织病理学上,MEC和SMECE由两种主要细胞类型组成,包括表皮样细胞和黏液分泌细胞,排列成条索状、巢状和小管状。SMECE的特征是有密集的硬化性间质,伴有大量嗜酸性粒细胞。我们在任何病例中均未检测到任何MAML2融合。2例MEC病例同时存在BRAF p.V600E和TERT C228T突变。所有病例均未检测到RAS突变。在MEC中更常见同时存在另一种甲状腺恶性肿瘤病灶(p<0.001),而SMECE与慢性淋巴细胞性甲状腺炎相关(p<0.001)。MEC和SMECE的无复发生存期(RFS)相当,但与SMECE相比,MEC的疾病特异性生存率(DSS)明显较差(p = 0.007)。总之,MEC和SMECE不仅有一些相似之处,而且在临床病理特征、预后和分子谱方面也存在差异。与MEC相比,SMECE的DSS更好,表明它们是低级别癌症。这有助于临床医生更好地评估患者预后并决定合适的治疗方案。