OBJECTIVETo study the clinical pathologic and immunohistochemical features of gastrointestinal mesenchymal tumors (GIMTs), and to investigate the value of molecular markers in GIMTs clinical differentiation diagnosis.

METHODSThe clinical and pathological data of 210 cases of GIMTs, collected from Jan. 1987 to Dec. 2005 in our hospital, were investigated retrospectively. GIMTs were rediagnosed by using standard immunostaining technique in paraffin-embedded tissue. The expression level of CD117, CD34, Desmin, SMA and PS100 were detected by immunohistochemical method.

RESULTSAmong 210 cases of GIMTs, 127 cases were Gastrointestinal stromal tumors (GISTs) (60.5%), 33 leiomyomas and leiomyosarcomas (15.7%), 27 neurogenic tumours (12.8%), and 23 miscellaneous tumors (11.0%). The incidences of GIST, leiomyoma and leiomyosarcoma were similar among men and women. Men were more likely to develop neurogenic tumors and miscellaneous tumors than women. Of all the GISTs, 51.2% cases originated from stomach, 19.7% from small intestine, 11.0% from esophagus, 10.2% from colon and rectum. The most common location of leiomyomas and leiomyosarcomas was esophagus (45.5%). The most common location of neurogenic tumors was retroperitoneum (74.1%). Common symptoms of GISTs included digestive tract hemorrhage in 36 cases (28.3%), abdominal pain in 27 cases (21.3%) and abdominal mass in 24 cases (18.9%). Other GIMT cases except GISTs had no first symptom of digestive tract hemorrhage. It was noticed that 79.5% of GISTs had no obvious invasion, and 72.7% of leiomyomas and leiomyosarcomas had no obvious invasion. 33.3% of neurogenic tumors invaded the adjacent organs or tissues. No metastases had been found in other GIMT cases except GISTs. The neoplastic cells of GISTs were composed of various percentage of spindle (72.5%), epithelioid (11.8%) and mixed-type cells (15.7%). The percentage of spindle cells in leiomyomas and leiomyosarcomas was 94. The immunohistochemical results of GISTs showed that the positive rate of CD117 was 93.7%, CD34 was 69.3%, Desmin was 13.4%, SMA was 12.6%, and PS100 was 10.2%. The immunohistochemical results of leiomyomas and leiomyosarcomas showed that the positive rate of Desmin was 78.5%, SMA was 63.6%, while as the expressions of CD117, CD34, and PS100 were negative. Diffuse strong positive staining of PS100 was observed in 88.9% of neurogenic tumor patients.

CONCLUSIONSGISTs are the most common tumors among GIMTs. GISTs are different from neurogenic tumors, leiomyomas and leiomyosarcomas in initial symptom, tumor location, biological behavior and immunophenotype. Immunohistochemistry plays an important role in differentiating GISTs from leiomyomas and neurogenic tumors.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers ; analysis ; Child ; Child, Preschool ; Female ; Gastrointestinal Neoplasms ; pathology ; Humans ; Immunohistochemistry ; Infant ; Male ; Mesenchymoma ; pathology ; Middle Aged ; Young Adult

No abstract available.
Diagnosis* ; Exanthema* ; Lymphadenitis* ; Scrub Typhus*

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is the 4th report in the world and the 1st one in Korea of a patient with rec(20)dup(20p).
Abnormalities, Multiple/genetics ; Adult ; *Chromosome Inversion ; *Chromosomes, Human, Pair 20 ; Female ; Humans ; Infant, Newborn ; Phenotype ; *Recombination, Genetic ; *Trisomy

We report here on an unusual case of mucinous cystic tumor that was associated with endometriosis in the cecum. A 45-year-old woman was admitted to the hospital due to her 5 day history of right lower quadrant abdominal pain with a mild fever. A laparotomy was performed under the clinical impression of the tubo-ovarian abscess. A relatively well defined a multi-locular cystic mass (8.0x8.0x7.0 cm) filled with white-to-yellow thick mucoid material was found in the wall of the cecum. The right ovary and fallopian tube showed marked fibrous adhesion to the external surface of the cecal mass. A right hemicolectomy and salpingo-oophorectomy were performed. Histologically, the tumor was similar to those of ovarian borderline mucinous tumor, the intestinal type, and the mucinous epithelium of the tumor was merged with the endometriotic epithelium and stroma. On immunostaining, the CK20 positive mucinous epithelium was well demarcated from the CK7 endometriotic epithelium. This is the first case of low-grade mucinous cystic tumor intimately associated with intestinal endometriosis in the cecum.
Abdominal Pain ; Abscess ; Cecum* ; Endometriosis ; Epithelium ; Fallopian Tubes ; Female ; Fever ; Humans ; Laparotomy ; Middle Aged ; Mucins* ; Ovary

Primary thyroid cancers including papillary, follicular, poorly differentiated, and anaplastic carcinomas show substantial differences in biological and clinical behaviors. Even in the same pathological type, there is wide variability in the clinical course of disease progression. The molecular carcinogenesis of thyroid cancer has advanced tremendously in the last decade. However, specific inhibition of oncogenic pathways did not provide a significant survival benefit in advanced progressive thyroid cancer that is resistant to radioactive iodine therapy. Accumulating evidence clearly shows that cellular energy metabolism, which is controlled by oncogenes and other tumor-related factors, is a critical factor determining the clinical phenotypes of cancer. However, the role and nature of energy metabolism in thyroid cancer remain unclear. In this article, we discuss the role of cellular energy metabolism, particularly mitochondrial energy metabolism, in thyroid cancer. Determining the molecular nature of metabolic remodeling in thyroid cancer may provide new biomarkers and therapeutic targets that may be useful in the management of refractory thyroid cancers.
Carcinogenesis ; Carcinoma ; Disease Progression ; Energy Metabolism* ; Iodine ; Mitochondria ; Oncogenes ; Phenotype ; Thyroid Gland* ; Thyroid Neoplasms ; Biomarkers

OBJECTIVETo investigate the impact of energy metabolism at the cellular level on the expression of the water channel protein aquaporin 1 (AQP1).

METHODSBalb/c mouse fibroblasts were incubated with iodoacetamide (IA) in vitro, and the changes in AQP1 expression were detected by immunoblotting and immunohistochemistry at 0, 4, and 6 h.

RESULTSIA induced the expression of AQP1 at 4 and 6 h accompanied with cell death. Reverse transcription PCR showed an increased expression of AQP1 mRNA in the cells. AQP1 expression was also upregulated by the inhibitor of microtubule and cytochrome C oxidase.

CONCLUSIONA pretranslational regulation occurs in IA-induced AQP1 expression in mouse fibroblasts, and the up-regulated AQP1 accumulation is characterized by mitochondria-related energy dependence.

Animals ; Aquaporin 1 ; genetics ; metabolism ; Cells, Cultured ; Energy Metabolism ; Fibroblasts ; cytology ; metabolism ; Iodoacetamide ; pharmacology ; Mice ; Mice, Inbred BALB C ; Mitochondria ; metabolism ; RNA, Messenger ; genetics ; metabolism ; Up-Regulation ; drug effects

PURPOSE: Epidermal growth factor receptor (EGFR) T790M mutation serves as an important predictor of osimertinib efficacy. However, little is known about how it works among patients with various timings of T790M emergence and treatment. MATERIALS AND METHODS: Advanced EGFR-mutant lung adenocarcinoma patients with positive T790M mutation in tumor were retrospectively enrolled and observed to determine the outcomes of osimertinib treatment. We evaluated the association between patients’ characteristics and the efficacy of osimertinib treatment, particularly with respect to the timing of T790M emergence and osimertinib prescription. RESULTS: A total of 91 patients were enrolled, including 14 (15.4%) with primary and 77 (84.6%) with acquired T790M mutation. The objective response rate and disease controlratewere 60.9% and 85.1%, respectively. The median progression-free survival (PFS) and overall survival were 11.5 months (95% confidence interval [CI], 9.0 to 14.0) and 30.4 months (95% CI, 11.3 to 49.5), respectively. There was no significant difference in response rate and PFS between primary and acquired T790M populations. In the acquired T790M subgroup, patientswho received osimertinib after T790M had been confirmed by rebiopsy had a longer PFS than those with intercalated treatments between rebiopsy and osimertinib prescription (14.0 months [95% CI, 9.0 to 18.9] vs. 7.2 months [95% CI, 3.7 to 10.8]; adjusted hazard ratio, 0.48 [95% CI, 0.24 to 0.98; p=0.043]). Rebiopsy timing did not influence the outcome. CONCLUSION: Osimertinib prescription with intercalated treatment following rebiopsy but not the timing of T790M emergence influenced the treatment outcome. We suggest that it is better to start osimertinib treatment once T790M mutation has been confirmed by biopsy.
Adenocarcinoma ; Biopsy ; Disease-Free Survival* ; Humans ; Lung ; Prescriptions ; Receptor, Epidermal Growth Factor ; Retrospective Studies ; Treatment Outcome

Background: Iliotibial band friction syndrome (ITBFS) is a common disorder of the lateral knee. Previous research has reported that the iliotibial band (ITB) thickness (ITBT) is correlated with ITBFS, and ITBT has been considered to be a key morphologic parameter of ITBFS. However, the thickness is different from inflammatory hypertrophy. Thus, we made the ITB cross-sectional area (ITBCSA) a new morphological parameter to assess ITBFS. Methods: Forty-three patients with ITBFS group and from 43 normal group who underwent T1W magnetic resonance imaging were enrolled. The ITBCSA was measured as the cross-sectional area of the ITB that was most hypertrophied in the magnetic resonance axial images. The ITBT was measured as the thickest site of ITB. Results: The mean ITBCSA was 25.24 ± 6.59 mm 2 in the normal group and 38.75 ± 9.11 mm 2 in the ITBFS group. The mean ITBT was 1.94 ± 0.41 mm in the normal group and 2.62 ± 0.46 mm in the ITBFS group. Patients in ITBFS group had significantly higher ITBCSA (P < 0.001) and ITBT (P < 0.001) than the normal group. A receiver operator characteristic curve analysis demonstrated that the best cut-off value of the ITBT was 2.29 mm, with 76.7% sensitivity, 79.1% specificity, and area under the curve (AUC) 0.88. The optimal cut-off score of the ITBCSA was 30.66 mm 2 , with 79.1% sensitivity, 79.1% specificity, and AUC 0.87. Conclusions ITBCSA is a new and sensitive morphological parameter for diagnosing ITBFS, and may even be more accurate than ITBT.

Background: Iliotibial band friction syndrome (ITBFS) is a common disorder of the lateral knee. Previous research has reported that the iliotibial band (ITB) thickness (ITBT) is correlated with ITBFS, and ITBT has been considered to be a key morphologic parameter of ITBFS. However, the thickness is different from inflammatory hypertrophy. Thus, we made the ITB cross-sectional area (ITBCSA) a new morphological parameter to assess ITBFS. Methods: Forty-three patients with ITBFS group and from 43 normal group who underwent T1W magnetic resonance imaging were enrolled. The ITBCSA was measured as the cross-sectional area of the ITB that was most hypertrophied in the magnetic resonance axial images. The ITBT was measured as the thickest site of ITB. Results: The mean ITBCSA was 25.24 ± 6.59 mm 2 in the normal group and 38.75 ± 9.11 mm 2 in the ITBFS group. The mean ITBT was 1.94 ± 0.41 mm in the normal group and 2.62 ± 0.46 mm in the ITBFS group. Patients in ITBFS group had significantly higher ITBCSA (P < 0.001) and ITBT (P < 0.001) than the normal group. A receiver operator characteristic curve analysis demonstrated that the best cut-off value of the ITBT was 2.29 mm, with 76.7% sensitivity, 79.1% specificity, and area under the curve (AUC) 0.88. The optimal cut-off score of the ITBCSA was 30.66 mm 2 , with 79.1% sensitivity, 79.1% specificity, and AUC 0.87. Conclusions ITBCSA is a new and sensitive morphological parameter for diagnosing ITBFS, and may even be more accurate than ITBT.

BACKGROUND: The aim of the study was to classify newly diagnosed diabetic patients who initially presented with diabetic ketoacidosis (DKA) into specific types of diabetes and to describe the clinical and biochemical characteristics of patients with fulminant type 1 DM in Korea. METHODS: Using data from 4 hospitals of CMC from 1 January 1999 to 1 March 2008, we identified all patients who manifested DKA when they were first diagnosed as diabetes. Clinical and laboratory data were reviewed from medical records. RESULTS: We identified 51 newly diagnosed diabetic patients manifested DKA. Among them, 14 (27.4%) patients were classified as autoimmune type 1 DM, 8 (15.7%) as antibody negative type 1 DM, 5 (9.8%) as fulminant type 1, 16 (31.4%) as type 2 DM and 8 (15.7%) as secondary DM. Five patients who fulfilled the criteria of fulminant type 1 DM were older (32.2 +/- 10.7 vs. 15.7 +/- 4.4 years, P = 0.010), had shorter duration of symptoms (4.2 +/- 2.7 vs.16.7 +/- 15.2 days, P = 0.014) and lower stimulated C-peptide levels (0.1 +/- 0.0 vs. 0.7 +/- 0.6 ng/mL, P = 0.050) compared with patients with autoimmune type 1 DM. CONCLUSION Newly diagnosed diabetic patients presenting with DKA composed of heterogenous types of diabetes. The prevalence of fulminant type 1 diabetes among them was 9.8% and the clinical and biochemical characteristics of these patients were different from those of autoimmune type 1 DM.
C-Peptide ; Diabetic Ketoacidosis ; Humans ; Korea ; Prevalence