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Objective: To evaluate the utility of trio-based prenatal exome sequencing (pES), incorporating splice-site and mitochondrial genome assessment, in the prenatal diagnosis of fetuses with ultrasound anomalies and normal copy-number variant sequencing (CNV-seq) results.Methods: This was a prospective study of 90 ongoing pregnancies with ultrasound anomalies that underwent trio-based pES after receiving normal CNV-seq results, from September 2020 to November 2021, in a single center in China. By using pES with a panel encompassing exome coding and splicing regions as well as mitochondrial genome for fetuses and parents, we identified the underlying genetic causes of fetal anomalies, incidental fetal findings and parental carrier status. Information on pregnancy outcome and the impact of pES findings on parental decision-making was collected.Results: Of the 90 pregnancies included, 28 (31.1%) received a diagnostic result that could explain the fetal ultrasound anomalies. The highest diagnostic yield was noted for brain abnormalities (3/6 (50.0%)), followed by hydrops (4/9 (44.4%)) and skeletal abnormalities (13/34 (38.2%)). Collectively, 34 variants of 20 genes were detected in the 28 diagnosed cases, with 55.9% (19/34) occurring de novo. Variants of uncertain significance (VUS) associated with fetal phenotypes were detected in six (6.7%) fetuses. Interestingly, fetal (n = 4) and parental (n = 3) incidental findings (IFs) were detected in seven (7.8%) cases. These included two fetuses carrying a de-novo likely pathogenic (LP) variant of the CIC and FBXO11 genes, respectively, associated with neurodevelopmental disorders, and one fetus with a LP variant in a mitochondrial gene. The remaining fetus presented with unilateral renal dysplasia and was incidentally found to carry a pathogenic PKD1 gene variant resulting in adult-onset polycystic kidney, which was later confirmed to be inherited from the mother. In addition, parental heterozygous variants associated with autosomal recessive diseases were detected in three families, including one with additional fetal diagnostic findings. Diagnostic results or fetal IFs contributed to parental decision-making about termination of the pregnancy in 26 families (26/72 (36.1%)), while negative pES results or identification of VUS encouraged 40 families (40/72 (55.6%)) to continue their pregnancy, which ended in a live birth in all cases.Conclusion: Trio-based pES can provide additional genetic information for pregnancies with fetal ultrasound anomalies without a CNV-seq diagnosis. The incidental findings and parental carrier status reported by trio-based pES with splice-site and mitochondrial genome analysis extend its clinical application, but careful genetic counseling is warranted. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU) patients with strong indications of Mendelian etiology. However, such applications' diagnostic yield and utility remain unclear for NICU cohorts with minimal phenotype selection. In this study, focused medical exome sequencing was used as a first‐tier, singleton‐focused diagnostic tool for 2303 unrelated sick neonates. Integrated analysis of single nucleotide variants (SNVs), small insertions and deletions (Indels), and large copy number variants (CNVs) was performed. The diagnostic rate in this NICU cohort is 12.3% (284/2303), with 190 probands with molecular diagnoses made from SNV/Indel analyses (66.9%), 93 patients with diagnostic aneuploidy/CNVs findings (32.8%), and 1 patient with both SNV and CNV (0.4%). In addition, 54 (2.3%) of patients had a reportable incidental finding. Multiple organ involvements, craniofacial abnormalities, and dermatologic abnormalities were the strongest positive predictors for a molecular diagnosis. Among the 190 cases with SNV/Indel defects, direct impacts on medical management were observed in 46.8% of patients after the results were reported. In this study, we demonstrate that focused medical exome sequencing is a powerful first‐line diagnostic tool for NICU patients. Significant number of diagnosed NICU patients can benefit from more focused medical management and long‐term care. [ABSTRACT FROM AUTHOR]

The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.

Competing Interests: The authors declare that they have no conflict of interest.

Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from chromosome 9p. Amniocentesis was performed and sent for chromosomal microarray, which was normal. Maternal karyotype revealed that mos 47,XX,+dic(9;9)(q21.1;q21.1)(24)/46,XX(9) presents mosaic tetrasomy for the short arm of chromosome 9p and is related to the NIPT results showing elevation in DNA from chromosome 9p. The pregnancy was uneventful, and the patient was delivered at term. Maternal samples were obtained at two different time points after delivery showed the same multiple chromosomal aberrations detected during pregnancy. This is a first report on an unusual case of mosaic isodicentric tetrasomy 9p in a healthy adult with normal intellect. With widespread adoption of NIPT for screening fetal aneuploidy and genome-wide copy number changes, a rise in incidental detection of maternal rare genetic syndrome will bring challenges in our current approach to genetic counselling and prenatal diagnosis.

Objectives: A trial-based comparison of the use of resources, costs and health utility outcomes of fine-needle aspiration cytology (FNAC), and watchful observation for incidental small (< 2 cm) thyroid nodules was performed using data from the randomized controlled trial (RCT)., Methods: Using data from 314 patients, healthcare-related use of resources, costs, health utility, and quality-adjusted life years (QALYs) were estimated at 12 months after first presentation of incidental thyroid nodule(s) on an intention-to-treat basis with adjustment for covariates. Uncertainty about the incremental cost-effectiveness ratio for FNAC versus watchful management at 12 months of follow-up was incorporated using bootstrapping. Multiple imputation methods were used to deal with missing data., Results: FNAC management was associated with greater use of healthcare resources and mean direct healthcare costs per patient (US$542.47 vs US$411.55). Lower mean 12-month QALYs per patient in FNAC was observed in comparison to watchful observation (0.752 versus 0.758). The probability that FNAC management was cost-effective compared with watchful management at a willingness-to-pay threshold of US50,000 per QALY gained was 26.5%., Conclusion: Based on 12-month data from RCT, watchful observation appeared cost-saving compared to FNAC in patients with incidental thyroid nodules that have a low-suspicion sonographic pattern and measure between 1.0 and 2.0 cm from healthcare provider perspective. CLINICALTRIALS., Gov Identifier: NCT02398721.

Objective: Lung cancer is traditionally more prevalent in the elderly patients, men, and smokers. However, as low-dose computed tomography (LDCT) is increasingly popular, we hypothesized the disease spectrum might change., Methods: LDCT was performed as a part of regular health examinations in 8392 of 15,686 employees from 6 hospitals in different regions of China in 2012 to 2018. Clinicopathologic characteristics, including age, sex, smoking status, radiologic features, tumor histology, and pathologic stage, were retrospectively analyzed., Results: LDCT incidentally detected lung cancer (pathologically confirmed) in a total of 179 (2.1%) hospital employees. The lung cancer detection rate was significantly greater in female than male (2.5% vs 1.3%, P = .001) patients. There was also a greater detection rate among nonsmokers than smokers, although statistical significance was not reached (2.2% vs 1.4%, P = .092). The lung cancer detection rate was 1.0% in the "age ≤40 years" group, 2.6% in the "40 < age ≤55 years" group, and 2.9% in the "age >55 years" group (P < .001). Among the hospital employees with lung cancer, 171 (95.5%) presented as ground-glass opacity, 177 (98.9%) were lung adenocarcinoma, 170 (95.0%) were early stage 0/IA, and 177 (98.9%) received curative surgical resection as the initial treatment. After a median follow-up of 38 months, no disease recurrence or death was observed among these patients., Conclusions: LDCT detected lung cancer in a significant proportion of young, female, and nonsmoking employees. The vast majority of these lung cancers were early stage, with extremely good prognosis., (Copyright © 2019 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)

Incidental gallbladder cancer(IGBC) originated in the West more than half a century ago.IGBC was translated and introduced into China afterwards with widespread clinical application.With the popularization of laparoscopic cholecystectomy, the trend of "abuse" of IGBC has become increasingly apparent worldwide.Many advanced gallbladder cancers have been categorized as IGBC which actually become the synonym of "missed diagnosis" . From the point of the pathology, the diagnosis of IGBC may cause delays in treatment and adversely affect the patient's prognosis.For country like China with relatively high incidences of chronic cholecystitis, cholelithiasis, and gallbladder cancer, the concept of IGBC, however, is no longer applicable to our diagnosis treat model.For improving the prognosis of gallbladder patients, it is necessary to update and rename the concept of IGBC and more attention should be paid to improve the diagnostic level of early stage tumor.

Objectives: To assess anxiety and depression in patients with incidental pulmonary nodules and analyze the related impact factors., Methods: All patients were assessed by questionnaires for their anxiety and depression after incidentally found pulmonary nodules. Hospital anxiety and depression scale (HAD), generalized anxiety disorder scale-7 (GAD-7), and multidimensional scale of perceived social support (MSPSS) were used to evaluate their anxiety and depression in order to understand the basic information and social support, and to analyze the related factors., Results: The HAD scale was used in 201 patients with pulmonary nodules. Univariate analysis showed the frequency of visits and social support had significant effects on anxiety (χ 2 = 9.604, 20.912, P < 0.05). Regression analysis showed that social support (OR = 4.042, 95% CI: 2.1617.558, P < 0.05) was an independent influencing factor of anxiety. Univariate analysis showed that marital status, exposure history and social support had significant effects on depression (χ 2 = 10.626, 6.005, 3.984, P < 0.05). Regression analysis showed that marital status (OR = 0.375, 95% CI: 0.186-0.754, P < 0.05) and social support (OR = 2.206, 95% CI: 1.016-4.789, P < 0.05) were independent influencing factors of depression. The results of GAD-7 showed the incidence of anxiety in patients with pulmonary nodules was 59.3% (108/182). Univariate analysis showed that anxiety was correlated with a history of chronic disease, psychological disease and social support (χ 2 = 9.949, 8.356, 11.872, P < 0.05). Further regression analysis showed that a previous history of psychological disease (OR = 5.088, 95% CI: 1.804-14.339) and social support (OR = 2.768, 95% CI: 1.505-5.094), were independent influencing factors of anxiety., Conclusions: The results of the study concluded that anxiety was affected by social support and previous psychological factors, while depression was affected by marital status and social support. Doctors should therefore strengthen communication with patients, and alleviate the negative emotions of patients as far as possible., (© 2020 The Authors. Thoracic Cancer published by China Lung Oncology Group and John Wiley & Sons Australia, Ltd.)

Background: The goal was to study the role of serum IgA in patients with IgA nephropathy (IgAN) found during physical examination, and to explore its value in diagnosis, assessment of pathological injury, and clinical prediction of IgAN., Methods: The study included 457 patients who were hospitalized between January 2010 and June 2018 due to physical abnormalities and diagnosed with kidney disease via renal biopsy. Renal histopathology was quantified according to Katafuchi semi-quantitative standards, while the IgAN patients were also scored according to Lee's grading system., Results: The average age of the 457 patients was 39.62 ± 13.52 years when abnormalities were found during physical examination. IgAN (202 cases, 46.12%) was the most common type of primary glomerulonephritis in the 457 patients. Of the IgAN patients, 75.25% (152 cases) were under 45 years old at the time of abnormal physical examination and IgAN patients were significantly younger than non-IgAN patients. There was a significant difference in the gender ratio between IgAN patients and non-IgAN patients (χ2 = 4.24, p = 0.039). In IgAN patients, the proportion of male patients, serum creatinine (SCr), the glomerular lesion and tubulointerstitial scores, and serum IgA were statistically higher than in non-IgAN patients with other types of primary glomerulonephritis; however, MDRD-GFR was lower. The ROC curve of serum IgA in the diagnosis of IgAN showed the AUC was 0.602. One hundred forty-seven cases (72.77%) were Lee's III - V grade. The proportion of patients who were at Lee's III - V grades in the normal serum IgA group (184 cases) was higher than that of the elevated serum IgA group (18 cases). There were no significant differences in gross hematuria, proteinuria, MDRD-GFR, SCr, and hypertension between the two groups., Conclusions: Serum IgA may be of little value in the diagnosis of patients with IgA nephropathy detected via physical examination. The level of serum IgA may have predictive value in evaluating Lee's pathological damage in IgAN patients.

Background and Aim: Incidental pancreatic cystic lesions (PCLs) are being diagnosed more frequently. However, little is known about the prevalence of PCLs in the Chinese population. The aim of the study was to assess the crude prevalence of PCLs in individuals who underwent magnetic resonance imaging (MRI)., Methods: Data from consecutive patients who underwent MRI without pancreatic indications were included. MRI images were reviewed for the presence of pancreatic cysts. The prevalence of PCLs and high-risk PCLs in different gender and age groups was calculated. To assess the crude prevalence, the prevalence and demographic data were standardized on the basis of Chinese national population data in 2017., Results: A total of 10 987 individuals were included (7344 men). Incidental PCLs were identified in 212 individual (128 men). The prevalence of PCLs was 1.93%, and PCLs were more often discovered in women (1.74% vs 2.31%, P = 0.043). Prevalence increased with age (r = 0.804, P < 0.001). The prevalence of high-risk PCLs was 0.12% (n = 13). Gender predominance and age distribution showed no difference between high-risk PCLs and low-risk PCLs (P = 0.234 and P = 0.855), but cysts located in the pancreatic head were more likely to develop into high-risk PCLs (P = 0.001). After data standardization, the crude prevalence of PCLs was 1.31%, and PCLs were more often discovered in women (1.11% vs 1.5%, P < 0.001). The crude prevalence of high-risk PCLs was 0.07%., Conclusion: Pancreatic cystic lesions in the Chinese population are not rare. The prevalence of PCLs increased with age and is higher in the female population. The prevalence of high-risk PCLs should not be ignored., (© 2019 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)

Incidental detection of lymphoma in lymph node (LN) dissection for carcinoma is extremely rare. The occurrence and clinicopathological features of this rare condition have not been characterised. The medical records of 11,889 consecutive patients who underwent LN dissection for carcinoma in the abdominopelvic cavity were retrospectively reviewed. Among these patients, 11 had lymphomas detected in LN dissections and 7 had no previous history of lymphoma, representing an incidental detection rate of 0.06% (7/11889). The patients had a median age of 63 years (range, 48-69 years), and the male-to-female ratio was 1:2.5. The sites and histological types of the carcinoma were as follows: adenocarcinoma of the sigmoid colon (2 cases), endometrioid adenocarcinoma of the endometrium (2 cases), squamous carcinoma of the uterine cervix (1 case), adenocarcinoma of the stomach (1 case), and adenocarcinoma of the rectum (1 case). All incidental lymphoma cases (100%, 7/7) were low-grade B cell non-Hodgkin lymphoma (B-NHL), including 5 cases of follicular lymphoma (grades 1-2) and 2 cases of small lymphocytic lymphoma. The median follow-up interval was 39 months (5-65 months). All the patients were alive at the end of the follow-up period. Low-grade B-NHL can be incidentally detected during LN dissection for carcinoma in the abdominopelvic cavity. The subtype of incidental lymphoma is likely related to the epidemiology of lymphoma classes in the corresponding area. We should be aware of simultaneous occurrence of incidental lymphoma during lymphadenectomy for carcinoma.

Background: The purpose was to investigate the difference of detection rate of incidental pancreatic cystic lesions (PCLs) with computed tomography (CT) and magnetic resonance imaging (MRI) and to compare the difference between CT and MRI and to explore the effect of this difference on surgical resection., Methods: We reviewed the diagnostic reports for incidental PCLs between 2013 and 2016. Images of PCLs would be re-evaluated. Clinical and imaging data were recorded. The chi-square and independent t-test were conducted for categorical and continuous variables., Results: The prevalence of PCLs was 1.91% (1038/54210) and 3.36% (1282/38099) on CT and MRI respectively, and increased with increasing age (P < 0.001). No significant differences were found in the annual prevalence of PCLs on CT (P = 0.796) and MRI (P = 0.213) from 2013 to 2016 while the number of examinations was increasing every year. The annual detection rate of MRI for small PCLs (< 20 mm) was significantly higher than CT (P < 0.001), but was not significantly different for large PCLs (≥20 mm). The rate of surgical resection of PCLs (≥20 mm) in MRI group was higher than CT (55.2% vs. 37.0%, P < 0.001)., Conclusions: The detection rate of PCLs on CT and MRI tended to be stable despite increasing scan volumes. Female had a slightly more frequency of PCLs than male. MRI detected more small PCLs(< 20 mm) and had higher impact on surgical resection of large PCL(≥20 mm) compared with CT.

Objective: To investigate the rationale for appropriate diagnostic methods and treatment protocols for unexpected gallbladder carcinoma(UGC). Methods: The clinical and pathological data of 45 patients with UGC admitted at Department of General Surgery, Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine,from January 2008 to December 2017 were retrospectively collected and analyzed.There were 11 males(28.9%) and 34 females(71.1%),aged 68 years(range:27 to 68 years).And there were 20 cases who aged above 70 years. Twenty-four cases were diagnosed preoperatively as cholecystolithiasis plus chronic cholecystitis.Ten cases were diagnosed preoperatively as cholecystolithiasis plus actue cholecystitis.Six cases were diagnosed preoperatively as cholecystolithiasis plus choledocholith.Six cases were admitted because of gallbladder polyp and 1 case was admitted because of gallbladder adenomyomatosis. Results: Thirty-four patients with UGC received radical surgery.Among them,11 patients experienced postoperative complication and no posterative mortality occoured during hospital stay.Thirteen patients were diagnosed with T1b UGC, the harvested lymph node of Nx, N0, N1 and N2 was 2, 9, 1 and 1, respectively.In addition, 2 cases were identified to have local-regional tumor recurrence during our rescue radical surgery.The median overall survival time of the patients who did not receive radical surgery was 7 months(range:2-56 months).Nevertheless,the median overall survival time for patients diagnosed with T1, T2 and T3 tumors who received radical surgery, was 41 months(range: 19-82 months), 33.5 months(range: 31-36 months) and 17 months(range: 7-46 months), respectively. Conclusions: For patients with UGC, rescue radical surgery can achieve a better survival time.Furhtermore, our experience proved that rescue radical surgery for UGC is safe and feasible.Therefore,rescue radical surgery should be performed in patients with diagnose with UGC especially those T1b patients.

Background: Pregnancy with an adnexal mass is one of the most common complications during pregnancy and clinicians are sometimes caught in a dilemma concerning the decision to be made regarding clinical management., Objectives: The objective of this study was to outline and discuss the clinical features, management and outcomes of adnexal masses that were encountered during a cesarean section (CS) at a university affiliated hospital in China., Material and Methods: The medical records of the patients with an adnexal mass observed during a CS were retrospectively collected at Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China, from January 1991 to December 2011., Results: The incidence of adnexal masses was 16.40 per 1000 CSs. The most common pathologic diagnosis was benign ovarian tumor, the 2nd was ovarian endometrioma and the 3rd was theca lutein cyst. Thirteen cases of ovarian malignancies were diagnosed during a CS. Only 388 cases (29.78%) were detected by an ultrasonography (USG) examination before a CS. Eight cases required emergency CS due to abdominal pain; all other patients were clinically asymptomatic. The reasons for abdominal pain included torsion (n = 5), rupture (n = 2) and ovarian enlargement (n = 1). In 13 cases with ovarian endometrioma, cysts ruptured during a CS without any clinical manifestation. No maternal and fetal complications related to surgery were observed., Conclusions: Preconception care and routine prenatal care, including USG examination, may optimize the detection and management of an adnexal mass. The presumptive ovarian endometrioma detected before pregnancy could be the indication for surgery due to the possibility of spontaneous hemoperitoneum. Theca lutein cysts might be huge and exist throughout the whole pregnancy period. Expectant management is reasonable for an adnexal mass that emerged during pregnancy without suspicion of malignancy. Abdominal pain might be a clue for cyst torsion or rupture.

Background: Previous studies report a low prevalence of incidental prostate cancer in Chinese patients (3-7%). We evaluated incidental prostatic adenocarcinoma (PCa) and urothelial carcinoma (UCa) involvement of the prostate in cystoprostatectomy specimens., Methods: We analyzed 340 cystoprostatectomy specimens from patients who underwent radical cystoprostatectomy for the treatment of bladder cancer in China from 2004 to 2014. None of the patients had known prostate cancer prior to cystoprostatectomy., Results: Overall, 180 (53%) patients had either PCa or UCa in the prostate. We found that 95 (28%) had PCa and 115 (34%) had UCa involvement of prostate. The rate of incidental prostate cancer was 21% and 31%, respectively, from two study periods (2004-2008 and 2009-2014). Among the 95 patients with PCa, 19 (20%) had Gleason score of ≥7, nine (10%) had PCa tumor volume >0.5 cc, and eight (8.4%) had extracapsular extension. Of the 115 with prostatic UCa, 61 had prostatic urethra and/or periurethral prostatic duct involvement only, while 54 had prostatic stromal invasion. Age (odds ratio [OR] = 1.04, P = 0.001), increasing stage of bladder tumor (OR = 1.28, P = 0.005), multifocal tumors of bladder (OR = 3.22, P < 0.001), carcinoma in situ (CIS) in the bladder (OR = 5.52, P < 0.001), and bladder neck involvement (OR = 6.12, P < 0.001) were strongly associated with prostatic UCa., Conclusions: The rate of incidental PCa in cystoprostatectomy specimens in China has increased over the last decade. Patients with advanced age, elevated serum PSA level, advanced bladder tumor stage, multifocal bladder tumors, CIS in the bladder, and tumor location at the bladder neck should be excluded as candidates for prostate-sparing cystectomy., (© 2015 Wiley Periodicals, Inc.)

Background: At the time of diagnosis, most patients with gallbladder cancer are in advanced stage and the cancer is unresectable. Long-term survivors are usually seen in a small number of patients with incidental gallbladder cancer. This study aimed to identify preoperative predictors of incidental gallbladder cancer in elderly patients., Methods: A total of 4014 patients of more than 44 years old who had undergone cholecystectomy at our department from January 2000 to December 2010 were retrospectively reviewed. Univariate and multivariate modalities were used to identify the predictive factors of incidental gallbladder cancer., Results: Twenty-nine of the 4014 patients who had undergone cholecystectomy for benign gallbladder diseases were histologically diagnosed as having incidental gallbladder cancer. Multivariate analysis identified that elevated carbohydrate antigen 19-9 combined with carcinoembryonic antigen and/or carbohydrate antigen 125 (P=0.045), a gallbladder polyp greater than or equal to 1.2 cm (P=0.043) and focal gallbladder wall thickening of more than or equal to 5 mm (P=0.002) were predictive factors of incidental gallbladder cancer., Conclusion: Cholecystectomy is suggested for patients with these predictive factors and intraoperative frozen section should be considered to rule out carcinoma.

OBJECTIVE. To report a series of patients with Paget's disease of bone that is rarely diagnosed in the Chinese, and to describe their presentations and clinical characteristics. DESIGN. A retrospective case series and literature review. SETTING. A regional public hospital in Hong Kong. PATIENTS. Patients with a diagnosis of Paget's disease of bone (or osteitis deformans) documented in the Clinical Management System of the Hospital Authority and being followed up in the medical endocrine clinic of the Pamela Youde Nethersole Eastern Hospital were identified in July 2011. This was performed using the Clinical Data Analysis and Reporting System of the Hospital Authority. Corresponding case notes and radiological imaging data were retrieved and reviewed. Patients with diagnostic X-ray or computed tomography findings of Paget's disease of bone were included in this series. The demographic data, clinical features, and investigation results of the cases were retrieved, recorded, and analysed. RESULTS. Seven Chinese patients (5 men and 2 women; mean age, 66 years) diagnosed to have Paget's disease of bone from 2000 to 2010 were identified. All but one were asymptomatic and presented as an incidental finding (isolated raised serum alkaline phosphatase level or abnormal X-ray). The most commonly involved sites were the skull and pelvis. The majority (71%) of the patients had polyostotic disease. During follow-up, there were no disease-related complications, nor was malignant transformation identified. None reported positive family history. CONCLUSION. In this series of seven Chinese patients with Paget's disease, most were asymptomatic and presented with an isolated raised serum alkaline phosphatase level during routine testing. The disease was predominantly found in males and the elderly, and commonly involved the skull and pelvis.

Objective: To investigate the prevalence and risk of thyroid incidentaloma identified by positron emission tomography/computed tomography (PET/CT)., Study Design: Historical cohort study., Setting: Fudan University Shanghai Cancer Center., Methods: A total of 15 948 non-thyroid disease patients who underwent fluorine-18 fluorodeoxyglucose (18F-FDG) PET/CT from November 2006 to September 2010 were included. They were divided into two groups: 12 080 patients for metastatic evaluation and 3868 patients for cancer screening. When thyroid incidentaloma was found, further diagnostic examination was conducted., Main Outcome Measures: Prevalence and risk of thyroid incidentaloma., Results: The prevalence of incidental thyroid 18F-FDG uptake was approximately 2.5% (395 of 15 948). The prevalence of incidentaloma in healthy subjects (118 of 3868; 3.1%) was statistically higher than that in patients with suspected or known cancer (277 of 12 080; 2.3%) (p < .05). Among 395 incidentalomas, 146 patients had further examinations (53 patients with histologic confirmations, 93 patients with clinical monitoring). Finally, 43 lesions were confirmed to be malignancies. Therefore, the cancer risk was 29.5% (43 of 146), and it was higher in cancer screening patients (24 of 59; 40.7%) than in alleged cancer patients (19 of 87; 21.8%) (p < .05). As for FDG uptake pattern, the prevalence of thyroid cancer was 11.6% (5 of 43) and 36.9% (38 of 103) in the group of patients with diffuse and focal uptake, respectively (p < .05). After logistic regression analysis, age, sex, maximal standardized uptake value, and calcification were the potent predictors of differentiation., Conclusion: The presence of focal uptake with high SUVmax and calcification detected on CT images correlates with a high likelihood of thyroid malignancy. When a focal thyroid incidentaloma is detected, further examination should be performed.

Paget's bone disease is quite common in some parts of Europe and countries inhabited by European emigrants, but it is rare in Asia. There have been only 13 reported cases in Southeast Asia, including one reported case from Thailand. Half of the previously reported cases had bone symptoms and the other half were asymptomatic, but were incidentally discovered when patients were being investigated for other medical problems. Here are reported cases of four asymptomatic patients who presented elevation of serum alkaline phosphatase during routine annual medical checkups. All patients were of Chinese descent and all cases were proven by biopsy. Based on this experience, we are of the opinion that a substantial number of unrecognized cases of Paget's disease exist among ethnic Thais. We feel that they would be revealed if clinicians were alerted of its presence and if they included it as a possible diagnosis together with metastasis and osteoporosis when examining bone lesions or when results for elevated serum alkaline phosphatase are detected during routine checkups. We also anticipate that a higher prevalence of this disease may occur in future Thai generations due to the addition of offspring from Asian-European intermarriages to offspring of Chinese descent in the ethnic Thai population.

Objectives: Benign adrenal schwannoma is an extremely uncommon cause of incidentaloma. This article describes our experience with the diagnosis and treatment of adrenal schwannoma in a Chinese population of 6 patients. To our knowledge, this is the largest series of this uncommon adrenal tumor treated in a single center., Methods: From May 1999 to May 2009, 6 patients with incidentally discovered adrenal schwannoma were operated on at a tertiary referral hospital in Eastern China. Clinical details, radiographic features, laboratory examinations, pathological findings, and follow-up data of these patients were analyzed., Results: Of the 6 patients, 4 were females (F) and 2 were males (M), with a mean age of 40.5 yr (range: 30-47, M:F=2:1). The 6 patients were managed with open unilateral adrenalectomy; 5 patients had schwannomas on the left side, and 1 on right side. Abnormal urine catecholamine was detected in 1 patient. The mean pathological size of these tumors was 4.3 ± 1.1 cm. The diagnosis of schwannoma was based on classic histological findings, and supported by immunohistochemistry of S-100, vimentin, and ABC positivity. In the follow- up of 47.5 ± 32.3 months, no recurrence and metastasis were observed., Conclusions: Although there may be some clues for radiological diagnosis of adrenal schwannoma, preoperative misdiagnosis is not infrequent. Those tumors may occasionally have endocrine function. Histological examination is the key of diagnosis, and surgical resection is the treatment of choice once malignancy cannot be excluded by preoperative analyses.

Introduction: To describe and analyze the clinicopathologic characteristics of ovarian malignancies discovered at cesarean section (CS)., Methods: A retrospective study based on clinical histories from 13 patients diagnosed concurrently with CS at our hospital from January 1991 to December 2008., Results: The incidence of ovarian malignancies diagnosed during CS was 0.21 in 1000 CS. Histopathologic categories included malignant germ cell tumor (2, 15.38%), invasive epithelial carcinoma (3, 23.08%) and low-malignant potential tumor (8, 61.54%). All patients were clinically asymptomatic and diagnosed in stage I. Ovarian masses were detected by ultrasound in only 5 patients before surgery, but no malignancy was indicated. Tumor sizes ranged from 2.5 to 30 cm. Six malignancies were diagnosed by paraffin section after surgery, and of these, 2 patients received second surgery for tumor staging. Conservative surgical treatment was performed on 12 patients. Three patients received adjuvant chemotherapy. All patients are currently in complete remission. No maternal and fetal complication related to surgery was observed., Conclusions: Ultrasound in the first trimester is recommended to rule out the adnexal mass. Frozen section is indicated for any suspicion. Conservative therapy could be applied to most patients with good prognosis if the patient was chosen carefully.

The purpose of this study is to investigate the frequency of prostate cancer (Pca) discovered incidentally in radical cystoprostatectomy specimens in Asia and to determine the feasibility of prostate-sparing cystectomy (PSC) for Asian patients. Ninety-two male bladder cancer patients who underwent radical cystoprostatectomy at our center between January 2003 and January 2008 were included in this study. The mean age of patients was 67.1 years (range: 32-75 years). Prostate-specific antigen (PSA) levels and digital rectal examination (DRE) results before surgery were obtained retrospectively. Prostates of all patients were embedded and sectioned at 5-mm intervals. The same pathologist examined the prostatic tissues from radical cystoprostatectomy specimens. Finally, a structured literature review was performed using MEDLINE and PUBMED to estimate the occurrence of incidental Pca in Asia. Of the 92 patients, 3 (3.3%) were found to have Pca; in one out of three (33.3%) patients the disease was clinically significant due to a Gleason grade 4 carcinoma. Eight articles were included in our review. The overall incidence of Pca discovered incidentally in radical cystoprostatectomy specimens in Asia was 9.9% (64/642). When age was restricted to < 60 years, only 7 out of 222 (3.2%) patients were found to have synchronous Pca, and none of the cases was clinically significant. The occurrence of Pca in radical cystoprostatectomy specimens in Asia is much lower than that in Western countries. PSC might be feasible for Asian patients under a strict preoperative selection.

Aim: To investigate the rates of prostate cancer (PCa) in radical cystoprostatectomy (RCP) specimens for bladder cancer in mainland China. To determine the follow-up outcome of patients with two concurrent cancers and identify whether prostate-specific antigen (PSA) is a useful tool for the detection of PCa prior to surgery., Methods: From January 2002 to January 2007, 264 male patients with bladder cancer underwent RCP at our center. All patients underwent digital rectal examination (DRE) and B ultrasound. Serum PSA levels were tested in 168 patients. None of the patients had any evidence of PCa before RCP. Entire prostates were embedded and sectioned at 5 mm intervals., Results: Incidental PCa was observed in 37 of 264 (14.0%) RCP specimens. Of these, 12 (32.4%) were clinically significant according to an accepted definition. The PSA levels were not significantly different between patients with PCa and those without PCa, nor between patients with significant PCa and those with insignificant PCa. Thirty-four patients with incidental PCa were followed up. During a mean follow-up period of 26 months, two patients with PSA > 4 ng/mL underwent castration. None of the patients died of PCa., Conclusion: The incidence of PCa in RCP specimens in mainland China is lower than that in most developed countries. PSA cannot identify asymptomatic PCa prior to RCP. In line with published reports, incidental PCa does not impact the prognosis of bladder cancer patients undergoing RCP., ((c) 2008, Asian Journal of Andrology, SIMM and SJTU. All rights reserved.)