In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

PURPOSE: We investigated the clinical characteristics of patients who developed thyroid dysfunction and evaluated the risk factors for hypothyroidism following radiotherapy and chemotherapy in pediatric patients with medulloblastoma or primitive neuroectodermal tumor (PNET). METHODS: The medical records of 66 patients (42 males) treated for medulloblastoma (n=56) or PNET (n=10) in childhood between January 2000 and December 2014 at Seoul National University Children’s Hospital were retrospectively reviewed. A total of 21 patients (18 high-risk medulloblastoma and 3 PNET) underwent high-dose chemotherapy and autologous stem cell rescue (HDCT/ASCR) RESULTS: During the median 7.6 years of follow-up, 49 patients (74%) developed transient (n=12) or permanent (n=37) hypothyroidism at a median 3.8 years of follow-up (2.9–4.6 years). Younger age ( < 5 years) at radiation exposure (P=0.014 vs. ≥9 years) and HDCT (P=0.042) were significantly predictive for hypothyroidism based on log-rank test. However, sex, type of tumor, and dose of craniospinal irradiation (less vs. more than 23.4 Gy) were not significant predictors. Cox proportional hazard model showed that both younger age (< 5 years) at radiation exposure (hazard ratio [HR], 3.1; vs. ≥9 years; P=0.004) and HDCT (HR, 2.4; P=0.010) were significant predictors of hypothyroidism. CONCLUSIONS: Three-quarters of patients with pediatric medulloblastoma or PNET showed thyroid dysfunction, and over half had permanent thyroid dysfunction. Thus, frequent monitoring of thyroid function is mandatory in all patients treated for medulloblastoma or PNET, especially, in very young patients and/or high-risk patients recommended for HDCT/ASCR.
Craniospinal Irradiation ; Drug Therapy ; Follow-Up Studies ; Humans ; Hypothyroidism ; Medical Records ; Medulloblastoma* ; Neuroectodermal Tumors, Primitive* ; Pediatrics ; Proportional Hazards Models ; Radiation Exposure ; Radiotherapy ; Retrospective Studies ; Risk Factors ; Seoul ; Stem Cells ; Thyroid Gland* ; Thyroid Hormones

BACKGROUND: To identify adverse pulmonary health effects due to air pollution derived from a cement plant in Korea. The emphysema prevalence in residents around a cement plant was compared to that in the group who live far away from the plant by chest films (PA and lateral view) and high-resolution computed tomography (HRCT) lung images. METHODS: From June to August in 2013 and from August to November in 2014, chest films and HRCT scan were conducted on residents over the age of 40 who lived around a cement plant. The residents were divided into two groups; a “more exposed group (MEG)” which consisted of 1,046 people who lived within a 1 km radius and a “less exposed group (LEG)” which consisted of 317 people who lived more than 5 km away from the same plant. We compared the emphysema prevalence and estimated the OR of this between the MEG and the LEG by using a chi-square and logistic regression on chest films and HRCT. RESULTS: The emphysema prevalence was 9.1 % in the LEG, 14.3 % in the MEG on chest films and 11.4 %, 17.8 % on the HRCT, respectively. The OR of the emphysema prevalence in MEG was 2.92 (95 % CI 1.77-4.83) on the chest films, 2.56 (95 % CI 1.64–3.99) on the HRCT after sex, age, body mass index (BMI), smoking history, residency period and firewood used history were adjusted. The OR in the less than 29 pack-years smoking history was 1.66 (95 % CI 0.92–3.06) and in the more than 30 pack-years was 3.05 (95 % CI 1.68–5.52) on the chest films, and was 1.68 (95 % CI 0.98–2.90), 2.93 (95 % CI 1.72–4.98) on the HRCT, respectively. CONCLUSION: The emphysema prevalence seems to be affected by the level of exposure to air pollution derived from the cement plant as well as sex, age, BMI, and smoking history in this study. Moreover, the OR of the case of the more exposed to the air pollution was similar to that of the case in smoking.
Air Pollution* ; Body Mass Index ; Emphysema* ; Internship and Residency ; Korea ; Leg ; Logistic Models ; Lung ; Plants* ; Prevalence* ; Radius ; Smoke ; Smoking ; Thorax

A 25-year-old man presented with blurred vision and chronic headache. His brain MRI revealed bilateral frontal pachymeningeal enhancement with leptomeningeal enhancement. The patient had experienced recurrent oral ulcer and had anterior uveitis and papulopustules skin lesion. We diagnosed him with hypertrophic pachymeningitis (HP) associated with neuro-Behcet's disease (NBD). There have been few reports describing HP in patients with NBD. We report a case of NBD presenting as HP.
Adult ; Brain ; Headache Disorders ; Humans ; Magnetic Resonance Imaging ; Meningitis* ; Oral Ulcer ; Skin ; Uveitis, Anterior

OBJECTIVES: To identify adverse health effects due to air pollution derived from a cement plant in Korea. The ventilation impairment in residents around a cement plant was compared to another group through a pulmonary function test (PFT). METHODS: From June to August of 2013, both a pre and post-bronchodilator PFT was conducted on a "more exposed group (MEG)" which consisted of 318 people who lived within a 1 km radius of a cement plant and a "less exposed group (LEG)" which consisted of 129 people who lived more than 5 km away from the same plant. The largest forced expiratory volume in a one second (FEV1) reading and a functional residual capacity (FVC) reading were recorded after examining the data from all of the usable curves that were agreed upon as valid by PFT experts of committee of National Institute of Environmental Research. The global initiative for chronic obstructive lung disease (GOLD) criteria for COPD, defined the FEV1/FVC ratio < 0.7 as the obstructive type, and the FEV1/FVC ratio >== 0.7 and FVC% predicted < 80% were as the restrictive type. The FVC% predicted value was estimated using Korean equation. We compared the proportion of lung function impairments between the MEG and the LEG by using a chi-square, and estimated the OR of obstructive and restrictive ventilation impairments by logistic regression. RESULTS: The obstructive type impairment proportion was 9.7% in the MEG, whereas it was 8.5% in the LEG. The restrictive type was 21.6% in the MEG which was more than the 12.4% of the LEG. The odds ratio (OR) of total ventilation impairment in the MEG was 2.63 (95% CI 1.50 ~ 4.61) compared to the LEG. The OR of obstructive type in the MEG was 1.60 (95% CI 0.70 ~ 3.65), the smoking history was 3.10 (CI 1.10 ~ 8.66) whereas OR of restrictive type in the MEG was 2.55 (95% CI 1.37 ~ 4.76), the smoking history was 0.75 (95% CI 0.35 ~ 1.60) after adjusting for sex and age. Level of exposure to particulate played a role in both types. However, it appeared to be a significant variable in restrictive type, while smoking history was also an important variable in obstructive type. CONCLUSION: Although this study is a limited cross-section study with a small number of subjects, ventilation impairment rate is higher in the MEG. There might be a possibility that it is due to long-term exposure to particulate dust generated by the cement plant.
Air Pollution ; Dust ; Forced Expiratory Volume ; Functional Residual Capacity ; Korea ; Leg ; Logistic Models ; Lung ; Odds Ratio ; Plants* ; Pulmonary Disease, Chronic Obstructive ; Radius ; Respiratory Function Tests ; Smoke ; Smoking ; Ventilation*

BACKGROUND: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms such as cognitive impairment and neuropsychiatric symptoms. The aim of this study was to investigate the spectrum of neuropsychiatric symptoms in PD according to cognitive function. METHODS: One hundred twenty seven patients with PD were consecutively recruited. They had undergone an intensive interview with a neurologist and the Seoul Neuropsychological Screening Battery-dementia version, and were divided into three groups: 27 patients in PD with normal cognition (PDNC), 57 in PD with mild cognitive impairment (PDMCI), and 43 in PD with Dementia (PDD). Forty five healthy controls without memory complaints were also recruited. The caregivers of all participants administered the Caregiver-Administered Neuropsychiatric Inventory (CGA-NPI). RESULTS: There were significant differences in the CGA-NPI score (22.8+/-20.9 vs. 6.4+/-10.1 vs. 1.7+/-3.9 vs. 1.0+/-1.6, p<0.001), and the prevalence of neuropsychiatric symptoms (100% vs. 64.9% vs. 37.0% vs. 44.4%, p<0.001) among PDD, PDMCI, PDNC and control groups. Depression was the most common symptom (43.3%), followed by anxiety (31.5%), apathy (26.8%), and night-time behavior (26.8%) in all PD patients. Delusion, hallucination, and aberrant motor behavior were observed frequently in PDD, but were rare in PDMCI. CONCLUSIONS: Depression was the most common neuropsychiatric symptom in PD. The presence of delusion, hallucination, or aberrant motor behavior may suggest PDD. The neuropsychiatric symptoms were not prevalent in PD with normal cognition.
Anxiety ; Apathy ; Caregivers ; Cognition ; Delusions ; Dementia ; Depression ; Hallucinations ; Humans ; Mass Screening ; Memory ; Mild Cognitive Impairment ; Neurodegenerative Diseases ; Parkinson Disease ; Prevalence

PURPOSE: Diabetes mellitus is a chronic disorder and strict glycemic control, which cannot be successfully obtained without behavior modification, is the most important factor in prevention and management of complications. The purpose of this study was to investigate the short-term effects and associated factors of the diabetes education program and to assess the necessity of regular and structured education and support in diabetic children and adolescents. METHODS: Thirty patients (10.0-18.9 years) with type 1 diabetes mellitus (T1DM), attending the diabetes clinic in Seoul National University Children's Hospital, were included in the diabetes education program with intensified treatment. A six-day-course program was provided by a diabetes care team with doctors, a specialist diabetes nurse, a clinical dietitian, and a social worker. Patient data of disease duration and complication studies at the time of enrollment were reviewed and changes in HbA1c levels before and after the education program were analyzed. RESULTS: In 28 of 30 patients, significant decrease of average HbA1c levels (average 0.9%, median 0.8%, P < 0.001) was observed after education. The changes in average HbA1c levels were prominent in patients who were educated for the first time. On follow-up, HbA1c level at 3 months was significantly decreased (P = 0.009) but after 9 months, it tended to increase again. The decrease of average HbA1c levels after education was negatively correlated with disease duration (r = -0.60, P = 0.001). CONCLUSION: The short-term effect of the diabetes education program with intensified treatment in diabetic children and adolescents was optimistic but regular education and support in these patients should be sustained.
Adolescent ; Behavior Therapy ; Child ; Diabetes Mellitus ; Diabetes Mellitus, Type 1 ; Follow-Up Studies ; Humans ; Social Workers ; Specialization

PURPOSE: Invasion of the recurrent laryngeal nerve (RLN) by papillary carcinoma of the thyroid gland is rather infrequent. Tumor excision for this patients with invasion of the RLN has been categorized into two groups on the basis of completeness: (1) Resection of the RLN was required for complete excision, and (2) isolation of the RLN from thyroid cancer was mainly performed by sharp dissection to leave as little tumor as possible. Reconstruction of the nerve after complete tumor resection can be added as a supplementary procedure. This study was designed to analyze the clinical characteristics and surgical treatment of thyroid cancer invading the RLN. METHODS: At the Department of Endocrine Surgery of our hospital, 1,426 patients were diagnosed and operated on for papillary thyroid cancer during 36 months, from December 2004 to December 2006. Among them, 49 patients who revealed invasion of the recurrent laryngeal nerve were retrospectively evaluated for their age, gender, preoperative hoarseness and the operative method, change of their postoperative symptoms, radioiodine ablation, the laryngoscopic findings, recurrence and the prognosis. RESULTS: Of the 49 patients, 10 patients had preoperative hoarseness and 13 patients were treated by complete resection. We tried reconstruction of the recurrent laryngeal nerve with using the hypoglossi-recurrent nerve in one case, and with direct end-to-end anastomosis in two cases. The rest of the 36 patients were treated by shaving resection of thyroid and leaving the RLN intact. CONCLUSION: When a surgeon finds papillary carcinoma infiltrating a recurrent laryngeal nerve, regardless of the preoperative symptoms, preservation of the RLN and removal of as much tumor as possible will offer a good result.
Carcinoma, Papillary* ; Hoarseness ; Humans ; Methods ; Prognosis ; Recurrence ; Recurrent Laryngeal Nerve* ; Retrospective Studies ; Thyroid Gland* ; Thyroid Neoplasms

OBJECTIVE: To evaluate the effectiveness of Novalis shaped beam radiation treatment as an adjuvant treatment in patients with craniopharyngiomas. METHODS: We reviewed 8 patients with craniopharyngiomas who had recurring tumors during follow-up or had residual lesions after primary surgery. Three of 8 patients were found to have recurrence after gross total excision of the tumor and 5 patents had residual lesions after subtotal resection. All patients were treated with fractionated stereotactic radiation treatment(FSRT) using Novalis system. The mean age of patients was 28 years (range 16~52). The median irradiation dose per fraction was 1.7Gy (range 1.7~2.0). The median fraction number was 23 (range 15~25), and the median total dose was 39.1Gy (range 25.5~42.5). Follow-up included MR imaging, and ophthalmologic and endocrine examinations. RESULTS: The median follow-up period was 23 months (range 12~43). The local tumor control rate was 87.5%. One patient had a recurring tumor, in which cystic change developed 2 months after FSRT. Four patients showed a decrease in size of their tumor, while 3 patients remained stable. Seven out of 8 patients had hormonal dysfunction that remained unchanged after initial surgery. No further progression of visual impairment was observed. CONCLUSION: FSRT using Novais system is effective and safe for the treatment of recurring or residual craniopharyngiomas without toxicity like optic neuropathy.
Craniopharyngioma* ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Optic Nerve Diseases ; Recurrence ; Vision Disorders