Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

Clinical trials have not consistently supported the use of induction chemotherapy (IC) for locally advanced head and neck squamous cell cancer. Hypopharynx and base of tongue (BOT) cancer has shown relatively poor survival. We investigated the role of IC in improving outcome over current chemoradiotherapy (CRT) in patients with hypopharynx and BOT cancer. Methods: Treatment-naïve patients with stage III/IV (M0) hypopharynx or BOT cancer were randomly assigned to receive CRT alone (CRT arm: cisplatin 100 mg/m2 on D1 3-weekly, two times plus radiotherapy 68.4 Gy/30 fractions on weekdays) versus two 21-day cycles of IC with TPF (docetaxel & cisplatin 75 mg/m2 on D1, and fluorouracil 75 mg/m2 on D1-4) followed by the same CRT regimen (IC arm). The primary endpoint was progression-free survival (PFS). Results: This study closed early after enrollment of 36 patients (19 in the CRT arm, 17 in the IC arm). After a median follow-up of 47.2 months, there was no significant difference in PFS: the median PFS was 26.8 months for the CRT arm and was not reached for the IC arm (p = 0.13). However, the survival curves were widely separated with a plateau after 3 years, suggesting a potential survival benefit from IC: 3-year PFS rates were 45% and 68%, and 3-year overall survival rates were 56% and 86%, in the CRT and IC arms, respectively. Conclusions: This study failed to demonstrate that induction TPF chemotherapy improves survival in patients with BOT and hypopharynx cancer. However, it suggested a favorable outcome with IC to this population.

PURPOSE: Papillary thyroid carcinomas (PTCs) frequently involve genetic alterations. The objective of this study was to investigate genetic alterations and further explore the relationships between these genetic alterations and clinicopathological characteristics in a high-recurrence risk (node positive, N1) PTC group. MATERIALS AND METHODS: Tumor tissue blocks were obtained from 240 surgically resected patients with histologically confirmed stage III/IV (pT3/4 or N1) PTCs. We screened gene fusions using NanoString’s nCounter technology and mutational analysis was performed by direct DNA sequencing. Data describing the clinicopathological characteristics and clinical courses were retrospectively collected. RESULTS: Of the 240 PTC patients, 207 (86.3%) had at least one genetic alteration, including BRAF mutation in 190 patients (79.2%), PIK3CA mutation in 25 patients (10.4%), NTRK1/3 fusion in six patients (2.5%), and RET fusion in 24 patients (10.0%). Concomitant presence of more than two genetic alterations was seen in 36 patients (15%). PTCs harboring BRAF mutation were associated with RET wild-type expression (p=0.001). RET fusion genes have been found to occur with significantly higher frequency in N1b stage patients (p=0.003) or groups of patients aged 45 years or older (p=0.031); however, no significant correlation was found between other genetic alterations. There was no trend toward favorable recurrence-free survival or overall survival among patients lacking genetic alterations. CONCLUSION: In the selected high-recurrence risk PTC group, most patients had more than one genetic alteration. However, these known alterations could not entirely account for clinicopathological features of high-recurrence risk PTC.
Gene Fusion ; Humans ; Retrospective Studies ; Sequence Analysis, DNA ; Thyroid Gland* ; Thyroid Neoplasms*

Breast cancer is a common malignancy in women and metastasizes to the liver, the lung, the brain, and the bone, but metastasis to the colon is rare. We describe a 58-year-old woman with colon metastasis of breast cancer. She was diagnosed with right colon cancer, and during investigation for colon cancer, we found a breast cancer. She received a palliative right hemicolectomy due to obstruction before chemotherapy. The histology of the tissue taken from the right colon was shown to be the same as that of the left breast mass. This is a case of colonic metastasis from breast cancer and we report this case with a review of literature.
Brain ; Breast ; Breast Neoplasms ; Colon ; Colonic Neoplasms ; Female ; Humans ; Liver ; Lung ; Middle Aged ; Neoplasm Metastasis

PURPOSE: The critical pathway (CP) is to standardize the clinical practice of specialists working to optimize care. The objective of this study was to develop a critical pathway for the surgical treatment of patients with colorectal or gastric cancer and to evaluate the results of the CP. METHODS: Twenty-one patients with colorectal cancer, who were managed according to the CP between August 2005 and November 2005, were compared with 18 patients for whom this pathway had not been used between June 2004 and September 2004. Forty-eight patients with gastic cancer, who were managed according to the CP between June 2005 and September 2005, were compared with 49 patients for whom this pathway had not been used daring the same period in 2004. The length of stay and the cost per patients were compared between the CP group and the non-CP group. RESULTS: For patients with colorectal cancer, the postoperative hospital length of stay in the CP group was significantly shorter (9.0 vs. 12.3 days, P<0.001), but for patients with gastric caner, there was no difference (10.6 vs. 11.4, P=0.134). The mean hospital charges were won5,037,816 and won5,263,508 for colorectal cancer and for gastric cancer, respectively, and won4,808,602 and won4,674,329, for the CP and the non-CP groups, respectively, but these differences were not significant. CONSLUSIONS: The critical pathway in colorectal and stomach surgery decreased the length of stay and might regulate hospital charges. Such a pathway could be easily designed and implemented at hospitals and could standardize clinical practice.
Colorectal Neoplasms ; Critical Pathways* ; Hospital Charges ; Humans ; Length of Stay ; Specialization ; Stomach ; Stomach Neoplasms*

PURPOSE: Anal diseases are a common complication among patients with leukemia, and the perianal abscess may prove to be the most fatal among anal diseases. We report here the prevalence, the treatment methods, and the prognosis for anal diseases among patients with leukemia. METHODS: Among the 310 patients who were diagnosed with and treated for leukemia between October 1999 and September 2000, we investigated the medical records of 53 patients with complications due to anal diseases. RESULTS: Among the 310 patients with leukemia, 53 (17.1%) reported anal diseases. There were 30 patients with hemorrhoids, 15 patients with a perianal abscess, 3 patients with an anal fistula, 3 patients with a fissure and 2 patients with hemorrhoids and fistulas. Anal pain was the most common complaint. Conservative treatment improved the symptoms in 42 patients (79.2%) while surgery was necessary in the remaining 11 patients (20.8%). A hemorrhoidectomy was undertaken in 4 patients, a drainage procedure in 4 paients, and a fistulotomy in 3 patients. Throughout the study period, 6 patients died (11.3%), 3 of them with perianal abscesses. Among the 15 patients with a perianal abscess, 13 showed fever (87%), and 9 patients underwent drainage (4 surgical drainages and 5 natural drainages). E. coli was the most commonly cultured organism. CONCLUSIONS: The incidence of anal diseases in patients with leukemia was high. Nonsurgical methods were sufficient for hemorrhoids and fistulas. For a perianal abscess, drainage should be undertaken when abscess formation is evident. When abscess formation is not evident, medical treatment is the primary modality, and surgery should be considered only when medical treatment fails to improve or worsens the patient's condition, but the prognosis is poor.
Abscess ; Drainage ; Fever ; Fistula ; Hemorrhoidectomy ; Hemorrhoids ; Humans ; Incidence ; Leukemia* ; Medical Records ; Prevalence ; Prognosis ; Rectal Fistula

BACKGROUND: Frozen shoulder is not an uncommon disease, which is associated with chronic pain and joint movement limitation. However, there are numerous devices to assist in the treatment of shoulder pain, but their efficacy has not been proven and their use remains immensely controversial. Therefore, a randomized clinical study was conducted to determine the effectiveness of a low-frequency stimulator for the treatment of frozen shoulder. METHODS: A randomized clinical trial was carried out on 40 patients with frozen shoulder, with 40 patients assigned to two groups; a control treatment group (group C, n = 20) and a low frequency stimulator application group (group T, n = 20). Both groups were given a routine treatment modality, such as trigger point injection, intramuscular stimulation or suprascapular nerve block etc. The level of the shoulder pain was evaluated using a 100mm VAS (visual analog scale) at each visit, with the limitation in the range of motion simultaneously evaluated. RESULTS: All the subjects improved after treatment, with the VAS scores after termination of treatment showed a statistically significant reduction (P < 0.05). However, there was no significant difference between the two groups. One month after termination of 5 cycles of treatment, group T maintained their improved state, whereas the pain in some of those in group C reemerged, which also showed a statistically significant difference (P < 0.05). The limitation in the range of motion improved, with most subjects able to resume daily activity. CONCLUSIONS: Although the low frequency stimulation provided no more pain relief than routine treatment, the effect was significantly prolonged. From this result, low frequency stimulation can be considered to aide the therapeutic effect of classical frozen shoulder therapy.
Bursitis* ; Chronic Pain ; Humans ; Injections, Intramuscular ; Joints ; Nerve Block ; Range of Motion, Articular ; Shoulder Pain ; Trigger Points

Lymphoepithelial cyst of the pancreas is a rare benign cystic tumor which is histologically characterized by cyst containing keratin, lined by mature squamous epithelium surrounded by lymphoid tissue, often with prominent follicles. Cystic lesions of the pancreas are more often detected because sensitive abdominal imaging tests are used for multiple indications, but preoperative differential diagnosis is difficult despite the advancements of imaging technologies. We herein report a case of lymphoepithelial cyst incidentally found on routine abdominal ultrasonography which showed characteristic findings on endoscopic ultrasonography preoperatively and discuss the radiologic features of lymphoepithelial cyst.
Diagnosis, Differential ; Endosonography* ; Epithelium ; Lymphoid Tissue ; Pancreas* ; Ultrasonography

PURPOSE: HER2 is a 185-kDa transmembrane protein, which shares a considerable homology with the epidermal growth factor receptor. The over-expression of HER2 has been reported to be associated with a poor clinical outcome in breast cancer. In clinical practice and research studies, immunohistochemistry (IHC) and fluorescence in-situ hybridization (FISH) have commonly been used for the detection of HER2. The aim of this study was to evaluate the prognostic significance of HER2 according to the results of IHC and FISH for HER2. METHODS: IHC and FISH were performed on the same breast cancer specimens from 388 Korean patients, with a mean follow-up duration of 59.8 months, with survival analyses were made according to the results of the HER2 detection methods; A0485 Ab (DAKO, Denmark) and the HER2 test kit (DAKO HerceptTest(TM), Denmark) for IHC, and the HER2 FISH kit (Vysis Inc., Downers Grove, Ill) for FISH were used. RESULTS: The IHC showed HER2 over-expression rates of 34.8% and 26.8% by the A0485 antibody and HercepTest, respectively. The rate of HER2 amplification by FISH in the same specimen was 25.8%. HER2 was confirmed as an independent prognostic factor by multivariate analyses regardless of the detection methods. In the survival analyses, according to the IHC results for HER2, only the 3+ scoring group in the positive results was associated with a poor survival. However, the positive group in the FISH test revealed a significantly worse survival than the FISH-negative group. CONCLUSION: For the prediction of survival of patients with breast cancer, the FISH test would be more useful than IHC, especially in the 2+ scoring IHC cases.
Breast Neoplasms* ; Breast* ; Fluorescence ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Multivariate Analysis ; Prognosis ; Receptor, Epidermal Growth Factor ; Survival Analysis*

PURPOSE: HER2 is a 185-kDa transmembrane protein, which shares a considerable homology with the epidermal growth factor receptor. The over-expression of HER2 has been reported to be associated with a poor clinical outcome in breast cancer. In clinical practice and research studies, immunohistochemistry (IHC) and fluorescence in-situ hybridization (FISH) have commonly been used for the detection of HER2. The aim of this study was to evaluate the prognostic significance of HER2 according to the results of IHC and FISH for HER2. METHODS: IHC and FISH were performed on the same breast cancer specimens from 388 Korean patients, with a mean follow-up duration of 59.8 months, with survival analyses were made according to the results of the HER2 detection methods; A0485 Ab (DAKO, Denmark) and the HER2 test kit (DAKO HerceptTest(TM), Denmark) for IHC, and the HER2 FISH kit (Vysis Inc., Downers Grove, Ill) for FISH were used. RESULTS: The IHC showed HER2 over-expression rates of 34.8% and 26.8% by the A0485 antibody and HercepTest, respectively. The rate of HER2 amplification by FISH in the same specimen was 25.8%. HER2 was confirmed as an independent prognostic factor by multivariate analyses regardless of the detection methods. In the survival analyses, according to the IHC results for HER2, only the 3+ scoring group in the positive results was associated with a poor survival. However, the positive group in the FISH test revealed a significantly worse survival than the FISH-negative group. CONCLUSION: For the prediction of survival of patients with breast cancer, the FISH test would be more useful than IHC, especially in the 2+ scoring IHC cases.
Breast Neoplasms* ; Breast* ; Fluorescence ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Multivariate Analysis ; Prognosis ; Receptor, Epidermal Growth Factor ; Survival Analysis*