Metastasis from lung carcinoma to the sphenoid bone is rare. Patients with symptoms related to sphenoid bone metastasis as the initial presentation of carcinoma are thus also rare. Herein, we report the case of a patient presenting with only cheek dysesthesia as the first sign of lung adenocarcinoma. The 74-year-old woman presented with a 2-month history of left cheek dysesthesia. CT showed a tumor around 2.5 cm in diameter with heterogeneous enhancement of the central focus at the left foramen rotundum in the sphenoid bone. We endoscopically biopsied the tumor through the left sphenoid sinus. Results of histologic examination were consistent with lung adenocarcinoma. FDG-PET/CT analysis demonstrated lung carcinoma that had already metastasized to mediastinal lymph nodes and multiple bones, such as the ribs and lumbar vertebras, in addition to the sphenoid bone. As EGFR gene mutation (p.L858R) was identified, the patient was treated with oral gefinitib. This treatment proved quite effective, and the patient remains alive without tumor growth as of 18 months.
The opsoclonus-myoclonus syndrome (OMS) is characterized by subacute onset of opsoclonus, a disorder associated with saccadic eye movements causing involuntary, chaotic saccades that occur in all directions in combination with myoclonus of the neck and trunk and sign of cerebellar ataxia, especially related to the inability to stand and walk.
Warthin’s tumor is the second most commonly occurring benign parotid tumor. As compared to malignant transformation of a pleomorphic adenoma, carcinoma arising from a Warthin’s tumor is extremely rare. A 77-year-old man presented with a slow-growing left upper neck mass. Enhanced CT showed that the mass consisted of 4 tumors, including 2 low-density tumors with capsules on the anterior aspect, 1 heterogeneously enhancing tumor with a capsule, also on the posterior aspect, and 1 irregularly shaped tumor at the center of the other 3 tumors. The diagnosis could not be established preoperatively, because fine needle aspiration cytology suggested a benign tumor, and FDG-PET/CT revealed accumulation in the tumor. We performed partial parotidectomy and neck dissection of level I, II and III lymph nodes, including the tumors. Histopathology revealed the diagnosis of intermediate-grade mucoepidermoid carcinoma in the 2 low-density tumors on the anterior aspect, and the heterogeneously enhancing tumor with a capsule on the posterior aspect was found to be a Warthin’s tumor. A transitional zone between the mucoepidermoid carcinoma and the Warthin’s tumor was observed in the irregularly shaped tumor at the center. FDG-PET/CT excluded the presence of malignancy in any other tumor other than the tumor we treated. Therefore, we concluded that the mucoepidermoid carcinoma arose from the Warthin’s tumor (pT3N0M0, Stage III). Without any additional treatment, the patient has shown no recurrence and been alive for a year now. Thus, it appears that we performed the appropriate surgery for the intermediate-grade mucoepidermoid carcinoma. To date, only 21 cases of mucoepidermoid carcinoma arising in a Warthin’s tumor have been reported in the literature. All the cases were treated with surgery and showed a favorable prognosis.
Thyroid carcinoma (TC) has characteristic genetic alterations, including point mutations in proto-oncogenes and chromosomal rearrangements that vary by histologic subtype. Recent developments in next-generation sequencing (NGS) technology enable simultaneous analysis of cancer-associated genes of interest, thus improving diagnostic accuracy and allowing precise personalized treatment for human cancer. A total of 50 patients who underwent thyroidectomy between 2014 and 2016 at Hokuto Hospital were enrolled. Total DNA was extracted from formalin-fixed, paraffin-embedded tissue sections and quantified. Targeted regions of 24 cancer-associated genes were amplified by PCR, barcoded and sequenced using an Illumina MiSeq platform. Subjects included 30 patients with papillary carcinoma (PC), two with PC tall cell variant (TVPC), two with PC follicular variant (FVPC), eight with follicular carcinoma, seven with poorly differentiated carcinoma (PDC), and one with anaplastic carcinoma (AC). The BRAF V600E mutation was present in 25 of 30 (83%) patients with PC, 2 of 2 (100%) patients with TVPC, 6 of 7 (86%) patients of PDC, and one patient with AC. PIK3CA mutations were present in 3 of 30 (delPV104P, A1046T and C420R; 10%) patients with PC and 1 of 7 (H1047R; 14%) patients with PDC. The TP53 mutation was present in 1 of 30 (R306*; 3.3%) patients with PC and 1 of 7 (Q152*; 14%) patients with PDC. The NRAS mutation was present in 1 of 2 (Q61K, 50%) patients with FVPC. Statistical analysis showed that patients without the BRAF V600E mutation had advanced pathologic T and N stages compared with those with the mutation (P=0.047 and P=0.019, respectively). The BRAF V600E mutation was not correlated with overall and disease-free survival in patients with PC. A patient with PC with a mutation in EGFR (K852Q) and the PIK3CA mutation had an aggressive course with multiple bone and lung metastases. Detection of mutations in cancer-associated genes using NGS could enhance the understanding of the clinical behavior of TC.
