Purpose: We investigated the clinical efficacy of immune checkpoint blocker (ICB) therapy for metastatic or advanced melanoma in Korean patients. As well, we assessed whether the effects of ICBs can be enhanced by combination therapy with palliative radiotherapy (RT). Materials and Methods: We retrospectively reviewed the records of 127 patients with metastatic melanoma who received ICB with or without palliative RT between 2014 and 2018. The melanoma subtypes were classified as follows: chronic sun-damaged (CSD), acral, mucosal, and uveal. The primary endpoint was the objective response rate (ORR). Results: The overall ORR was 15%, with 11 complete and eight partial responses. ORRs for CSD, acral/mucosal, and uveal melanomas were 50%, 16.5%, and 0%, respectively (p=0.009). In addition to the subtype, stage at treatment, total tumor burden at treatment, and ICB type were significantly associated with ORR (all p < 0.05). Palliative RT was administered in 44% of patients during the treatment, and it did not affect ORR. Clinical responders to ICB therapy exhibited significantly higher 1-year progression-free and overall survival rates than nonresponders. Conclusion ORR for ICB monotherapy in Korean patients with melanoma is relatively modest compared with that in Western patients because the non-CSD subtypes are predominant in the Korean population. Our findings regarding combination therapy with ICB provided a rationale for the initiation of our phase II study (NCT04017897).

BACKGROUND/AIMS: Although the association between intrapulmonary shunt (IPS) and liver cirrhosis is clear, data of repeated contrast echocardiography (CE) before and after liver transplantation (LT) to evaluate factors associated with IPS are limited. METHODS: Hand-agitated saline was used for CE and, by assessing left-chamber opacification, IPS was classified as grade 0 to 4. Grade 3/4 constituted significant IPS and hepatopulmonary syndrome (HPS) was defined as significant IPS with the arterial partial pressure of oxygen < 70 mmHg. RESULTS: Before LT, 253 patients underwent CE and the frequency of significant IPS and HPS were 44% (n = 112) and 7% (n = 17), respectively. Child-Pugh score (odds ratio [OR], 1.345; 95% confidence interval [CI], 1.090 to 1.660; p = 0.006) and arterial oxygen content (OR, 0.838; 95% CI, 0.708 to 0.991; p = 0.039) were independent determinants of significant IPS, whereas direct bilirubin (OR, 1.076; 95% CI, 1.012 to 1.144; p = 0.019) was the only variable associated with HPS. Among 153 patients who underwent successful LT, repeated CE was performed in 97 (63%), which showed significant reductions in IPS grade (from 2.6 ± 1.0 to 1.2 ± 1.3, p < 0.001) and the prevalence of significant IPS (from 56% to 20%, p = 0.038). After adjustment for pre-LT IPS grade, time from LT to repeated CE presented negative linear relationship with post-LT IPS grade (r2 = 0.366, p < 0.001) and was the only determinant of post-LT IPS grade (OR, 1.009; 95% CI, 1.003 to 1.014; p = 0.004). CONCLUSIONS Repeated CE is useful to evaluate intrapulmonary vascular change before and after LT. Reversal of IPS after successful LT is time-dependent and follow-up duration should be considered for accurate assessment of IPS after LT.

No abstract available.
Animals ; Lichen Sclerosus et Atrophicus* ; Lichens* ; Paraphimosis*

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this condition sharing similar clinical features including sparse hair, a bulbous nose, an elongated philtrum, short stature, and shortened phalanges. A 10-year-old girl presented with sparse hair and thin hair shafts since birth. She also showed a bulbous nose, an elongated philtrum, brachydactyly of the great toes, and a short stature. Radiological examination showed cone-shaped epiphyses and shortened phalanges. Genetic analysis revealed a novel missense mutation c.2759G>C (p.Trp920Ser) in the TRPS1 gene. We diagnosed this patient with TRPS type III. To our knowledge, only 3 reports have described a genetically analyzed TRPS1 gene mutation among the 11 reported cases of TRPS in the Korean literature. Furthermore, we identified a novel missense mutation in the TRPS1 gene.
Brachydactyly ; Child ; Epiphyses ; Female ; Genetic Diseases, Inborn ; Hair ; Humans ; Lip ; Mutation, Missense* ; Nose ; Parturition ; Toes

PURPOSE: Colorectal cancer patients with liver-confined metastases are classified as stage IV, but their prognoses can differ from metastases at other sites. In this study, we suggest a novel method for risk stratification using clinically effective factors. MATERIALS AND METHODS: Data on 566 consecutive patients with colorectal liver metastasis (CLM) between 1989 and 2010 were analyzed. This analysis was based on principal component analysis (PCA). RESULTS: The survival rate was affected by carcinoembryonic antigen (CEA) level (p < 0.001; risk ratio, 1.90), distribution of liver metastasis (p=0.014; risk ratio, 1.46), and disease-free interval (DFI; p < 0.001; risk ratio, 1.98). When patients were divided into three groups according to PCA score using significantly affected factors, they showed significantly different survival patterns (p < 0.001). CONCLUSION: The PCA scoring system based on CEA level, distribution of liver metastasis, and DFI may be useful for preoperatively determining prognoses in order to assist in clinical decisionmaking and designing future clinical trials for CLM treatment.
Carcinoembryonic Antigen ; Colorectal Neoplasms ; Humans ; Liver* ; Neoplasm Metastasis* ; Odds Ratio ; Passive Cutaneous Anaphylaxis ; Principal Component Analysis ; Prognosis ; Survival Rate

Choriocarcinoma is one of the most common malignancies associated with pregnancy. The characteristics of this malignancy include abnormal growth of the trophoblastic tissue, direct invasion of adjacent organs, and distant metastasis; however, it rarely presents extragonadally. Recently, we have experienced a case of primary hepatic choriocarcinoma in a middle-aged-man, which was characterized by a solitary large hepatic mass with central necrosis and hemorrhaging, as well as metastases to the lung and lymph nodes along the hepatoduodenal ligament. We report this case with a review of the literature.
Choriocarcinoma ; Female ; Ligaments ; Liver ; Lung ; Lymph Nodes ; Necrosis ; Neoplasm Metastasis ; Pregnancy ; Tomography, X-Ray Computed ; Trophoblasts

PURPOSE: To evaluate the technical feasibility and clinical efficacy of the use of local thrombolysis for below-knee deep vein thrombosis (DVT). MATERIALS AND METHODS: From a population of 41 patients with a lower extremity DVT, the prospective clinical trial included 11 patients (7 female, 4 male, average age 61.4 years) treated with catheter-directed thrombolysis with urokinase for below-knee DVT. After removal of the proximal ilofemoral DVT, additional interventional procedures to remove the residual thrombus and restore the venous flow from the below-knee vein were performed in cases of continuous occlusion of venous flow from the popliteal and tibial veins. Under ultrasound (US) guidance, catheter-directed thrombolysis with urokinase was performed through the ipsilateral popliteal vein. After administration of oral anticoagulation therapy, CT and venography were performed to identify patency and the presence of a recurrent thrombosis. RESULTS: Successful removal of the thrombus and restoration of venous flow were achieved in all of the patients (100%). Restoration of flow with a residual thrombus occurred in one case. Focal venous stenosis was discovered in four cases. The duration of urokinase infusion was 1-4 days (average 2.36 days), which was considered long. For 15.2 months, the venous lumen of all cases was preserved without a recurrent thrombosis. CONCLUSION: Catheter-directed thrombolysis is an effective procedure for recanalization of below-knee DVT in patients with a lower extremity DVT.
Constriction, Pathologic ; Female ; Humans ; Lower Extremity ; Male ; Phlebography ; Popliteal Vein ; Prospective Studies ; Thrombolytic Therapy ; Thrombosis ; Urokinase-Type Plasminogen Activator ; Veins ; Venous Thrombosis

PURPOSE: To evaluate the pathology of prospective kidney donors and assess the clinical outcomes of the renal allografts. METHODS: We reviewed the records of 12 prospective kidney donors who underwent kidney biopsy. The indications of kidney biopsy were asymptomatic microscopic hematuria (n=88, 66.7%), decreased glomerular filtration rate (GFR, n=22, 16.7%), mild proteinuria (n=11, 8.3%), history of gross hematuria (n=11, 8.3%). RESULTS: Kidney biopsy in 8 prospective donors with asymptomatic microscopic hematuria showed: 5 (62.5%) thin basement membrane disease (TBMD); 1 IgA nephropathy; 1 Alport's syndrome; 1 mild mesangial widening. Two prospective donors with decreased GFR showed IgA nephropathy and tubulointerstitial lesion. The one with mild proteinuria showed arterionephrosclerosis and the one with a history of gross hematuria showed tubulointerstitial lesion. 4 (33.3%) of the 12 who underwent kidney biopsy were accepted as kidney donors.; 3 donors with TBMD and the donor with mild mesangial widening, who all had microscopic hematuria. Among the 4 donations, there was 1 graft failure and 3 allografts (1 mild mesangial widening, 2 TBMD) have maintained graft function at latest follow up. CONCLUSION: The most common cause of asymptomatic microscopic hematuria in prospective kidney donors was TBMD. Long-term follow up is needed to assess the clinical outcomes of these allografts.
Allografts* ; Basement Membrane ; Biopsy* ; Follow-Up Studies ; Glomerular Filtration Rate ; Glomerulonephritis, IGA ; Hematuria ; Humans ; Kidney* ; Nephritis, Hereditary ; Pathology ; Prospective Studies* ; Proteinuria ; Tissue Donors* ; Transplants