Comprehensive Genome profile testing in head and neck cancer.

OBJECTIVE: Head and neck cancer (HNC) is a tumor occurring in various primary sites with limited chemotherapy options for its treatment. Recently, comprehensive genomic profiling (CGP) testing has become clinically widespread. In this study, we examined the utility of CGP in diagnosing and treating HNC. METHODS: This study included 29 patients with HNC who underwent CGP testing at the Gifu University Hospital between December 2019 and April 2022. We analyzed the types of gene mutations and tumor mutational burden (TMB) based on the CGP results. Squamous cell carcinoma accounted for 55.2%, and other cancers accounted for 44.8%. And we investigated the correlation of prognosis with gene mutations and TMB. RESULTS: Gene mutations were detected in TP53(48.3%), CDKN2A (27.6%), CDKN2B (17.2%), NOTCH1 (17.2%), PIK3CA (17.2%), ARID1A (13.8%), and NF1 (13.8%). TP53, CDKN2A and CDKN2B mutations significantly decreased survival rate in HNC. Five cases (17.2%) were TMB-high and 82.8% were TMB-low. In SCC cases treated with immune checkpoint inhibitors, TMB-high had better Overall survival than TMB-low. And all patients with TMB-high were oropharyngeal cancer. CONCLUSION: Although there were no cases in which effective treatment was actually performed based on the results of CGP, many gene mutations have been detected and several gene mutations correlated with prognosis. Furthermore, TMB can be used as a biomarker to predict the therapeutic effects of immune checkpoint inhibitors in cases of SCC.

Usefulness of intraoperative monitoring for mesenteric lymph node metastasis in transplanted free jejunum.

We herein report a rare case of a patient with hypopharyngeal squamous cell carcinoma (SCC) who presented with recurrent metastasis in the mesenteric lymph node of a transplanted jejunum. Removal of the metastatic lymph node required resection of the nutrient vessels which risked the current state of the transplanted jejunum. Importantly, although the nutrient vessels were resected, the jejunum did not become necrotic. This case and another similar case indicate that it may be possible to predict the viability of a transplanted jejunum where jejunal nutrient vessels must subsequently be resected. Key indicators for jejunal survival include determining jejunal blood flow by intraoperative indocyanine green fluorescence imaging, confirming good jejunal color and observation of peristaltic movement by intraoperative blood flow blockage of nutrient vessels. In conclusion, if intraoperative indocyanine green fluorescence imaging in the entire jejunum can be confirmed, there is a high possibility that the jejunum can be well preserved. The clinical presentation and clinical course are described with a proposed new schema of the resectable site of the transplanted jejunal mesentery.

Two cases of flow void sign of temporal bone metastasis from follicular thyroid carcinoma.

This report describes CT and MRI findings of temporal bone metastasis from follicular thyroid carcinoma in two cases. Both of these had large, osteolytic, hypervascular masses of the temporal bone, accompanied by internal scattered bone fragments and extraosseous mass formation on unenhanced and contrast-enhanced CT images. In the first case, several dilated and tortuous vessels within the markedly hypervascular mass were observed on the arterial phase of dynamic contrast-enhanced CT images. Compared with the signal intensity of the cerebellum, temporal bone masses showed slightly hypo- to slightly hyperintense on T1-weighted images and slightly hypo- to moderately hyperintense on T2-weighted images. Both cases had flow voids in abnormally dilated vessels within the mass on T1- and T2-weighted images. Thyroid follicular carcinoma rarely metastasizes the temporal bone and presents with an osteolytic hypervascular mass with flow void sign.

A Case of Thyroid Carcinoma Showing Thymus-Like Differentiation With Breast Cancer Susceptibility Gene 2 Mutation: A Case Report and Literature Review.

Carcinoma showing thymus-like differentiation (CASTLE) is a rare malignant tumor that originates from ectopic thymic or residual embryonic tissues. CASTLE is specified as a synonym for intrathyroidal thymic carcinoma. The patient is a 66-year-old male. Surgery was performed on the thyroid tumor with tracheal infiltration, and pathological examination revealed CASTLE. Multidisciplinary treatment, including chemoradiotherapy, was performed for recurrent tumors, and he has been alive for 90 months since the initial treatment. The cancer genome panel identified mutations in AT-rich interaction domain 1A(ARID1A)and breast cancer susceptibility gene 2 (BRCA2), but there were no available clinical trials or recommended drugs. BRCA2 may be involved in CASTLE. Herein, we review the literature and report the treatment method and gene mutation for recurrent metastatic cases of CASTLE, for which standard treatment has not been established.

Increased Monocyte Chemotactic Protein-1 Accompanying Pro-Inflammatory Processes are Associated with Progressive Hearing Impairment and Bilateral Disability of Meniere's Disease.

BACKGROUND: The progression of hearing impairment and the bilateral involvement of Meniere's disease (MD) may depend on the disease duration and aging. Recent studies reported that MD might involve dysfunction of the microvascular circulation damaged due to inflammatory changes. OBJECTIVES: The aim of this study was to determine that the progress of the MD's hearing impairment and bilateral disability may be associated with the pathogenesis of several pro-inflammatory processes. PATIENTS AND METHODS: We recruited 30 unilateral MD patients (56.8 ± 14.7 years old), 7 bilateral MD patients (65.3 ± 13.9 years old), and 17 age-matched control subjects (53.5 ± 14.4 years old, p > 0.05). We measured the plasma vascular endothelial growth factor (VEGF), plasma interleukin-6 (IL-6), plasma tumor-necrosis factor α (TNFα), and plasma monocyte chemotactic protein-1 (MCP-1). RESULTS: The bilateral MD group and the unilateral MD group had higher plasma MCP-1 (204.7 ± 41.0 pg/mL and 169.5 ± 32.0 pg/mL) than the control group (149.2 ± 30.7 pg/mL) (p < 0.05). There was no significant difference in plasma TNFα, IL-6, and VEGF among 3 groups (p > 0.05). There was a strong correlation between the plasma MCP-1 and age in MD patients (r = 0.58, p < 0.01); however, no significant correlation between the plasma MCP-1 and age was found in control subjects (p > 0.05). The plasma MCP-1 significantly correlated with the average hearing level of 500, 1,000, 2,000, and 4,000 Hz, and the maximum slow phase eye velocity in caloric test in the better side (p < 0.05). Also, the plasma MCP-1 showed significant positive correlations with the plasma IL-6 (r = 0.49, p < 0.01) and plasma TNFα (r = 0.32, p < 0.05) in MD group. CONCLUSIONS: Our results suggest that the increased plasma MCP-1 accompanying pro-inflammatory processes are associated with the progression of the hearing impairment and the bilateral disability of MD.