Juvenile polyposis (JP) is characterized by the development of multiple hamartomatous polyps and is inherited as an autosomal dominant trait. Germline mutations of the SMAD4 gene have been reported in JP. We have previously identified three SMAD4 germline mutations in five Korean JP patients. Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations. In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high‐performance liquid chromatography (DHPLC) analysis. We found that one patient had a BMPR1A germline mutation without a SMAD4 mutation. This patient harbored a novel missense mutation (M470T) in exon 10. After close clinico‐pathological examination, one patient who was previously diagnosed to have JP was excluded from the JP group. In total, all four Korean JP patients had either the SMAD4 or the BMPR1A mutation, with three having SMAD4 germline mutations and one carrying a BMPR1A germline mutation.
Objective To investigate the prognostic value of metabolic tumour volume ( MTV ) and total lesion glycolysis ( TLG ), measured by preoperative positron emission tomography and computerised tomography ( PET / CT ), in women with endometrial cancer. Design Retrospective cohort study. Setting A tertiary referral centre. Population Women with endometrial cancer who underwent preoperative 18 F‐ FDG PET / CT in the period 2004–2009. Methods Clinicopathological data for 84 women with endometrial cancer were reviewed from medical records. Cox proportional hazards modelling identified recurrence predictors. The receiver operating characteristic ( ROC ) curve was used to determine the cut‐off value for predicting recurrence. Main outcome measure Disease‐free survival ( DFS ). Results The number of patients with International Federation of Gynecology and Obstetrics (FIGO) stages were: I (58); II (11); III (13); and IV (2). The median DFS was 48 (1–85) months. By univariate analysis, DFS was significantly associated with FIGO stage, histology, peritoneal cytology, myometrial invasion, nodal metastasis, serum CA‐125, MTV, and TLG. Using multivariate analysis, the MTV ( P = 0.010; hazard ratio, HR = 1.010; 95% confidence interval, 95% CI = 1.002–1.018) and TLG ( P = 0.024; HR = 1.001; 95% CI = 1.000–1.002) were associated with DFS. The area under the ROC curve was 0.679 (95% CI = 0.505–0.836) after discriminating for recurrence using an MTV cut‐off value of 17.15 ml. Regarding TLG, the cut‐off value was 56.43 g and the area under the ROC plot was 0.661 (95% CI = 0.501–0.827). Kaplan–Meier survival graphs demonstrated a significant difference in DFS between groups categorised using the cut‐off values for MTV and TLG ( P < 0.022 for MTV and P < 0.047 for TLG, by log‐rank test). Conclusions Preoperative MTV and TLG could be independent prognostic factors predicting the recurrence of endometrial cancer.
This paper examines whether there is a relationship between a common mutation in the methylenetetrahydrofolate reductase gene, MTHFR*val, and the risk of colorectal cancer, with or without lymph node metastases. MTHFR genotypes were ascertained from peripheral leukocyte samples obtained from 200 colorectal patients, including TMN stages I-VI, and from 460 healthy, unrelated adults without colorectal cancer, who served as controls. The frequency of homozygosity for the MTHFR*val/*val genotype among the colorectal cancer patients was lower (14.0%) than among controls (16.1%). The latter finding results in an estimated MTHFR*val allele frequency of 0.41. The MTHFR*val allele (677C > T) reduces colorectal risk slightly [odds ratio (OR), 0.87]. However, there was a significantly higher incidence of metastatic lymph nodes per case in MTHFR*val/*val patients, when compared with MTHFR*ala/*ala controls (6.9 ± 1.55 vs. 3.7 ± 0.57, p = 0.003). These results suggest that the MTHFR genotype might be of prognostic significance in colorectal carcinoma.
Please cite this paper as: Kim J‐H, Park J‐Y, Kim D‐Y, Kim Y‐M, Kim Y‐T, Nam J‐H. Fertility‐sparing laparoscopic radical trachelectomy for young women with early stage cervical cancer. BJOG 2010;117:340–347. Objective To report the results of laparoscopic radical trachelectomy (LRT) with respect to surgical, oncological and reproductive outcomes. Design Retrospective analysis. Setting University of Ulsan College of Medicine, Asan Medical Centre, Seoul, Korea. Sample Thirty‐two consecutive patients who wish to preserve fertility with early stage cervical cancer. Methods Demographic, clinicopathologic, surgical, and follow‐up data were obtained from patients’ medical records. All patients agreed to telephone interviews to assess their menstrual and obstetrical outcomes. Main outcome measures Surgical parameters, perioperative complication, disease‐free survival, overall survival, return and pattern of menstruation and pregnancy rate. Results Thirty‐two consecutive patients who wish to preserve fertility with early stage cervical cancer were offered LRT. In five patients, the planned LRT procedures were abandoned during the operations because of lymph node metastasis or parametrial involvement on frozen section. The mean age was 29 years (range, 22–37 years). The mean tumour size was 1.7 cm in diameter (range, 0.4–3.5 cm). The mean operating time was 290 min (range, 120–520 min) and the mean estimated blood loss was 332 ml (range, 50–1000 ml). Perioperative transfusion was required in six patients. There were no perioperative complications requiring further management. After a median follow‐up time of 31 months (range, 1–58 months), there was one recurrence and death from disease. Regular menstruation returned in 24 patients. Six patients attempted to conceive, and three succeeded. Conclusions Laparoscopic radical trachelectomy may be a safe and useful alternative to radical hysterectomy for women with early cervical cancer who want to preserve their fertility.
Objective To re‐evaluate the utility of the conventional criteria for clinical chorioamnionitis in the prediction of early‐onset neonatal sepsis ( EONS ) in preterm birth. Design Retrospective cohort study. Setting Seoul, Republic of Korea. Sample A total of 1468 singleton births between 24 and 34 weeks due to preterm labour ( n = 713) or preterm prelabour rupture of membranes ( n = 755). Method We evaluated three diagnostic categories of clinical chorioamnionitis: Criteria 1, conventional criteria; Criteria 2, combination of any three conventional parameters without prerequisite fever; Criteria 3, Criteria 1 plus positive maternal C‐reactive protein and neutrophil left‐shift into minor criteria. EONS included proven or suspected sepsis within 7 days following birth. Neonatal morbidity and mortality of EONS were also reviewed. Main outcome measures Diagnostic performance of three combinations. Results The prevalence of EONS was 13.8%. Among 203 cases of EONS , maternal manifestation of clinical chorioamnionitis by criteria 1 was evident in only one out of seven, indicating 15.3% sensitivity for EONS prediction. However, with application of criteria 2, sensitivity significantly increased to 34.0%, while compromising specificity from 92.3% to 78.7%. Criteria 3 showed similar diagnostic performance compared with criteria 1 (sensitivity 16.7%, specificity 91.6%). Overall, neonatal mortality and neonatal composite morbidity in EONS were 14.9% and 67.8%, respectively, and there was no difference in neonatal morbidity and mortality between neonates whose mothers showed fever as a sign of clinical chorioamnionitis and those whose mothers did not. Conclusion The renouncement of fever as a prerequisite for the criteria of clinical chorioamnionitis could increase sensitivity for the identification of EONS , a serious outcome of preterm birth. Tweetable abstract The renouncement of fever as an essential can increase sensitivity for prediction of neonatal sepsis.
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