Kimura Disease Presenting with Buccal Mass: A Case Report and Literature Review.

A 52-year-old man with a 2-year history of left buccal swelling was admitted to our department. An elastic hard oral mass was palpated under the intact buccal mucosa. A CT scan with enhancement revealed a solid mass measuring 2.0 × 1.5 × 1.3 cm between the left masseter muscle and the maxilla. Laboratory examination showed elevated peripheral blood eosinophil count of 1070/µL (12.3%) and serum immunoglobulin (Ig)E level of 1374 IU/mL. Histologic examination of transorally excised mass revealed lymphoid follicular hyperplasia with reactive germinal centers and eosinophilic infiltration with eosinophilic micro-abscesses in the germinal centers. Abundant IgE deposition in a reticular fashion was observed in the germinal centers and c-kit positive mast cells was observed in the paracortical area in the excised mass. The patient was diagnosed with Kimura disease (KD) and treated with oral prednisolone, tapering from 10 mg/day for approximately 8 months. Eosinophil count and serum IgE level decreased to 435/µL (5%) and 520 IU/dL, respectively. He is free from symptoms at the time of this submission. KD, a rare, benign, and chronic inflammatory disorder, occurs predominantly in young male adults in Asia. Patients with KD who presents with buccal mass are relatively rare. Immunohistologic analyses suggested that an allergic reaction played an important role in the etiology of KD in this case.

Lung Adenocarcinoma with Cheek Dysesthesia as an Initial Symptom: A Case Report and Literature Review.

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.

Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experience.

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.