Abstract：
A 71-year-old man with neurofibromatosis type 1 (NF1) presented to our department with a 1-week history of a painful mass in the left submandibular area. Computed tomography (CT) and magnetic resonance imaging revealed an irregular-shaped tumor with a diameter of 2.0 cm in the left submandibular gland and a metastatic lymph node with a diameter of 1.0 cm adjacent to the tumor. Fluorodeoxyglucose-positron emission tomography/CT revealed increased uptake in the tumor. Fine-needle aspiration cytology revealed atypical cells, suggesting salivary duct carcinoma (SDC). Left neck dissection with resection of the tumor and submandibular gland was performed under general anesthesia. Histologic examination revealed ductal formation with a solid, cystic, cribriform, and papillary structure with intraductal comedonecrosis, diagnosing as SDC originating in the submandibular gland (pT3N1M0 pStage III). Mutational analysis of 160 cancer-related genes by next-generation sequencing (NGS) revealed a germline and frameshift mutation in the NF1 gene (p.R2408Kfs*14) and a somatic and frameshift mutation in the TP53 gene (p.C176Wfs*22). The patient received postoperative radiotherapy to the left neck area at 66 Gy. No evidence of recurrence or metastasis has been observed as of 10 months postoperatively. This is the first reported case of SDC in the submandibular gland in a patient with NF1. The mutational data by NGS may contribute to a better understanding of the oncogenesis of SDC in patients with NF1.
摘要：
一名71岁的1型神经纤维瘤病（NF1）患者出现在我们部门，其左侧颌下区域有1周的疼痛性肿块。计算机断层扫描（CT）和磁共振成像显示，左侧下颌下腺有一个直径为2.0cm的不规则形状的肿瘤，肿瘤附近有一个直径为1.0cm的转移性淋巴结。氟脱氧葡萄糖-正电子发射断层扫描/CT显示肿瘤的摄取增加。细针穿刺细胞学检查显示异型细胞,提示涎腺导管癌（SDC）。在全身麻醉下进行左颈淋巴结清扫术，切除肿瘤和下颌下腺。组织学检查显示导管形成有固体，囊性的,cribriform,乳头状结构伴导管内粉刺坏死，诊断为起源于颌下腺的SDC（pT3N1M0pStageIII）。通过下一代测序（NGS）对160个癌症相关基因进行突变分析，发现NF1基因中存在种系和移码突变（第R2408Kfs*14）和TP53基因中的体细胞和移码突变（p。C176Wfs*22)。患者在66Gy时接受了左颈部区域的术后放疗。术后10个月未观察到复发或转移的证据。这是NF1患者下颌下腺SDC的首例报道。NGS的突变数据可能有助于更好地了解NF1患者SDC的肿瘤发生。
