Purpose: To report a nationwide survey on neuroblastoma conducted by the Korean Association of Pediatric Surgeons (KAPS) in 2020. Methods: The clinical data of pediatric patients diagnosed with and treated for neuroblastoma from 2005 to 2019 in 19 hospitals of KAPS members were collected. Survival and prognostic factor analyses were performed using the log rank test and Cox proportional hazard analysis. A p-value <0.05 was considered significant. Results: A total of 669 patients with neuroblastoma were registered for the study. The results were presented and discussed at the 36th annual meeting of the KAPS, which was held in Seoul on August 21, 2020. Conclusion This study provides information on patient demographics, prognostic outcomes, and comprehensive treatment outcomes for neuroblastoma. The study is expected to be an important reference for improving pediatric surgeons’ understanding and treatment of neuroblastoma.

Purpose: Biliary atresia (BA) is a rare but progressive cholangiopathy and the leading cause of pediatric liver transplantation worldwide. The Korean Association of Pediatric Surgeons (KAPS) has conducted three national surveys (2001, 2011, and 2023) to assess long-term trends in the diagnosis, treatment, and outcomes of BA. This study provides a comparative analysis of the 2nd and 3rd national surveys, with reference to selected findings from the 1st survey. Methods: This study included 453 patients from the 3rd national survey (2011–2021) and 435 patients from the 2nd survey (2001–2010), all of whom underwent Kasai portoenterostomy. Data were collected via electronic case report forms from pediatric surgical centers nationwide. Comparisons were made regarding demographics, clinical features, diagnostic patterns, operative details, follow-up outcomes, and survival. Kaplan–Meier analysis was used to evaluate long-term survival. Results: The mean number of BA patients per year remained stable between surveys (43.5 in the 2nd, 41.18 in the 3rd), though centralization of care increased, with 61.5% of cases managed by two major institutions in the 3rd survey. The median age at surgery decreased, and the use of preoperative imaging (especially magnetic resonance cholangiopancreatography) increased. The 10-year native liver survival rate declined from 59.8% to 53.7%, while overall 10-year survival improved slightly (92.9% to 93.2%). Postoperative complications, such as cholangitis and liver failure, persisted but were better categorized. The 3rd survey also reported improved mortality (4.9%) and reduced follow-up loss (11.5%) compared to the 2nd survey. Conclusion While overall survival after Kasai operation has remained high and even improved, native liver survival has slightly declined. The findings reflect earlier diagnosis, more consistent diagnostic imaging, and increasing centralization of care. These trends underscore the importance of long-term nationwide data collection in guiding future strategies for BA management in Korea.

Purpose: This study provides insights into the prevalence at birth, clinical characteristics, and outcomes of gastroschisis and omphalocele in Korea over the past decade, addressing the lack of localized data despite advanced healthcare capabilities. Methods: The study retrospectively analyzed data from 20 pediatric surgical centers in Korea from January 2012 to December 2021, including 269 patients diagnosed with gastroschisis or omphalocele. Data variables included gender, gestational age, birth weight, associated anomalies, type of defect, surgical interventions, and outcomes. Results: The study covered 269 patients, with 80 gastroschisis and 189 omphalocele cases. Gastroschisis prevalence at birth remained stable at 2.15 per 100,000 live births, while omphalocele increased to 5.08 per 100,000. Both conditions had similar gender ratios (0.95). Gastroschisis patients had lower birth weights (2,463.90±505.50 g) and smaller head circumferences (31.97±1.86 cm) compared to omphalocele patients (2,757.65±761.24 g, 32.78±2.64 cm). Omphalocele cases had more associated anomalies, especially cardiovascular issues. Prenatal diagnosis rates were high: 93.7% for gastroschisis and 86.4% for omphalocele. About 96.3% of gastroschisis and 84.1% of omphalocele patients were born in their treatment hospitals. Gastroschisis patients underwent surgery sooner (average 3.5 days) and started feeding later (16.5 days) than omphalocele patients (average 56.5 days to surgery, 6.6 days to start feeding). Hospital stays and follow-up durations were similar, averaging around 782.6 days for gastroschisis and 800.3 days for omphalocele patients. Survival rates were 89.7% for gastroschisis and 87.1% for omphalocele. Conclusion The study highlights the need for early diagnosis, centralized care, and specialized surgical approaches to optimize outcomes for gastroschisis and omphalocele patients in Korea. Enhanced prenatal screening and surgical protocols are recommended to improve these patients' prognosis.

PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors. In this study, a targeted next-generation sequencing (NGS) assay with an Oncomine Focus Assay (OFA) panel was used for the genetic characterization of molecular targets in 30 Korean patients with GIST. MATERIALS AND METHODS: Using the OFA that enables rapid and simultaneous detection of hotspots, single nucleotide variants (SNVs), insertion and deletions (Indels), copy number variants (CNVs), and gene fusions across 52 genes relevant to solid tumors, targeted NGS was performed using genomic DNA extracted from formalin-fixed and paraffin-embedded samples of 30 GISTs. RESULTS: Forty-three hotspot/other likely pathogenic variants (33 SNVs, 8 Indels, and 2 amplifications) in 16 genes were identified in 26 of the 30 GISTs. KIT variants were most frequent (44%, 19/43), followed by 6 variants in PIK3CA, 3 in PDGFRA, 2 each in JAK1 and EGFR, and 1 each in AKT1, ALK, CCND1, CTNNB1, FGFR3, FGFR4, GNA11, GNAQ, JAK3, MET, and SMO. Based on the mutation types, majority of the variants carried missense mutations (60%, 26/43), followed by 8 frameshifts, 6 nonsense, 1 stop-loss, and 2 amplifications. CONCLUSIONS Our study confirmed the advantage of using targeted NGS with a cancer gene panel to efficiently identify mutations associated with GISTs. These findings may provide a molecular genetic basis for developing new drugs targeting these gene mutations for GIST therapy.

BACKGROUND: While qualitative analysis of methylation has been reviewed, the quantitative analysis of methylation has rarely been studied. We evaluated the methylation status of CDKN2A, RARbeta, and RASSF1A promoter regions in non-small cell lung carcinomas (NSCLCs) by using pyrosequencing. Then, we evaluated the association between methylation at the promoter regions of these tumor suppressor genes and the clinicopathological parameters of the NSCLCs. METHODS: We collected tumor tissues from a total of 53 patients with NSCLCs and analyzed the methylation level of the CDKN2A, RARbeta, and RASSF1A promoter regions by using pyrosequencing. In addition, we investigated the correlation between the hypermethylation of CDKN2A and the loss of p16INK4A immunoexpression. RESULTS: Hypermethylation of CDKN2A, RARbeta, and RASSF1A promoter regions were 16 (30.2%), 22 (41.5%), and 21 tumors (39.6%), respectively. The incidence of hypermethylation at the CDKN2A promoter in the tumors was higher in undifferentiated large cell carcinomas than in other subtypes (p=0.002). Hyperrmethylation of CDKN2A was significantly associated with p16INK4A immunoexpression loss (p=0.045). With regard to the clinicopathological characteristics of NSCLC, certain histopathological subtypes were found to be strongly associated with the loss of p16INK4A immunoexpression (p=0.016). Squamous cell carcinoma and undifferentiated large cell carcinoma showed p16INK4A immunoexpression loss more frequently. The Kaplan-Meier survival curves analysis showed that methylation level and patient survival were barely related to one another. CONCLUSION: We quantitatively analyzed the promoter methylation status by using pyrosequencing. We showed a significant correlation between CDKN2A hypermethylation and p16INK4A immunoexpression loss.
Carcinoma, Large Cell ; Carcinoma, Non-Small-Cell Lung ; Carcinoma, Squamous Cell ; DNA Methylation ; Evaluation Studies as Topic ; Genes, p16 ; Genes, Tumor Suppressor ; Humans ; Incidence ; Kaplan-Meier Estimate ; Lung ; Methylation ; Promoter Regions, Genetic ; Receptors, Retinoic Acid ; Sequence Analysis, DNA ; Tumor Suppressor Proteins

BACKGROUND AND OBJECTIVES: Recent studies have reported that vascular endothelial growth factor (VEGF) and hypoxia-inducible factor (HIF)-1alpha are up-regulated in BRAF(V600E)-positive papillary thyroid carcinoma (PTC). We investigated whether papillary thyroid microcarcinomas (PTMCs) also exhibited increased expression of VEGF and HIF-1alpha. In addition, we analyzed the relationship between BRAF(V600E) mutation and clinicopathological parameters, as well as HIF-1alpha expression in PTMC. MATERIALS AND METHODS: We retrospectively selected 225 patients with PTMC. Immunohistochemical staining for HIF-1alpha and VEGF was performed using paraffinembedded PTMC tissue microarrays. BRAF(V600E) mutation status was analyzed by dideoxy sequencing. RESULTS: PTMCs larger than 0.5 cm tend to be related to aggressive clinicopathological features such as thyroid capsular invasion (p=0.023) and bilaterality (p=0.047). Immunoreactivity to HIF-1alpha (20.7%) and VEGF (30.2%) was more prominent in PTMCs as compared to normal follicular cells. However, HIF-1alpha and VEGF expression was not correlated with clinicopathological features. BRAF(V600E) mutation was found in 70.7% (159/225) of the PTMC cases. PTMCs harboring the BRAF(V600E) mutation exhibited larger tumor sizes as compared to PTMCs without the BRAF(V600E) mutation (p=0.038). However, BRAF(V600E) mutation status did not correlate with the expression of HIF-1alpha (p=0.623) or VEGF (p=0.990). CONCLUSION: HIF-1alpha and VEGF were more frequently detected in PTMCs as compared to normal thyroid tissues. However, BRAF(V600E) mutation status was not correlated with the expression of HIF-1alpha or VEGF in PTMCs.
Carcinoma ; Carcinoma, Papillary ; Humans ; Hypoxia-Inducible Factor 1 ; Proto-Oncogene Proteins B-raf ; Retrospective Studies ; Thyroid Gland ; Thyroid Neoplasms ; Vascular Endothelial Growth Factor A

Here we report a case of Strongyloides stercoralis infection of the gastric and pancolonic mucosa in a 79-year-old female with a monoclonal gammopathy of undetermined significance. Endoscopic biopsies were performed in gastric antrum, cecum, distal ascending colon, and hepatic flexure of the colon. On microscopic examination, there were many adult worms, larvae and eggs in the gastric and colonic mucosa. Worms, larvae, and eggs were located in the crypts and within the lumen of the crypts. The body wall of the adult worm was composed of cuticle and a weak muscle layer. A routine stool examination failed to detect larvae or ova. Based on the histopathologic examination, these parasites were confirmed as S. stercoralis.
Adult ; Aged ; Biopsy ; Cecum ; Colon ; Colon, Ascending ; Eggs ; Female ; Humans ; Larva ; Monoclonal Gammopathy of Undetermined Significance ; Mucous Membrane ; Muscles ; Ovum ; Paraproteinemias ; Parasites ; Pyloric Antrum ; Stomach ; Strongyloides stercoralis ; Strongyloidiasis

Here we report a case of Strongyloides stercoralis infection of the gastric and pancolonic mucosa in a 79-year-old female with a monoclonal gammopathy of undetermined significance. Endoscopic biopsies were performed in gastric antrum, cecum, distal ascending colon, and hepatic flexure of the colon. On microscopic examination, there were many adult worms, larvae and eggs in the gastric and colonic mucosa. Worms, larvae, and eggs were located in the crypts and within the lumen of the crypts. The body wall of the adult worm was composed of cuticle and a weak muscle layer. A routine stool examination failed to detect larvae or ova. Based on the histopathologic examination, these parasites were confirmed as S. stercoralis.
Adult ; Aged ; Biopsy ; Cecum ; Colon ; Colon, Ascending ; Eggs ; Female ; Humans ; Larva ; Monoclonal Gammopathy of Undetermined Significance ; Mucous Membrane ; Muscles ; Ovum ; Paraproteinemias ; Parasites ; Pyloric Antrum ; Stomach ; Strongyloides stercoralis ; Strongyloidiasis

PURPOSE: Phyllodes tumors (PTs) of the breast have been classified as benign, borderline, or malignant based on their histopathologic features. However, predicting clinical behavior based on these features has proven to be difficult given that local recurrence occurs in both benign and malignant PTs. Recurrence has been shown to mirror the histologic pattern of the primary tumor or to show dedifferentiation. The aim of this study was to assess the value of the histopathologic parameters, expression or mutation of c-Kit and platelet derived growth factor receptor alpha (PDGFRA) in predicting tumor recurrence. METHODS: Representative areas from 39 benign, 16 borderline, and 12 malignant PTs were selected for construction of tissue microarrays. Immunohistochemical analyses for p53, Ki-67, c-Kit, and PDGFRA were performed and SSCP-PCR analysis was carried out to identify mutations in exons 9, 11, 13, and 17 of the c-Kit gene and exons 12 and 18 of the PDGFRA gene. Clinicopathologic features, including tumor recurrence and margin status, were also evaluated. RESULTS: Of the 67 PTs, 11 cases (16.4%) recurred from 3 to 92 months following initial diagnosis (4 benign, 2 borderline, and 5 malignant). One benign PT case recurred as a borderline tumor and two borderline PT cases recurred as malignancies. Three patients died of malignant PT. No mutations of the c-Kit or PDGFRA genes were found and there was no statistically significant association of either p53 or p16 immunostaining with recurrent disease (p>0.05). However, histologic grade (p=0.033), margin status (p<0.001), Ki-67 (p=0.012), c-Kit (p=0.002), and PDGFRA (p=0.007) stromal immunopositivity were significantly correlated with recurrence. CONCLUSION: Even though positive or close margins were significantly associated with tumor recurrence, stromal c-Kit, PDGFRA positivity, and the Ki-67 index were useful for predicting recurrent PTs. Despite this, no c-Kit or PDGFRA mutations were found.
Breast ; Exons ; Humans ; Phyllodes Tumor ; Proto-Oncogene Proteins c-kit ; Receptors, Platelet-Derived Growth Factor ; Recurrence

BACKGROUND AND OBJECTIVES: The postoperative cheek cyst with orbital involvement is a rare condition and the treatment of eroded orbital floor is controversial. This study evaluated the efficacy of endoscopic marsupialization for treating postoperative cheek cyst with orbital floor defect and assessed the requirements of a direct orbital approach for orbital reconstruction. MATERIALS AND METHODS: The study involved a retrospective review of twelve patients with postoperative cheek cyst and orbital floor defect. Medical records were reviewed for details of previous surgery, presenting symptoms, surgical approach and the results of the operation. The maximum diameter of the involved orbital floor was calculated using the coronal imaging of paranasal sinus computed tomography (PNS CT). RESULTS: All patients had previously undergone Caldwell-Luc procedures. The most common symptom was pressure on the cheek. According to PNS CT, the maximum diameter of the involved orbital floor ranged from 0.7 to 3.1 cm (mean 1.46 cm) and the involved orbital area ranged from 0.35 to 4.23 cm2 (mean 1.87 cm2). All patients underwent only endoscopic marsupialization without orbital reconstruction. Postoperatively, all patients showed no recurrence of symptoms or required revision surgery. CONCLUSION: Endoscopic marsupialization without reconstruction of the orbital floor could be considered as a first treatment option for postoperative cheek cyst combined with orbital floor defect.
Cheek ; Cytochrome P-450 CYP1A1 ; Endoscopy ; Floors and Floorcoverings ; Humans ; Maxillary Sinus ; Medical Records ; Mucocele ; Orbit ; Recurrence ; Retrospective Studies