1.Erratum: Korean Gastric Cancer Association-Led Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ;
Journal of Gastric Cancer 2025;25(2):400-402
2.Korean Gastric Cancer AssociationLed Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ; The Information Committee of the Korean Gastric Cancer Association
Journal of Gastric Cancer 2025;25(1):115-132
Purpose:
Since 1995, the Korean Gastric Cancer Association (KGCA) has been periodically conducting nationwide surveys on patients with surgically treated gastric cancer. This study details the results of the survey conducted in 2023.
Materials and Methods:
The survey was conducted from March to December 2024 using a standardized case report form. Data were collected on 86 items, including patient demographics, tumor characteristics, surgical procedures, and surgical outcomes. The results of the 2023 survey were compared with those of previous surveys.
Results:
Data from 12,751 cases were collected from 66 institutions. The mean patient age was 64.6 years, and the proportion of patients aged ≥71 years increased from 9.1% in 1995 to 31.7% in 2023. The proportion of upper-third tumors slightly decreased to 16.8% compared to 20.9% in 2019. Early gastric cancer accounted for 63.1% of cases in 2023.Regarding operative procedures, a totally laparoscopic approach was most frequently applied (63.2%) in 2023, while robotic gastrectomy steadily increased to 9.5% from 2.1% in 2014.The most common anastomotic method was the Billroth II procedure (48.8%) after distal gastrectomy and double-tract reconstruction (51.9%) after proximal gastrectomy in 2023.However, the proportion of esophago-gastrostomy with anti-reflux procedures increased to 30.9%. The rates of post-operative mortality and overall complications were 1.0% and 15.3%, respectively.
Conclusions
The results of the 2023 nationwide survey demonstrate the current status of gastric cancer treatment in Korea. This information will provide a basis for future gastric cancer research.
3.Erratum: Korean Gastric Cancer Association-Led Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ;
Journal of Gastric Cancer 2025;25(2):400-402
4.Korean Gastric Cancer AssociationLed Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ; The Information Committee of the Korean Gastric Cancer Association
Journal of Gastric Cancer 2025;25(1):115-132
Purpose:
Since 1995, the Korean Gastric Cancer Association (KGCA) has been periodically conducting nationwide surveys on patients with surgically treated gastric cancer. This study details the results of the survey conducted in 2023.
Materials and Methods:
The survey was conducted from March to December 2024 using a standardized case report form. Data were collected on 86 items, including patient demographics, tumor characteristics, surgical procedures, and surgical outcomes. The results of the 2023 survey were compared with those of previous surveys.
Results:
Data from 12,751 cases were collected from 66 institutions. The mean patient age was 64.6 years, and the proportion of patients aged ≥71 years increased from 9.1% in 1995 to 31.7% in 2023. The proportion of upper-third tumors slightly decreased to 16.8% compared to 20.9% in 2019. Early gastric cancer accounted for 63.1% of cases in 2023.Regarding operative procedures, a totally laparoscopic approach was most frequently applied (63.2%) in 2023, while robotic gastrectomy steadily increased to 9.5% from 2.1% in 2014.The most common anastomotic method was the Billroth II procedure (48.8%) after distal gastrectomy and double-tract reconstruction (51.9%) after proximal gastrectomy in 2023.However, the proportion of esophago-gastrostomy with anti-reflux procedures increased to 30.9%. The rates of post-operative mortality and overall complications were 1.0% and 15.3%, respectively.
Conclusions
The results of the 2023 nationwide survey demonstrate the current status of gastric cancer treatment in Korea. This information will provide a basis for future gastric cancer research.
5.Erratum: Korean Gastric Cancer Association-Led Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ;
Journal of Gastric Cancer 2025;25(2):400-402
6.Korean Gastric Cancer AssociationLed Nationwide Survey on Surgically Treated Gastric Cancers in 2023
Dong Jin KIM ; Jeong Ho SONG ; Ji-Hyeon PARK ; Sojung KIM ; Sin Hye PARK ; Cheol Min SHIN ; Yoonjin KWAK ; Kyunghye BANG ; Chung-sik GONG ; Sung Eun OH ; Yoo Min KIM ; Young Suk PARK ; Jeesun KIM ; Ji Eun JUNG ; Mi Ran JUNG ; Bang Wool EOM ; Ki Bum PARK ; Jae Hun CHUNG ; Sang-Il LEE ; Young-Gil SON ; Dae Hoon KIM ; Sang Hyuk SEO ; Sejin LEE ; Won Jun SEO ; Dong Jin PARK ; Yoonhong KIM ; Jin-Jo KIM ; Ki Bum PARK ; In CHO ; Hye Seong AHN ; Sung Jin OH ; Ju-Hee LEE ; Hayemin LEE ; Seong Chan GONG ; Changin CHOI ; Ji-Ho PARK ; Eun Young KIM ; Chang Min LEE ; Jong Hyuk YUN ; Seung Jong OH ; Eunju LEE ; Seong-A JEONG ; Jung-Min BAE ; Jae-Seok MIN ; Hyun-dong CHAE ; Sung Gon KIM ; Daegeun PARK ; Dong Baek KANG ; Hogoon KIM ; Seung Soo LEE ; Sung Il CHOI ; Seong Ho HWANG ; Su-Mi KIM ; Moon Soo LEE ; Sang Hyun KIM ; Sang-Ho JEONG ; Yusung YANG ; Yonghae BAIK ; Sang Soo EOM ; Inho JEONG ; Yoon Ju JUNG ; Jong-Min PARK ; Jin Won LEE ; Jungjai PARK ; Ki Han KIM ; Kyung-Goo LEE ; Jeongyeon LEE ; Seongil OH ; Ji Hun PARK ; Jong Won KIM ; The Information Committee of the Korean Gastric Cancer Association
Journal of Gastric Cancer 2025;25(1):115-132
Purpose:
Since 1995, the Korean Gastric Cancer Association (KGCA) has been periodically conducting nationwide surveys on patients with surgically treated gastric cancer. This study details the results of the survey conducted in 2023.
Materials and Methods:
The survey was conducted from March to December 2024 using a standardized case report form. Data were collected on 86 items, including patient demographics, tumor characteristics, surgical procedures, and surgical outcomes. The results of the 2023 survey were compared with those of previous surveys.
Results:
Data from 12,751 cases were collected from 66 institutions. The mean patient age was 64.6 years, and the proportion of patients aged ≥71 years increased from 9.1% in 1995 to 31.7% in 2023. The proportion of upper-third tumors slightly decreased to 16.8% compared to 20.9% in 2019. Early gastric cancer accounted for 63.1% of cases in 2023.Regarding operative procedures, a totally laparoscopic approach was most frequently applied (63.2%) in 2023, while robotic gastrectomy steadily increased to 9.5% from 2.1% in 2014.The most common anastomotic method was the Billroth II procedure (48.8%) after distal gastrectomy and double-tract reconstruction (51.9%) after proximal gastrectomy in 2023.However, the proportion of esophago-gastrostomy with anti-reflux procedures increased to 30.9%. The rates of post-operative mortality and overall complications were 1.0% and 15.3%, respectively.
Conclusions
The results of the 2023 nationwide survey demonstrate the current status of gastric cancer treatment in Korea. This information will provide a basis for future gastric cancer research.
7.Clinical Features and Long-term Prognosis of Crohn’s Disease in Korea: Results from the Prospective CONNECT Study
Seung Wook HONG ; Byong Duk YE ; Jae Hee CHEON ; Ji Hyun LEE ; Ja Seol KOO ; Byung Ik JANG ; Kang-Moon LEE ; You Sun KIM ; Tae Oh KIM ; Jong Pil IM ; Geun Am SONG ; Sung-Ae JUNG ; Hyun Soo KIM ; Dong Il PARK ; Hyun-Soo KIM ; Kyu Chan HUH ; Young-Ho KIM ; Jae Myung CHA ; Geom Seog SEO ; Chang Hwan CHOI ; Hyun Joo SONG ; Gwang Ho BAIK ; Ji Won KIM ; Sung Jae SHIN ; Young Sook PARK ; Chang Kyun LEE ; Jun LEE ; Sung Hee JUNG ; Yunho JUNG ; Sung Chul PARK ; Young-Eun JOO ; Yoon Tae JEEN ; Dong Soo HAN ; Suk-Kyun YANG ; Hyo Jong KIM ; Won Ho KIM ; Joo Sung KIM
Gut and Liver 2022;16(6):907-920
Background/Aims:
The prospective Crohn’s Disease Clinical Network and Cohort Study is a nationwide multicenter cohort study of patients with Crohn’s disease (CD) in Korea, aiming to prospectively investigate the clinical features and long-term prognosis associated with CD.
Methods:
Patients diagnosed with CD between January 2009 and September 2019 were prospectively enrolled. They were divided into two cohorts according to the year of diagnosis: cohort 1 (diagnosed between 2009 and 2011) versus cohort 2 (between 2012 and 2019).
Results:
A total of 1,175 patients were included, and the median follow-up duration was 68 months (interquartile range, 39.0 to 91.0 months). The treatment-free durations for thiopurines (p<0.001) and anti-tumor necrosis factor agents (p=0.018) of cohort 2 were shorter than those of cohort 1. Among 887 patients with B1 behavior at diagnosis, 149 patients (16.8%) progressed to either B2 or B3 behavior during follow-up. Early use of thiopurine was associated with a reduced risk of behavioral progression (adjusted hazard ratio [aHR], 0.69; 95% confidence interval [CI], 0.50 to 0.90), and family history of inflammatory bowel disease was associated with an increased risk of behavioral progression (aHR, 2.29; 95% CI, 1.16 to 4.50). One hundred forty-one patients (12.0%) underwent intestinal resection, and the intestinal resection-free survival time was significantly longer in cohort 2 than in cohort 1 (p=0.003). The early use of thiopurines (aHR, 0.35;95% CI, 0.23 to 0.51) was independently associated with a reduced risk of intestinal resection.
Conclusions
The prognosis of CD in Korea appears to have improved over time, as evidenced by the decreasing intestinal resection rate. Early use of thiopurines was associated with an improved prognosis represented by a reduced risk of intestinal resection.
8.LASSO-Based Machine Learning Algorithm for Prediction of Lymph Node Metastasis in T1 Colorectal Cancer
Jeonghyun KANG ; Yoon Jung CHOI ; Im-kyung KIM ; Hye Sun LEE ; Hogeun KIM ; Seung Hyuk BAIK ; Nam Kyu KIM ; Kang Young LEE
Cancer Research and Treatment 2021;53(3):773-783
Purpose:
The role of tumor-infiltrating lymphocytes (TILs) in predicting lymph node metastasis (LNM) in patients with T1 colorectal cancer (CRC) remains unclear. Furthermore, clinical utility of a machine learning–based approach has not been widely studied.
Materials and Methods:
Immunohistochemistry for TILs against CD3, CD8, and forkhead box P3 in both center and invasive margin of the tumor were performed using surgically resected T1 CRC slides. Three hundred and sixteen patients were enrolled and categorized into training (n=221) and validation (n=95) sets via random sampling. Using clinicopathologic variables including TILs, the least absolute shrinkage and selection operator (LASSO) regression model was applied for variable selection and predictive signature building in the training set. The predictive accuracy of our model and the Japanese criteria were compared using area under the receiver operating characteristic (AUROC), net reclassification improvement (NRI)/integrated discrimination improvement (IDI), and decision curve analysis (DCA) in the validation set.
Results:
LNM was detected in 29 (13.1%) and 12 (12.6%) patients in training and validation sets, respectively. Nine variables were selected and used to generate the LASSO model. Its performance was similar in training and validation sets (AUROC, 0.795 vs. 0.765; p=0.747). In the validation set, the LASSO model showed better outcomes in predicting LNM than Japanese criteria, as measured by AUROC (0.765 vs. 0.518, p=0.003) and NRI (0.447, p=0.039)/IDI (0.121, p=0.034). DCA showed positive net benefits in using our model.
Conclusion
Our LASSO model incorporating histopathologic parameters and TILs showed superior performance compared to conventional Japanese criteria in predicting LNM in patients with T1 CRC.
9.LASSO-Based Machine Learning Algorithm for Prediction of Lymph Node Metastasis in T1 Colorectal Cancer
Jeonghyun KANG ; Yoon Jung CHOI ; Im-kyung KIM ; Hye Sun LEE ; Hogeun KIM ; Seung Hyuk BAIK ; Nam Kyu KIM ; Kang Young LEE
Cancer Research and Treatment 2021;53(3):773-783
Purpose:
The role of tumor-infiltrating lymphocytes (TILs) in predicting lymph node metastasis (LNM) in patients with T1 colorectal cancer (CRC) remains unclear. Furthermore, clinical utility of a machine learning–based approach has not been widely studied.
Materials and Methods:
Immunohistochemistry for TILs against CD3, CD8, and forkhead box P3 in both center and invasive margin of the tumor were performed using surgically resected T1 CRC slides. Three hundred and sixteen patients were enrolled and categorized into training (n=221) and validation (n=95) sets via random sampling. Using clinicopathologic variables including TILs, the least absolute shrinkage and selection operator (LASSO) regression model was applied for variable selection and predictive signature building in the training set. The predictive accuracy of our model and the Japanese criteria were compared using area under the receiver operating characteristic (AUROC), net reclassification improvement (NRI)/integrated discrimination improvement (IDI), and decision curve analysis (DCA) in the validation set.
Results:
LNM was detected in 29 (13.1%) and 12 (12.6%) patients in training and validation sets, respectively. Nine variables were selected and used to generate the LASSO model. Its performance was similar in training and validation sets (AUROC, 0.795 vs. 0.765; p=0.747). In the validation set, the LASSO model showed better outcomes in predicting LNM than Japanese criteria, as measured by AUROC (0.765 vs. 0.518, p=0.003) and NRI (0.447, p=0.039)/IDI (0.121, p=0.034). DCA showed positive net benefits in using our model.
Conclusion
Our LASSO model incorporating histopathologic parameters and TILs showed superior performance compared to conventional Japanese criteria in predicting LNM in patients with T1 CRC.
10.Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
Bo-Gyeong KIM ; Joo-hyun JUNG ; Mi-Jung KIM ; Eun-Hye MOON ; Jae-Hwan OH ; Jung-Woo PARK ; Heung-Eog CHA ; Ju-Hyun KIM ; Yoon-Jae KIM ; Jun-Won CHUNG ; Ki-Baik HAHM ; Hong-Ryul JIN ; Yong-Ju JANG ; Sung Wan KIM ; Seung-Kyu CHUNG ; Dae-Woo KIM ; Young Jae LEE ; Seon-Tae KIM
Clinical and Experimental Otorhinolaryngology 2021;14(4):399-406
Objectives:
. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients.
Methods:
. Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated.
Results:
. In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms.
Conclusion
. Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.

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