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1.
Article in English | WPRIM | ID: wpr-927001

ABSTRACT

Background/Aims@#Germline mutations of the rearranged during transfection (RET) gene cause multiple endocrine neoplasia type 2 (MEN2). About 85% of RET mutations in MEN2 occur in codon Cys634. The RET D631Y mutation has recently been discovered, and we have studied its molecular expression and clinical consequences. @*Methods@#We analyzed the clinical characteristics of a total of 34 D631Y variant MEN2 individuals from seven families. We also constructed wild-type and mutant C630Y, D631Y, and C634R/W expression vectors and investigated their effects on signaling pathways and ability to correct the phenotypes of RET mutant cells. @*Results@#The median ages at diagnosis of pheochromocytoma and medullary thyroid carcinoma (MTC) were higher in patients with RET D631Y variant MEN2 than in those with the C634R/W variant (49:53.5 years vs. 33.5:27 years, respectively), and the penetration of the D631Y mutation with respect to MTC was lower than that of the C634R/W mutation (32.3% vs. 90%). The effects of the mutant vectors on phosphorylation of RET signaling molecules and focus formation were significantly different from those of wild type, but there were no significant differences between the mutants. D631Y scored significantly higher for chemotaxis and wound healing than C630Y, but lower than C634R and C634W. @*Conclusions@#We suggest that the tumorigenic potential conferred by the D631Y mutation is lower than that conferred by the C634R/W mutation, but higher than that conferred by C630Y. Thus, the risk level of the RET D631Y variant appears to be higher than that of C630Y and lower than that of C634R/W.

2.
Article in Korean | WPRIM | ID: wpr-920233

ABSTRACT

Myofibroblastic sarcoma (MS) is an extremely rare form of head and neck tumor that originates from mesenchymal cells. Myofibroblasts are mesenchymal spindle cells that share the features of fibroblasts and smooth muscle cells. Radiologic examinations such as CT and MRI are useful first-line diagnostic tools for differential diagnosis. Complete surgical excision is recommended for successful treatment. MS can be classified as low, intermediate or high grade considering its histological differentiation and time course. Intermediate and high grade MS are known to be related to local recurrence or distant metastasis. With a review of literature, we report a case of MS arising from the left buccal mucosa in a 56-year-old male who complained of a painless left buccal mass. The patient was successfully treated by margin-free excision and the pathologic findings concluded as intermediate grade without any complication. There was no recurrence observed for two years since the surgery.

3.
Article | WPRIM | ID: wpr-836431

ABSTRACT

Among lesions in the larynx, laryngeal contact granuloma due to persistent tissue irritation can typically be attributed to endotracheal intubation, vocal abuse, or gastro-esophageal reflux disease. Treatment typically includes voice therapy, lifestyle changes and use of anti-reflux medication. Microsurgical removal is only indicated in cases of severe dyspnea due to mass size. Foreign body granuloma is a response of to any foreign material in the tissue. Foreign body granulomas are sometimes misdiagnosed as soft tissue tumors when the causative foreign body is not initially found. Delayed treatment of these foreign bodies may cause complications. We present a case of larynx granuloma due to impacted foreign body, probably fish bone, in the larynx that mimicked contact granuloma. We initially used anti-reflux medication, but to no avail. The laryngeal mass, observed through laryngoscopy, showed no improvement and therefore necessitated a proper pathologic diagnosis. We were able to successfully treat it via trans-oral laser CO2 microsurgery before any complications developed.

4.
Article | WPRIM | ID: wpr-832235

ABSTRACT

Background/Aims@#To investigate whether serum Wisteria floribunda agglutinin-positive human Mac-2-binding protein (WFA+-M2BP) can predict the recurrence of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) after curative resection. @*Methods@#Patients with chronic hepatitis B (CHB) who underwent curative resection for HCC between 2004 and 2015 were eligible for the study. Recurrence was sub-classified as early (2.14 experienced recurrence more frequently than those with a WFA+-M2BP level ≤2.14 (P=0.011 by log-rank test), and had poorer postoperative outcomes than those with a WFA+-M2BP level ≤2.14 in terms of overall recurrence (56.0 vs. 34.5%, P=0.047) and early recurrence (52.0 vs. 20.7%, P=0.001). @*Conclusions@#WFA+-M2BP level is an independent predictive factor of HBV-related HCC recurrence after curative resection. Further studies should investigate incorporation of WFA+-M2BP level into tailored postoperative surveillance strategies for patients with CHB.

5.
Article in Korean | WPRIM | ID: wpr-920131

ABSTRACT

Background and Objectives@#Transoral laser microsurgery (TLM) is minimally invasive and has become the standard approach for early and intermediate stage laryngeal cancers. Many studies show that the oncologic results of TLM are equivalent to those obtained by conventional conservative surgery and radiotherapy (RT). The purpose of this study were to analyze the treatment outcome and predictors of local recurrence in glottic cancer patients who underwent TLM.Subjects and Method Sixty-seven patients who received TLM for glottis cancer between 2008 and 2019 were analyzed retrospectively. Patients were predominantly male (98.5%), with a median age of 64.3 years (range 45 to 87 years). There were 35 cases of T1 (52.2%), 15 cases of T2 (22.3%), and 17 cases of T3 (25.3%) in the primary tumor stage. There were no patients with lymph node metastasis (cN0). When classified into types, there were 2 cases of type I (3%), 15 cases of type II (22.3%), 34 cases of type III (50.7%), 4 cases of type IV (5.9%), 12 cases of type V (17.9%). The local control rate and overall survival rate were calculated with KaplanMeier curve analysis. Additionally, multivariate analysis of factors associated with local recurrence used Cox proportional-hazards model. @*Results@#TLM alone was performed in 54 patients (80.5%) whereas 13 patients (19.5%) underwent TLM followed by adjuvant RT. The 5-year local control rate and 5-year overall survival rate were 81.9% and 93.3%, respectively. In the Univariate analysis, the significant factors of local recurrence were difficult laryngeal exposure [odds ratio (OR)=22.8, 95% confidence interval (CI)=1.7-297.4, p-value=0.03], anterior commissure invasion (OR=17.2, 95% CI=1.9-154.7, p-value=0.004, positive lymphovascular invasion (OR=18.0, 95% CI=2.9-109.8, p-value=0.003) and positive resection margin (OR=9.5, 95% CI=1.6-55.6, p-value=0.011). In the multivariate analysis, the independent factors of local recurrence were anterior commissure invasion [hazard ratio (HR)=18.4, 95% CI=1.98-170.99, p-value=0.010] and lymphovascular invasion (HR=7.5, 95% CI=1.49-38.15, p-value=0.015). No major or lethal complications were observed. @*Conclusion@#TLM is a reliable modality to treat early and select cases of moderately advanced glottic cancer. Our study found that independent factors of local recurrence included anterior commissure invasion, and lymphovascular invasion. These findings may be useful to follow-up glottic cancer patients after TLM.

6.
Gut and Liver ; : 843-851, 2017.
Article in English | WPRIM | ID: wpr-82302

ABSTRACT

BACKGROUND/AIMS: To identify the usefulness of endoscopic ultrasonography with a mini-probe (EUM) and to create a predictive model for esophageal variceal (EV) recurrence and bleeding following esophageal variceal ligation (EVL). METHODS: A total of 144 patients who received EUM prior to prophylactic EVL and met the inclusion criteria were enrolled. EUM findings, EV diameter, paraesophageal vein diameter, and the number of perforating veins were assessed. RESULTS: EV recurrence was observed in 42 patients (29.2%), 10 of whom experienced EV bleeding. Larger diameter of the paraesophageal vein (odds ratio [OR], 1.51; 95% confidence interval [CI], 1.17 to 1.96; p=0.002) and perforating vein (OR, 3.27; 95% CI, 1.11 to 9.65; p=0.032) were significant predictive factors for EV recurrence. However, the diameter of the paraesophageal vein was the only significant risk factor for EV bleeding (adjusted OR, 1.51; 95% CI, 1.06 to 2.16; p=0.022). The areas under the curves of the predictive model for EV recurrence and bleeding were 0.872 (95% CI, 0.811 to 0.934) and 0.811 (95% CI, 0.630 to 0.992), respectively. CONCLUSIONS: The diameter of the paraesophageal vein was a significant predictive factor for EV recurrence and bleeding. The predictive model constructed based on the significant EUM findings exhibited good performance.


Subject(s)
Endosonography , Esophageal and Gastric Varices , Hemorrhage , Humans , Ligation , Recurrence , Risk Factors , Veins
10.
Article in Korean | WPRIM | ID: wpr-112435

ABSTRACT

Hepatoid adenocarcinoma of the stomach (HAS) is a rare form of gastric cancer that histologically resembles hepatocellular carcinoma and is characterized by large amounts of alpha fetoprotein in the serum. The prognosis of HAS is poor compared to that of primary gastric cancer with five-year survival rates of 9% and 44%, respectively. Here, we report five patients diagnosed with HAS. Our experience suggests that an advanced stage of HAS has an extremely poor prognosis, but early detection and radical surgery can help improve the prognosis of the disease.


Subject(s)
Adenocarcinoma , alpha-Fetoproteins , Carcinoma, Hepatocellular , Humans , Prognosis , Stomach , Stomach Neoplasms , Survival Rate
11.
Article in English | WPRIM | ID: wpr-70749

ABSTRACT

We evaluated the prevalence of vitamin B12 deficiency and associated factors in type 2 diabetes patients using metformin. A total of 799 type 2 diabetes patients using metformin was enrolled. Vitamin B12 and folate levels were quantified by chemiluminescent enzyme immunoassay. Vitamin B12 deficiency was defined as vitamin B12 4 ng/mL). The prevalence of vitamin B12 deficiency in metformin-treated type 2 diabetes patients was 9.5% (n = 76), and the mean vitamin B12 level was 662.5 +/- 246.7 pg/mL. Vitamin B12 deficient patients had longer duration of metformin use (P or = 2,000 mg were 2.52 (95% CI, 1.27-4.99, P = 0.008) and 3.80 (95% CI, 1.82-7.92, P or = 10 yr were 4.65 (95% CI, 2.36-9.16, P 1,000 mg) and longer durations (> or = 4 yr) of treatment.


Subject(s)
Aged , Area Under Curve , Diabetes Mellitus, Type 2/complications , Female , Folic Acid/blood , Humans , Hypoglycemic Agents/adverse effects , Immunoassay , Male , Metformin/adverse effects , Middle Aged , Odds Ratio , Patients , Prevalence , ROC Curve , Time Factors , Vitamin B 12/blood , Vitamin B 12 Deficiency/diagnosis
12.
Article in English | WPRIM | ID: wpr-44041

ABSTRACT

Sarcoidosis is a systemic granulomatous disease of unknown etiology that involves many organs, occasionally mimicking malignancy. We herein report a 50-yr-old woman of muscular sarcoidosis of chronic myopathic type, manifested by hypercalcemia and muscle wasting. Besides insignificant hilar lymphadenopathy, her sarcoidosis was confined to generalized atrophic muscles and therefore, F-18 FDG PET/CT alone among conventional imaging studies provided diagnostic clues for the non-parathyroid-related hypercalcemia. On follow-up PET/CT during low-dose steroid treatment, FDG uptake in the muscles disappeared whereas that in the hilar lymph nodes remained. PET/CT may be useful in the evaluation of unexpected disease extent and monitoring treatment response in suspected or known sarcoidosis patients.


Subject(s)
Female , Fluorodeoxyglucose F18 , Humans , Hypercalcemia/complications , Kidney Calculi/complications , Lymph Nodes/diagnostic imaging , Middle Aged , Positron-Emission Tomography , Radiopharmaceuticals , Sarcoidosis/complications , Steroids/therapeutic use , Tomography, X-Ray Computed
13.
Article in Korean | WPRIM | ID: wpr-73021

ABSTRACT

A focal radioactive iodine uptake in the pelvis of a patient with differentiated thyroid cancer needs differential diagnosis besides bone metastasis. Struma ovarii is a rare monodermal ovarian teratoma composed predominantly of mature thyroid tissue; 5-10% of these tumors are malignant. As diagnosis and surgery of thyroid cancer have increased recently, incidental cases of struma ovarii, after radioactive iodine treatment, were occasionally reported. Rare cases of ovary metastasis of thyroid cancer were also reported. We report a case of benign struma ovarii incidentally found in a patient with papillary thyroid cancer. The patient showed a sustained high level of thyroglobulin and focal radioactive iodine uptake in the right pelvis, confused with distant metastasis, after total thyroidectomy and radioactive iodine treatment.


Subject(s)
Diagnosis, Differential , Female , Humans , Iodine , Neoplasm Metastasis , Ovary , Pelvis , Struma Ovarii , Teratoma , Thyroglobulin , Thyroid Gland , Thyroid Neoplasms , Thyroidectomy
14.
Korean Journal of Medicine ; : 680-686, 2011.
Article in Korean | WPRIM | ID: wpr-201146

ABSTRACT

BACKGROUND/AIMS: This study investigated the efficacy and safety of docetaxel/cisplatin/5-fluorouracil (DCF) combination chemotherapy as a first-line treatment in patients with advanced gastric cancer. METHODS: The study enrolled 48 patients diagnosed with unresectable pathologically proven gastric cancer who received DCF combination chemotherapy between April 2006 and August 2009. The dose administered was docetaxel 75 mg/m2 for 1 h and cisplatin 75 mg/m2 for 90 min on day 2, and 5-FU 750 mg/m2 for 24 h on days 1-5, every 3 weeks. The response was assessed every three cycles. The toxicity was evaluated for every chemotherapy course according to the National Cancer Institute (NCI) toxicity criteria ver. 2.0. RESULTS: The median age of the patients was 58 years (range 31-78 years). The median overall survival was 11.5 months (2.3-28.2 months) and the median time to progression was 5.5 months (0.3-18.9 months). No complete remission occurred. Of the patients, 56% achieved a partial response, 21% stable disease, and 10% progressive disease. The overall response rate was 56%. During a total 292 cycles, anemia worse than NCI toxicity grade 3 occurred in 2%, leukopenia in 33.1%, neutropenia in 67.1%, and thrombocytopenia in 4.4%. Neutropenic fever occurred in 33 cycles (11.3%), dose reduction due to side effects in 165 cycles (56.5%), and a regimen change due to side effect in five cycles (1.7%). CONCLUSIONS: Combination chemotherapy with docetaxel, cisplatin, and 5-FU is efficacious, but has relatively high toxicity. A DCF protocol that maximizes its efficiency, while minimizing toxicity, would be more useful as a first-line treatment in patients with advanced gastric cancer.


Subject(s)
Anemia , Cisplatin , Drug Therapy, Combination , Fever , Fluorouracil , Humans , Leukopenia , Neutropenia , Stomach Neoplasms , Taxoids , Thrombocytopenia
15.
Korean Journal of Medicine ; : S233-S238, 2011.
Article in Korean | WPRIM | ID: wpr-209152

ABSTRACT

Myotonic dystrophies (DM) are genetic neuromuscular diseases that have autosomal dominant inheritance and are characterized by progressive muscular weakness. Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK (myotonic dystrophy protein kinase) gene on chromosome 19q13.3. Endocrine disorders associated with DM1 include primary hypogonadism with testicular atrophy and insulin resistance. However, DM1 accompanying hypogonodotropic hypogonadism has not previously been reported in Korea. A 56-year-old man who suffered from progressive weakness and walking disturbance for many years was hospitalized due to pneumonia. During his treatment for pneumonia, he received oral hypoglycemic agents because of hyperglycemia. He was diagnosed with DM1, based on the results of an EMG and genetic analyses. He also displayed anosmia and gynecomastia and was diagnosed with hypogonodotropic hypogonadism, based on the results of hormone tests.


Subject(s)
Atrophy , Gynecomastia , Humans , Hyperglycemia , Hypoglycemic Agents , Hypogonadism , Insulin Resistance , Korea , Male , Middle Aged , Muscle Weakness , Myotonic Dystrophy , Neuromuscular Diseases , Olfaction Disorders , Pneumonia , Walking , Wills
16.
Genomics & Informatics ; : 41-49, 2010.
Article in English | WPRIM | ID: wpr-203600

ABSTRACT

Statins are competitive inhibitors of hydroxy-3-methyl glutaryl coenzyme A (HMG-CoA) reductase and used most frequently to reduce plasma cholesterol levels and to decrease cardiovascular events. However, statins also have been reported to have undesirable side effects such as myotoxicity and hepatotoxicity associated with their intrinsic efficacy mechanisms. Clinical studies recurrently reported that statin therapy elevated the level of liver enzymes such as ALT and AST in patients suggesting possible liver toxicity due to statins. This observation has been drawn great attention since statins are the most prescribed drugs and statin-therapy was extended to a larger number of high-risk patients. Here we employed rat primary hepatocytes and microarray technique to understand underlying mechanism responsible for statin-induced liver toxicity on cell level. We isolated genes whose expressions were commonly modulated by statin treatments and examined their biological functions. It is of interest that those genes have function related to response to stress in particular immunity and defense in cells. Our study provided the basic information on cellular mechanism of statin-induced cytotoxicity and may serve for finding indicator genes of statin-induced toxicity in rat primary hepatocytes.


Subject(s)
Animals , Cholesterol , Coenzyme A , Gene Expression , Hepatocytes , Humans , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Liver , Oxidoreductases , Plasma , Rats
17.
Article in Korean | WPRIM | ID: wpr-96420

ABSTRACT

Non-islet cell tumor induced hypoglycemia (NICTH) is attributable to overproduction of insulin-like growth factor-II (IGF-II) by solid tumors, and these tumors usually originate from mesenchymal or epithelial cells. Gastrointestinal stromal tumor (GIST) is a rare mesenchymal tumor and most commonly find in the gastrointestinal tract. It is usually expresses the CD117 (stem cell factor receptor, c-kit) detected by immunohistochemistry. Hypoglycemia associated with GIST is very rare and this has not yet been reported in Korea. A 72-year-old man was hospitalized due to frequent episodes of confusion. It was observed that non-hyperinsulinemic hypoglycemia, an elevated serum IGF-II level and a huge liver mass. The histology of liver mass showed c-kit (CD117) positivity, which was consistent with GIST, but it was surgically unresectable. He was treated with imatinib mesylate. Although he recieved palliative treatment, he still experienced intermittent fasting hypoglycemia. After 2 months, the serum IGF-II level was even higher than before. We changed imatinib mesylate to sunitinib malate and performed radiotherapy on the liver mass. Although the change of the liver mass was not significant, he did not suffer from hypoglycemia for three months afterwards.


Subject(s)
Aged , Benzamides , Epithelial Cells , Gastrointestinal Stromal Tumors , Gastrointestinal Tract , Humans , Hypoglycemia , Immunohistochemistry , Indoles , Insulin-Like Growth Factor II , Korea , Liver , Mesylates , Palliative Care , Piperazines , Pyrimidines , Pyrroles , Imatinib Mesylate
18.
Article in Korean | WPRIM | ID: wpr-76631

ABSTRACT

The new onset diabetes mellitus after transplantation is common and contributes to recipient morbidity and mortality. Here, we describe the prevalence, risk factors, pathogenesis, influence on outcomes, diagnosis, and treatment of posttransplant diabetes mellitus.


Subject(s)
Diabetes Mellitus , Prevalence , Risk Factors , Transplants
19.
Article in Korean | WPRIM | ID: wpr-720071

ABSTRACT

Hepatosplenic T-cell lymphoma is a rare histologic type of peripheral T-cell lymphoma, which is characterized clinically by predominant involvement of the liver and spleen, with little or no adenopathy, and an often aggressive course. We experienced a case of a 44-year-old female who was diagnosed with hepatosplenic gamma delta T-cell lymphoma with bone marrow involvement. The patient was treated with multi- agent chemotherapy with Bortezomib plus CHOP (cyclophosphamide, vincristine, prednisone, doxorubicin), Alemtuzumab plus DHAP (dexamethasone, cisplatin, cytarabine), and IMVP-16 (Ifosfamide, MTX, etoposide); however, she failed to achieve partial remission. After salvage chemotherapy (GemOx: Gembicine, oxaliplatin, dexamethasone), she underwent allogeneic stem cell transplantation from an HLA sibling donor with one mismatch . The patient is currently living and has remained in complete remission for 6 months since transplantation.


Subject(s)
Adult , Antibodies, Monoclonal, Humanized , Bone Marrow , Boronic Acids , Cisplatin , Female , Humans , Liver , Lymphoma , Lymphoma, T-Cell , Lymphoma, T-Cell, Peripheral , Organoplatinum Compounds , Prednisone , Pyrazines , Siblings , Spleen , Stem Cell Transplantation , Stem Cells , Tissue Donors , Transplants , Vincristine , Bortezomib
20.
Article in Korean | WPRIM | ID: wpr-12184

ABSTRACT

Rare autosomal dominant disorders associated with various tumors and cysts, and several kinds of pancreatic lesions have been described in patients with von Hippel- Lindau (VHL) disease, but there have been few studies concerned with the variations of the pancreatic duct. We experienced a case of pancreatic dual Wirsung ducts in a patient with VHL disease. Computed tomography scans showed that multiple cysts had nearly completely replaced the pancreas, there was a solid tumor on the uncinate process of the pancreas and a left renal mass suggested renal cell carcinoma. ERCP shows that the Santorini duct and Wirsung duct were fused in a normal fashion, and another Wirsung duct had shrub-like branches that are commonly seen in pancreatic divisum.


Subject(s)
Carcinoma, Renal Cell , Cholangiopancreatography, Endoscopic Retrograde , Humans , Pancreas , Pancreatic Ducts , von Hippel-Lindau Disease
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