Objective To investigate the safety and effectiveness of open radical prostatectomy (ORP) for locally advanced prostate cancer (LAPC).Methods From January 2012 to April 2017,132 cases underwent ORP were included.The mean age was 65.1 years old (ranged 41 to 83 years old),median PSA was 28.9 ng/ml (ranged 1.2 to 319.7 ng/ml) and mean Glcason score was 8.0(ranged 6.0 to 10.0).The number of clinical stage T3aN0,T3bN0,T4N0 and T1 ～4N1 were 92 cases(69.7％),20 cases (15.2％),8 cases (6.1％) and 12 cases (9.0％),respectively.Results The median length of hospital day,mean operative time and median blood loss were 9 d,180 min and 350 ml respectively.The intraoperative complication rate was 3.0％ (4/132),including 2 rectum injury and 2 iliac vessel injury.Pathological tumor stage revealed that ≤ pT2 N0 7 cases (5.3％),pT3a N0 61 cases (46.2％),pT3b N0 38 cases (28.8％),pT4N0 12 cases (9.1％) and pT1～4N1 14 cases (10.6％).The mean Gleason score was 8.0 (ranged 6 tol0).The numbers of patients with perineural invasion,seminal vesicle invasion and positive surgical margin were 81 cases (61.4％),49 cases (37.1％) and 41 cases (31.1％) respectively.The median follow-up duration was 24.1 (ranged 1.8 to 62.2) months.The rate of postoperative complications was 3.0％ (4/132) including 1 urethral stricture,1 wound infection,1 intestinal fistula and 1 lymphatic fistula.The rates of patients with urinary continence 1,3,6 and 12 months after surgery were 30.4％ (38/125)、63.9％ (76/119)、72.6％ (82/112)、89.1％ (90/101).The rates of adjuvant hormonal therapy and radiotherapy were 34.1％ (45/132) and 38.6％ (51/132).One patient (0.8％) died of lung cancer.The rate of biochemical recurrence(BCR) was 25.8％ (34/132).The 5-year BCRfree survival rate was 57.2％ (95％ CI 41.9％ ～ 70.6％).Conclusion The oncological control and functional recovery outcomes of ORP for locally advanced prostate cancer were reliable.

Objective To study the short-term effectiveness of robotic-assisted laparoscopic radical prostatectomy in high-risk prostate cancer.Methods From March 2012 to March 2017,400 patients with high-risk prostate who underwent robotic-assisted laparoscopic radical prostatectomy were reviewed.The median age was 68 years old(ranged from 49 to 83 years),and the median PSA was 23.1 ng/ ml(ranged from 5.2 to 999.0 ng/ml).Preoperative parameters,surgical interventional data,postoperative pathology and follow-up data were collected.Logistic regression was used to analyze the risk factors of positive surgical margin in postoperative pathology.Results All the operations were successfully completed.Median operation time was 115 min(ranged 50-555 min),and median estimated blood loss was 110 ml(ranged 30-500 ml).Six patients had perioperative complications,among which two were rectal injury,two were cardio-cerebrovascular disease and two were hemorrhage.There was no perioperative death.Positive surgical margin was detected in 151 patients,accounting for 37.8％.A total of 345 cases (86.3％) underwent lymphadenectomy,of which 253 cases (63.3％) were performed standardized resection and 92 cases (23％) were performed extensive resection.The median number of resected lymph nodes was 9 (ranged 3-36).Eighty cases (23.2％,80/345) were positive in resected lymph nodes.Regression analysis showed that preoperative PSA ＞ 20 ng / ml or clinical stage ≥ T2c were risk factors for positive surgical margins.After a median follow-up of 14.4 months (ranged 2.0-58.8 months),the overall incidence of biochemical recurrence was 33.4％ (107/320),and the urinary continence rate one year after operation was 86.6％ (277/320).Conclusions Robotic-assisted laparoscopic radical prostatectomy in patients with high-risk prostate cancer was a feasible,safe and effective approach.Preoperative PSA and clinical stage were the risk factors for positive surgical margin.

Objective This retrospective study compared the detection rates of prostate cancer between freehand transperineal biopsy (FTPB) and template-guided transperineal biopsy (TYPB) in the patients with PSA levels ＜ 20 ng/ml.Methods From April 2017 to April 2019,768 patients with PSA levels ＜ 20 ng/ml were included into this study.Of these patients,406 underwent FTPB procedures and 362 underwent TTPB procedures.There were no significant differences of median age [66.00(61.00,70.00)vs.66.00 (61.00,71.25) years],height [170.00 (165.00,172.00) vs.170 (165.00,173.00) cm],weight [70.00 (63.88,75.00) vs.70.00 (63.75,75.00) kg],BMI [24.22 (22.22,25.95) vs.24.22 (22.49,25.82) kg/m2],PSA [8.75 (6.49,12.40) vs.8.69 (6.49,11.96) ng/ml],fPSA [1.18 (0.33,2.15) vs.1.15(0.76,1.88)ng/ml],prostate volume [39.79(25.55,53.94)vs.39.88(24.46,55.11)ml] between two groups.Patients' biopsy results were recorded,the differences of prostate cancer detection rates between these two groups were analyzed,specifically including the cancer with Gleason score ≥ 7 and the anterior zone cancer.Results The total prostate cancer detection rates were 33.7％ (137/406) and 39.0％ (141/362,P =0.134) in FTPB group and TTPB group respectively,and the detection rates of cancer with Gleason score≥7 were 23.9％ (97/406) and 32.0％ (116/362,P =0.012) respectively.The detection rates of anterior zone prostate cancer were 15.5％ (63/406) and 27.3％ (99/362,P ＜0.001).Moreover,in thepatients with PSA ＜ 10 ng/ml,the prostate cancer detection rates were 29.8％ (74/248) and 36.2％ (81/224,P =0.144) respectively,while the detection rates of cancer with Gleason score ≥7 were 19.4％ (48/248) and 29.9％ (67/224,P =0.008) respectively.Conclusions There was no significant difference in the total prostate cancer detection rates between 12-core TTPB group and 20-core FTPB group in the patients with PSA ＜ 20 ng/ml,but for the detection rate of cancer with Gleason score ≥ 7,TTPB group was significantly higher than FTPB group,especially in the patients with PSA ＜ 10 ng/ml.In addition,for anterior zone prostate cancer,the detection rate of TrPB group was also higher than FTPB group.

Prostate cancer is one of the major problems of men's health. It has more obvious cancer heterogeneity, affecting the diagnosis, treatment and prognosis monitoring when comparing with other cancer. Thus, cancer related biomarkers are urgently needed to guide biopsy, treatment selection and follow-up. In the aspect of diagnosis, though the emerging of prostate specific antigen can raise the rate of diagnosis to some extent, it brings more unnecessary biopsies because of its low specificity. Cancer related long non-coding RNAs, single nucleotide polymorphism and fusion genes are proved to increase the diagnostic efficiency through high-throughput sequencing techniques. In the aspect of molecular classification, traditional Gleason score can discriminate different risk level of the cancer, but it is limited by the technicians. It is reported that copy number variations from DNA level and small RNAs, long non-coding RNAs from RNA level are related with the progress of cancer, indicating the potential role in cancer molecular classification. Although we are still on the way of the initial stage in exploring prostate cancer biomarkers, more useful and promising biomarkers will be found by high-throughput sequencing and molecular biotechniques.
Biomarkers, Tumor ; analysis ; Biopsy ; DNA Copy Number Variations ; Humans ; Male ; Prognosis ; Prostate-Specific Antigen ; Prostatic Neoplasms ; diagnosis ; therapy ; Sensitivity and Specificity

Prostate cancer (PCa) is the second most frequently diagnosed malignancy in men. Genome-wide association studies (GWAS) has been highly successful in discovering susceptibility loci for prostate cancer. Currently, more than twenty GWAS have identified more than fifty common variants associated with susceptibility with PCa. Yet with the increase in loci, voices from the scientific society are calling for more. In this review, we summarize current findings, discuss the common problems troubling current studies and shed light upon possible breakthroughs in the future. GWAS is the beginning of something wonderful. Although we are quite near the end of the beginning, post-GWAS studies are just taking off and future studies are needed extensively. It is believed that in the future GWAS information will be helpful to build a comprehensive system intergraded with PCa prevention, diagnosis, molecular classification, personalized therapy.
Continental Population Groups ; genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; trends ; Humans ; Male ; Polymorphism, Single Nucleotide ; Prostatic Neoplasms ; genetics

Objective: To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene. Methods: Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing. Results: The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T (p.Ser597Leu) in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results. Conclusion The heterozygous missense mutation C.1790C>T (p.Ser597Leu) of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.

A 3-year-old female proband presented with patchy follicular keratotic papules on the hairless scalp after birth. At about the age of 2 years, sparse hairs of non-uniform thickness began to grow, but they fell out intermittently and were broken easily. Some eyebrows and eyelashes of different lengths fell out or were broken. Physical examination revealed good condition of nutrition, normal height, weight and intelligence, with no obvious abnormalities in other systems. Skin examination showed sparse and broken hairs with follicular keratotic papules on the vertex and occiput. Teeth, nails, toenails and sweat glands were normal. Dermoscopy, optical microscopy and scanning electron microscopy all showed that affected hairs gave a beaded appearance. Gene sequencing showed that the proband carried heterozygous deletions of exons 2-16 in the desmoglein 4 (DSG4) gene, and a heterozygous mutation c.574T>C (p.S192p) (NM-177986) in the DSG4 gene, which were inherited from her father and mother respectively. None of the above mutations in the DSG4 gene were found in 100 healthy controls. According to the gene sequencing results and clinical phenotype, the patient was finally diagnosed with autosomal recessive hereditary monilethrix, and the c.574T>C mutation and heterozygous deletions of exons 2-16 of the DSG4 gene may contribute to autosomal recessive hereditary monilethrix in the child.