Liquid biopsy for detection of mutation from circulating tumor DNA is a new technology which is attractive in that it is non-invasive. Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKI) is an effective first line drug for advanced non-small cell lung cancer patients who harbor activating EGFR mutation. During the course of treatment, resistance against TKI arises which can be contributed to EGFR T790M mutation in about 50–60% of patients. Third generation TKI may overcome the resistance. In patients who cannot undergo tissue biopsy due to variable reasons, liquid biopsy is an excellent alternative for the detection of EGFR T790M mutation. However, this relatively novel method requires standardization and vigorous quality insurance. Thus, a standard set of guideline recommendations for liquid biopsy for EGFR mutation testing suitable for the Korean medical community is necessary. In this article, we propose a set of provisional guideline recommendations that was discussed and approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists.
Biopsy ; Carcinoma, Non-Small-Cell Lung ; DNA ; Genes, erbB-1 ; Humans ; Insurance ; Lung Neoplasms ; Lung ; Methods ; Pathology ; Protein-Tyrosine Kinases ; Receptor, Epidermal Growth Factor

Spontaneous hepatic rupture, which is a complication of hypertension in pregnancy, is extremely rare. However, high maternal and perinatal mortality rates are observed. Several factors, namely, age over 30 years, multiparity, severe preeclampsia, or HELLP syndrome (a group of symptoms which include hemolytic anemia, hepatic enzyme increase, and thrombocytopenia), are associated with this condition. An autopsy case of a woman with twin pregnancy was studied. She was at 36 weeks of gestational age and suffered from the sudden development and rapid progression of hypertension. Moreover, she died because of spontaneous hepatic rupture despite an emergency operation. Autopsy revealed a capsular rupture of the right lobe of the liver with numerous blood clots and hypovolemic signs, such as weak postmortem lividity and palor of the skin and conjunctiva. A close examination of the trunk and liver for the classification of the cause of rupture and an assessment of medical history, such as preeclampsia, are needed during postmortem examination of pregnant women with hepatic rupture or her fetus. To the best of our knowledge, this fatal complication in pregnant women is not yet presented in postmortem examinations in Korea. Thus, we report the findings of this case to share the knowledge.
Anemia, Hemolytic ; Autopsy* ; Classification ; Conjunctiva ; Emergencies ; Female ; Fetus ; Gestational Age ; HELLP Syndrome ; Humans ; Hypertension ; Hypertension, Pregnancy-Induced ; Hypovolemia ; Korea ; Liver ; Parity ; Perinatal Mortality ; Pre-Eclampsia* ; Pregnancy ; Pregnancy, Twin ; Pregnant Women* ; Rupture* ; Rupture, Spontaneous ; Skin

Pulmonary artery aneurysms (PAAs) are rare, and massive hemoptysis can lead to death if appropriate diagnosis and treatment is not provided. PAAs can be of congenital, acquired, or idiopathic origin, and the clinical symptoms are various. Among all reported cases, one-third of the patients died due to rupture. Optimal treatment or guidelines for PAAs remain uncertain. Herein, we report autopsy findings from a woman with PAA. The patient was taking medication for tuberculosis. On bronchoscopy, a polypoid lesion was found, suspected to be an inflammatory polyp. Biopsy was performed and massive bleeding into the airway occurred. The bleeding could not be controlled by bronchoscopic suction, and cardiac arrest occurred 30 minutes after biopsy; the patient subsequently died. Autopsy revealed a round, calcified PAA in the bronchus of the right middle lobe; the end of the PAA was torn. Hypovolemic signs, including weak postmortem lividity and pallor of the skin and conjunctivae, were observed. Visual inspection and histopathological examination of the right lung revealed tuberculosis and congestion. Cases related PAA are not uncommon, but autopsy cases of death occurring after biopsy of PAA mimicking bronchial polyps are rarely reported.
Aneurysm* ; Autopsy ; Biopsy* ; Bronchi ; Bronchoscopy ; Conjunctiva ; Diagnosis ; Estrogens, Conjugated (USP) ; Female ; Heart Arrest ; Hemoptysis ; Hemorrhage ; Humans ; Hypovolemia ; Lung ; Pallor ; Polyps* ; Pulmonary Artery* ; Rupture ; Skin ; Suction ; Tuberculosis

Pseudohypoparathyroidism (PHP) is a group of genetic disorders in which the kidneys fail to respond to parathyroid hormone. Genetic defects in the GNAS complex locus lead to reduced Gsalpha (alpha-subunit of the heterotrimeric stimulatory G protein) activity in PHP type Ia patients. These patients exhibit characteristics of Albright hereditary osteodystrophy (AHO) and hypocalcemia, increased parathyroid hormone, and resistance to other Gsalpha protein-coupled hormones. AHO has a wide range of manifestations such as short stature, obesity, round face, subcutaneous ossification, and bone shortening in the hands and feet. In this study, we present the case of a 47-yr-old woman who was diagnosed with PHP type Ia with AHO. She showed tetany, dizziness, irritability to light, decreased visual acuity, cognitive impairment, and motor dysfunction. Direct sequencing identified a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1. To our knowledge, this case is the first report in Korea of PHP type Ia caused by a heterozygous missense mutation in exon 6 (c.466G>A, p.Asp156Asn) in GNAS1.
Dizziness ; Exons ; Female ; Foot ; Hand ; Humans ; Hypocalcemia ; Kidney ; Korea ; Mutation, Missense ; Obesity ; Parathyroid Hormone ; Pseudohypoparathyroidism* ; Tetany ; Visual Acuity

PURPOSE: To assess the efficacy of unilateral use of a blood reinfusion device in one-stage bilateral total knee arthroplasty (TKA). MATERIALS AND METHODS: We carried out a retrospective cohort study on 100 patients having one-stage bilateral TKA. In 50 of these patients (study group), a blood reinfusion device was applied on one knee and a standard suction drain on the other, and they were compared with 50 matched controls who received bilateral suction drains (control group). The hemoglobin (Hb) level, the hematocrit (Hct) and the platelet count were checked preoperatively, immediately postoperatively, and the third and seventh days postoperatively. The total drain output and the amount of allogeneic blood transfusion were also compared. RESULTS: There were no significant differences in the total drain output and required amount of allogeneic blood transfusions between groups (p>0.05). However, the study group had significantly lower Hb and Hct values by the first day postoperatively and significantly lower platelet count values by the third day postoperatively than the control group (p<0.05). CONCLUSIONS: Compared with use of bilateral suction drains, unilateral use of reinfusion device was not advantageous in reducing allogeneic transfusion in one-stage bilateral TKA.
Arthroplasty ; Blood Transfusion ; Cohort Studies ; Hematocrit ; Humans ; Knee ; Platelet Count ; Retrospective Studies ; Suction

OBJECTIVE: The purpose of this study was to differentiate true progression from pseudoprogression of glioblastomas treated with concurrent chemoradiotherapy (CCRT) with temozolomide (TMZ) by using histogram analysis of apparent diffusion coefficient (ADC) and normalized cerebral blood volume (nCBV) maps. MATERIALS AND METHODS: Twenty patients with histopathologically proven glioblastoma who had received CCRT with TMZ underwent perfusion-weighted imaging and diffusion-weighted imaging (b = 0, 1000 sec/mm2). The corresponding nCBV and ADC maps for the newly visible, entirely enhancing lesions were calculated after the completion of CCRT with TMZ. Two observers independently measured the histogram parameters of the nCBV and ADC maps. The histogram parameters between the true progression group (n = 10) and the pseudoprogression group (n = 10) were compared by use of an unpaired Student's t test and subsequent multivariable stepwise logistic regression analysis to determine the best predictors for the differential diagnosis between the two groups. Receiver operating characteristic analysis was employed to determine the best cutoff values for the histogram parameters that proved to be significant predictors for differentiating true progression from pseudoprogression. Intraclass correlation coefficient was used to determine the level of inter-observer reliability for the histogram parameters. RESULTS: The 5th percentile value (C5) of the cumulative ADC histograms was a significant predictor for the differential diagnosis between true progression and pseudoprogression (p = 0.044 for observer 1; p = 0.011 for observer 2). Optimal cutoff values of 892 x 10-6 mm2/sec for observer 1 and 907 x 10-6 mm2/sec for observer 2 could help differentiate between the two groups with a sensitivity of 90% and 80%, respectively, a specificity of 90% and 80%, respectively, and an area under the curve of 0.880 and 0.840, respectively. There was no other significant differentiating parameter on the nCBV histograms. Inter-observer reliability was excellent or good for all histogram parameters (intraclass correlation coefficient range: 0.70-0.99). CONCLUSION: The C5 of the cumulative ADC histogram can be a promising parameter for the differentiation of true progression from pseudoprogression of newly visible, entirely enhancing lesions after CCRT with TMZ for glioblastomas.
Adult ; Aged ; Brain Neoplasms/*pathology/physiopathology/therapy ; Cerebrovascular Circulation/*physiology ; Combined Modality Therapy ; Diagnosis, Differential ; Diffusion Magnetic Resonance Imaging/*methods ; Disease Progression ; Female ; Glioblastoma/*pathology/physiopathology/therapy ; Humans ; Male ; Middle Aged ; Prognosis ; ROC Curve ; *Regional Blood Flow ; Reproducibility of Results ; Retrospective Studies

PURPOSE: To evaluate the efficacy and safety of laparoscopic renal cryoablation (LRC) of small endophytic renal cell carcinoma, for which surgical treatment is technically difficult. MATERIALS AND METHODS: We enrolled patients with endophytic tumors from a prospectively collected database of 45 renal tumors in 39 patients who had undergone LRC from June 2005 to May 2009. An endophytic tumor was defined as less than 40% of the lesion extending off the surface of the kidney. We evaluated surgical and oncological outcomes. RESULTS: Among the treated tumors, 17 tumors (37.8%) were defined as endophytic tumors and 15 tumors from 14 patients were confirmed as renal cell carcinoma (RCC) in the pathologic examination of the tissue biopsy that was conducted at the time of LRC. The mean American Society of Anesthesiologists (ASA) score of the whole patient group was 2.9 (range, 1-4), and 85.7% (12/14) of the patients had an ASA physical status score over 3. The mean tumor size was 2.8 cm (range, 1.7-3.7 cm). The layout of the cryoprobe was carefully planned preoperatively on the basis of radiologic evaluation in all tumors. Multiple cryoprobes (mean, 3.2; range, 2-5) were used. No major complications, including open surgical conversion and nephrectomy due to bleeding, occurred. No patient experienced clinical symptoms of collecting system injuries. During the mean follow-up of 32.6 months (range, 12-51 months), radiologic evidence of tumor recurrence was found in one patient (6.7% for RCC). With the exception of this patient, all other patients have remained free of recurrence or metastasis, as determined by periodic radiologic workups. CONCLUSIONS: In this series of patients with intermediate-term follow-up, LRC for endophytic renal cell carcinoma showed acceptable oncological and surgical outcomes without sequelae in the collecting system.
Biopsy ; Carcinoma, Renal Cell ; Cryosurgery ; Follow-Up Studies ; Hemorrhage ; Humans ; Kidney ; Neoplasm Metastasis ; Nephrectomy ; Prospective Studies ; Recurrence

PURPOSE: Transurethral resection of the prostate (TURP) is the gold standard for the surgical treatment for benign prostatic hyperplasia (BPH), but the procedure's limitations are its invasiveness and the high prevalence of complications. Photoselective vaporization of the prostate (PVP) using an 80w high power potassium-titanyl-phosphate (KTP) laser has recently been developed as a less invasive treatment. We assessed the efficacy of PVP as an alternative to TURP for the treatment of BPH. MATERIALS AND METHODS: The medical records of 324 patients who were surgically treated for BPH from July 2005 to December 2007 were retrospectively reviewed. Among the 324 patients, 190 patients of Group I were treated by TURP and 134 patients of Group II were treated by PVP. Before treatment, assessing the serum PSA level transrectal ultrasound and urodynamic study were done. The primary efficacy parameters were the postoperative international prostatic symptom score and the uroflow parametersat 6 months after the operation. The secondary efficacy parameters were perioperative factors such as the duration of the hospital stay, the operative time and the catheter-indwelling period. Any adverse reactions were monitored. RESULTS: There was no significant difference in the basal characteristics of the study subjects between both the groups. The primary efficacy parameters, the IPSS, the Qmax and thepostvoid residual urine volume were significantly improved in both groups, but there were no significant differences between both the groups. In group II, the perioperative parameters such as the operation time, the hospitalization day and the catheter-indwelling periodwere significantly shorter than those of group I (p<0.05). But the urethral complications such as urethral stricture, dysuria and bladder neck contracture were more common in group II. CONCLUSIONS: These results suggest that PVP using an 80w high power KTP could be an alternative for TURP in terms of efficacy. For the general, safe use of PVP, PVP should be carefully done until the causes of the urethral complications of PVP are determined.
Contracture ; Dysuria ; Hospitalization ; Humans ; Laser Therapy ; Length of Stay ; Medical Records ; Neck ; Operative Time ; Prevalence ; Prostate ; Prostatic Hyperplasia ; Retrospective Studies ; Transurethral Resection of Prostate ; Urethral Stricture ; Urinary Bladder ; Urodynamics ; Volatilization

PURPOSE: The aim of this study was to evaluate the efficacy of a combination therapy with PDE5 inhibitor and testosterone replacement therapy in erectile dysfunction patients with testosterone deficiency syndrome (TDS) after failure of PDE5 inhibitor mono-therapy. MATERIALS AND METHODS: From March 2004 to July 2008, we evaluated 38 men (aged 38 to 69 years) who showed no response to PDE5 inhibitor therapy at the maximal recommended dose and they had testosterone levels less than 350ng/dL. Testosterone replacement therapy (TRT) was subsequently started with injectable testosterone undecanoate (NEBIDO(R)) or transdermal testosterone (Testogel(R)) in those patients. They received TRT during an 18-week period. After 14 weeks of TRT alone, PDE5 inhibitor was added to the TRT for an additional 4 weeks. After treatment, we evaluated the patients' sexual function, which was primarily based on the International Index of Erectile Function (IIEF), and the serum testosterone levels. RESULTS: All patients showed elevated serum testosterone levels after TRT (range: 212 to 662ng/dl, mean level: 362.19 ng/dl). At week 18, almost all of the men reported improved potency with combination therapy. After treatment, the mean total IIEF score and each sub-domain score were increased significantly compared to the baseline score. CONCLUSIONS: Testosterone replacement therapy combined with PDE5 inhibitor may be beneficial in improving the erectile function in testosterone deficiency syndrome patients with erectile dysfunction and who are unresponsive to PDE5 inhibitor alone.
Erectile Dysfunction ; Humans ; Hypogonadism ; Male ; Testosterone

BACKGROUND: Autosomal dominant polycystic kidney disease(ADPKD) is the most common hereditary renal disease in adults, and its major complaints include pain and abdominal fullness due to cyst expansion. So far, for the control of these symptoms, cyst ablation with ethanol or tetracycline, laparoscopic manipulations and surgical marsupialization have been used. METHODS: We used conventional ethanol(n=9) or n-butyl cyanoacrylate(NBCA) plus lipiodol solution (n=18) or both(n=3) for separate cysts as the sclerosing agent in 24 adult Korean ADPKD patients. And their clinical courses after treatment were evaluated. RESULTS: The male to female ratio was 8 : 16 and the mean age at the treatment was 50 yrs(S.D. 13.1). Causes for aspiration were pain in 14 and abdominal fullness in 7 patients and the range for the cyst diameters aspirated were 5-16 cm. Flank pain or discomfort were decreased subjectively in most cases except two. Mean arterial pressures(S.D.) (mmHg) before and after procedure were as follows 112(11.1)(basal), 96(9.6)(1 month) and 98(9.7)(6 month)(p < 0.05, paired-t test). Blood urea nitrogen levels(mg/dL) were not changed 6 month later[24 (12.1) vs. 22(14.6)]. There was no major complication such as bleeding or infection and no death and associated with procedure. There was no difference of therapeutic effect according to sclerosing agent. CONCLUSION: NBCA was as effective as conventional ethanol for sclerotherapy in ADPKD and cyst ablation therapy showed a BP-lowering effect in short-term period.
Adult ; Blood Urea Nitrogen ; Ethanol ; Ethiodized Oil ; Female ; Flank Pain ; Hemorrhage ; Humans ; Male ; Polycystic Kidney, Autosomal Dominant* ; Sclerotherapy* ; Tetracycline