Clinical Exome Gene Panel Analysis of a Cohort of Urothelial Bladder Cancer Patients from Sri Lanka.

BACKGROUND: Bladder cancer has a high rate of recurrence and high mortality rates in those who progress to muscle invasive disease. Biomarkers and molecular sub classification of tumours beyond standard histopathology has been proposed to address therapeutic dilemmas. The Cancer Genome Atlas project and other studies have contributed to the enhanced knowledge base of the mutational landscape of urothelial bladder cancer. Once again, these are mostly from Caucasian and Chinese patients, with data from the rest of Asia and Sri Lanka being sparse. The objective of this study was to assess the genomic variations of a cohort of urothelial bladder cancer patients in Sri Lanka. METHODS: The molecular genetic study was conducted on formalin fixed paraffin embedded tumour samples of 24 patients, prospectively enrolled from 2013 to 2017. The samples were sequenced and variant distribution performed based on a 70-gene panel. RESULTS: Total number of filtered mutations in the 24 patients was 10453. Median mutations per patient were 450 (range 22-987). The predominant mutational change was C>T and G>A. The top 5 mutated genes in our cohort were SYNE1, SYNE2, KMT2C, LRP2, and ANK2. The genes were clustered into 3 groups dependent on the number of mutations per patient per gene. The genes of cluster 1 and 2 mapped to Chromatin modifying enzymes and Generic Transcription Pathway. The chromatin remodelling pathway accounted for the largest proportion (22%) of mutations. CONCLUSIONS: Clinical exome sequencing utilising a gene panel yielded a high mutation rate in our patients. The predominant mutational change was C>T and G>A. Three clusters of genes were identified. SYNE1 was the gene with the most mutations. The mutations comprised predominantly of genes of the chromatin remodelling pathway.

A case report of post-surgical page kidney due to extensive renal hematoma following percutaneous nephrolithotomy.

INTRODUCTION AND IMPORTANCE: Post-surgical Page kidney due to large renal hematoma following percutaneous nephrolithotomy (PCNL) is a rare significant complication that may lead to loss of a kidney. CASE PRESENTATION: A 50-year-old lady underwent elective left side PCNL for a 3 cm renal pelvis stone, and one week later, she presented back with a massive renal hematoma with high blood pressure. CLINICAL DISCUSSION: The ultrasound abdomen and computed tomography diagnosed a page kidney due to massive intrarenal and perirenal hematoma as a complication of PCNL. Angioembolization and percutaneous aspiration were failed, and the antihypertensives also failed to control the blood pressure. Therefore, she underwent a left-side simple nephrectomy and had an uneventful recovery with reversal of normal blood pressure. CONCLUSION: Post-surgical page kidney needs to identify early to facilitate the percutaneous radiological interventions that may preserve the renal parenchyma and avoid further surgeries. Nevertheless, late cases or the failed radiologically intervened cases need open renal exploration and simple nephrectomy, which may be the bailed-out procedure to reverse the consequence of page kidney.

Neurofibroma invading into urinary bladder presenting with symptoms of obstructed defecation and a large perineal hernia.

BACKGROUND: Pelvic floor hernias pose a diagnostic and a treatment challange. Neurofibromatosis is a rare systemic disease, and urinary tract involvement is rare. CASE PRESENTATION: Here we report a case of a 54-year-old female with multiple neurofibromatosis who presented with features of obstructed defecation and was found to have a large perineal hernia. At surgery, we found an unusual herniation of a large neuropathic bladder and rectum through a perineal defect. She underwent reduction cystoplasty and repair of the pelvic floor using a prolene mesh. Subsequent histopathological examination confirmed a large neurofibroma infiltrating the urinary bladder. CONCLUSION: Neurofibromatosis of the bladder is rare it should be considered as a differential diagnosis in patients presenting with symptoms of obstructed defecation.

Giant retroperitoneal desmoid tumour.

A giant retroperitoneal desmoid (30 x 15 cm), in a 16-year old girl arising from psoas fascia is reported. Despite debulking surgery, adjuvant radiotherapy, anti-oestrogen agents and non-steroidal anti-inflammatory agents, 3 years later she died from tumour invasion of major blood vessels and bowel, leading to massive gastrointestinal bleeding.

An unusual presentation of female urethral leiomyoma.

Leiomyoma of the urethra is a rare clinical entity. We report an unusual presentation of this tumour, which led to a diagnostic and surgical dilemma. The patient was a 16-year old female who presented with a labial mass which was palpable abdominally. Imaging methods and laparoscopy demonstrated a well defined soft tissue mass arising from the pelvis, without any obvious involvement of the urinary tract. The tumour (8 x 10 cm) was completely excised with reconstruction of the bladder and urethra. Histology confirmed a cellular leiomyoma.

Early catheter removal after transurethral resection of the prostate.

INTRODUCTION: Post-operative care of transurethral resection of the prostate (TURP) includes prolonged bladder irrigation that places a heavy burden on the nursing staff and a substantial strain on the budget. There is a trend towards early catheter removal after TURP even to the extent of performing it as a day case. We explored the feasibility and limitations of early catheter removal after TURP in our unit. DESIGN: Prospective study. SETTING: Department of Urology, The National Hospital of Sri Lanka (NHSL), Colombo. PATIENTS AND METHODS: The study was in a tertiary referral centre (NHSL), on 65 patients with a mean age of 67.5 years who underwent TURP for mild to moderate enlargement of the prostate, less than 25 g, with lower urinary tract symptoms. Post-operative irrigation was maintained by diuretics at operation or a short term saline irrigation in the operating theatre. RESULTS: 17 patients developed clot retention in the ward that was managed by irrigation for 12 to 24 h. 62 patients who had clear or minimally blood-stained urine were tried without catheter after 24 h. Only two failed to pass urine. Patients without other complications were discharged from hospital after 1 or 2 successful voidings on the same day. There were no readmissions with complications. CONCLUSIONS: This study supports the feasibility of early catheter removal after a short irrigation period in TURP in the majority of patients with mild to moderate enlargement of the prostate without significantly increasing post-operative complications.