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一名2岁男孩患伴有经典MAML2基因重排的支气管黏液表皮样癌

Bronchial Mucoepidermoid Carcinoma With the Classic MAML2 Gene Rearrangement in a 2-year-old Boy.

作者信息

Szymanski Linda J, Molas-Torreblanca Kira, Bawab Ramzi, Kim Eugene, Don Debra, Mascarenhas Leo, Stanley Phillip, Zhou Shengmei, Shillingford Nick

机构信息

1 Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

2 Keck School of Medicine, University of Southern California, Los Angeles, California.

出版信息

Pediatr Dev Pathol. 2018 Sep-Oct;21(5):480-485. doi: 10.1177/1093526617707855. Epub 2017 May 11.

Abstract

Pulmonary mucoepidermoid carcinoma (PMEC) is rare. To date, primary PMEC has not been reported in a child younger than 3 years of age. We report a case of a 2-year-old boy who presented with 3 episodes of wheezing, cough, and fever over a period of 1 month. Radiologic findings were consistent with foreign body aspiration with consequent bronchial obstruction. Bronchoscopy was performed and attempts to retrieve the foreign body resulted in a biopsy of a fleshy lesion. By histology, the lesion was an epithelial neoplasm comprising cells arranged in a nested pattern. The neoplastic cells were round with round nuclei and amphophilic, vacuolated cytoplasm. Our diagnosis was low-grade salivary gland-type carcinoma of the bronchus. The pneumonectomy specimen showed a well-circumscribed, polypoid intrabronchial mass measuring 2.1 cm in greatest dimension. Histologic examination of the tumor showed an admixture of intermediate cells which were predominant, a small number of mucus cells and rare foci of squamous cells. The final diagnosis rendered was a low-grade mucoepidermoid carcinoma of the bronchus. Accurate diagnosis of PMEC can be challenging on limited biopsy material as seen in the case reported here. The use of molecular studies such as MAML2 gene rearrangement may facilitate diagnosis in difficult cases. Increased awareness of this entity and further molecular studies are needed for a better understanding of the pathogenesis of PMEC. To date, the reported age range for primary bronchial mucoepidermoid carcinoma is between 3 years and 78 years. This case represents the youngest patient reported in the English literature.

摘要

肺黏液表皮样癌(PMEC)较为罕见。迄今为止,尚未有3岁以下儿童原发性PMEC的报道。我们报告一例2岁男孩,在1个月内出现3次喘息、咳嗽和发热。影像学检查结果与异物吸入导致支气管阻塞相符。进行了支气管镜检查,在试图取出异物时对一个肉质病变进行了活检。组织学检查显示,该病变为上皮性肿瘤,细胞呈巢状排列。肿瘤细胞呈圆形,核圆形,胞质嗜双色、有空泡。我们的诊断是支气管低度唾液腺型癌。肺切除标本显示一个边界清楚的息肉样支气管内肿物,最大径为2.1 cm。肿瘤的组织学检查显示,以中间细胞为主,混有少量黏液细胞和罕见的鳞状细胞灶。最终诊断为支气管低度黏液表皮样癌。正如本病例报告所示,在有限的活检材料上准确诊断PMEC可能具有挑战性。使用诸如MAML2基因重排等分子研究可能有助于疑难病例的诊断。需要提高对该实体的认识并进行进一步的分子研究,以更好地了解PMEC的发病机制。迄今为止,原发性支气管黏液表皮样癌的报道年龄范围为3岁至78岁。本病例是英文文献中报道的最年轻患者。

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