The Transition From Localized to Metastatic: A Case Report of Adult TFE3-Positive Xp11.2 Translocation Renal Cell Carcinoma.

Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) is a rare tumor, occurring more frequently in childhood than in adulthood. It results from Xp11.2 chromosome translocations and the fusion of the transcription factor E3 (TFE3) gene. In this context, we present a case report of an 18-year-old female who was diagnosed with Xp11.2 RCC following open radical nephrectomy and lymph node dissection on the left side. The histopathological analysis indicated stage T3aN1Mx disease, which was confirmed through immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH). The patient remained under observation until March 2023 when systemic scans uncovered the presence of ascites, peritoneal carcinomatosis, and left supraclavicular lymphadenopathy. A subsequent biopsy reaffirmed the primary disease, leading to the planning of systemic treatment involving tyrosine kinase inhibitors (TKIs) and immunotherapy. However, due to financial constraints, the patient's treatment options were limited to sunitinib initially. The current plan involves reevaluation after three months using scans to determine the subsequent course of treatment. Our case report offers crucial insights into the clinical presentation, diagnosis, and treatment of this rare malignancy. This enhances medical understanding, guides research, and improves the management of similar cases. Case reports like this share practical experiences, shaping future studies and patient care.

Locally Aggressive Mixed Epithelial and Stromal Tumour of Kidney Leading to Nephron Loss.

Mixed epithelial and stromal tumour (MEST) is a rare benign renal tumour. It is mainly found in perimenopausal women. We present a case of a 42-year female with no known comorbid who was presented in the outpatient clinic for the right flank pain. Contrast-enhanced CT scan revealed a complex renal cyst with internal septations. Considering a large symptomatic cyst and the presence of internal septations, she was planned for cyst excision. Peroperatively, significant disease progression and loss of renal parenchyma were noted contrary to preoperative scan. Histopathology of the specimen revealed MEST. We demonstrate that MEST of the kidney may have an aggressive local behaviour leading to nephron loss. Key Words: Mixed epithelial and stromal tumour, Kidney, Benign, Renal neoplasm.

Nephron sparing surgery for renal tumors-comparison of off-clamp partial nephrectomy with hilar clamping.

BACKGROUND AND OBJECTIVE: Open partial nephrectomy (PN) is still considered gold standard procedure for T1 localized renal tumors. Conventional technique involves clamping of the renal artery with or without vein however, renal ischemia produces a certain level of damage to the kidneys. This study aims to investigate potential effect of off-clamp vs. hilar clamping PN on renal function. METHODS: This is a retrospective cohort study of patients who underwent unilateral, open partial nephrectomy for renal tumors b/w January 2009 December 2016 at our institution. A total of 90 partial nephrectomies were performed of which 65 cases were eligible for analysis. Non clamping technique was used in 43 while clamp was applied in 22 patients. Variables studied were patients' demographics, clinical variables, the laterality, tumors size and location, R.E.N.A.L nephrometry score, blood loss, tumor histology and surgical margins. Patients' renal function (serum creatinine and eGFR) were determined pre-operatively, at 3 and 12 months follow up. Data was analyzed on SPSS v. 22. RESULTS: Both the groups were comparable with regards to pre-operative renal function. Mean radiological size of tumor was 4.71±1.31 and 3.81±1.0 (0.003) in two groups respectively. Mean R.E.N.A.L nephrometry score was 6.1±1.5 in off-clamp group compared to 7.05 ± 1.7 in clamp group (p=0.04). No statistically significant difference was found in operative duration, blood loss, positive surgical margins and intra/ peri-operative complications. At three months and one year, renal function was better preserved in non-clamp group compared to clamp group (p=0.001 and 0.007 respectively). CONCLUSION: Off clamp open partial nephrectomy is safe and feasible option leading to less decline in renal function.

Sexual dysfunction in men after high energy pelvic fractures: Narrative review of targeted literature.

Pelvic fractures represents high energy trauma with associated other organ injuries including intra-abdominal injuries, haemorrhage and extremity injuries. Anatomical location of genitourinary structures makes them vulnerable to injury with pelvic fracture. Incidence of sexual dysfunction varies in literature with 5% incidence of dysfunction in patients without urethral injury and 42% with urethral injuries. Hence in pelvic fracture, erectile dysfunction may be due to neurogenic, vascular, corporal and psychogenic injury. In this narrative review of targeted English literature from all level of evidences, which is written and supervised by experienced specialized orthopaedic, trauma and urology surgeons who were among the pioneers of conducting pelvis fracture management workshops in the country, we aim to describe the mechanism that can lead to erectile dysfunction after pelvic fracture, assessment principles, decision-making and preoperative planning and indications of operative managements.

Foreign Body in Kidney Presenting as Renal Stone.

Retained foreign bodies in the urinary system are commonly found in the urinary bladder but are a rare finding in the renal pelvis. Foreign objects can reach the renal pelvis via different pathways. The presence of a foreign body could be iatrogenic, or via direct penetration from the gastrointestinal tract. Presentation could mimic tumor, abscess, hematoma, or even renal stone. We report an unusual case of intrarenal foreign body presenting as renal stone. The patient presented with flank pain and symptoms suggestive of renal stone and a non-contrast CT scan was also indicative of stone, however on endoscopy a foreign body was identified and retrieved.

Spontaneous rupture of pyonephrosis leading to pyoperitoneum.

Forniceal rupture after pyonephrosis can lead to retroperitoneal abscess but extension into peritoneal cavity is unusual. We present a case of 50 year old lady who presented with acute abdomen, CT scan of abdomen showed features suggestive of left pyelonephritis and large intraperitoneal collection. Laparotomy was planned on suspicion of intraperitoneal source of sepsis. Peroperatively no intraperitoneal source of sepsis was found. Retrograde pyelography showed forniceal rupture at lower pole of kidney extending to peritoneal cavity without any obstructing stone or lesion. This case highlights an unusual presentation of pyonephrosis with peritonitis and pyoperitoneum.

Intravesical Foreign Body: Tertiary care center experience from Pakistan.

Foreign body in bladder is relatively uncommon condition with variable presentations. Literature is limited to case reports and small series from region. Therefore, we planned this study to review our experience regarding intravesical foreign body. This retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised 14 patients having intravesical foreign bodies from March 1989 to March 2013. Demographics, presentation, mode of insertion, type of foreign body and management were noted. Of the 11(78.6%) patients included in the study, 10(90.9%) patients were male and 1(9.1%) was female. The mean age was 51± 20 years. In 5(45.5%) patients, foreign bodies reached bladder by iatrogenic route followed by self-insertion in 4(36.4%) patients. Retrieved foreign bodes included piece of Foley\'s catheter, electric wire, ureteric stent, plastic material, double-J stent pusher, Endo gastrointestinal (GI) staples, sticks of broom and bomb shrapnel. All patients were managed successfully with endoscopic removal. However, 5(45.5%) patients required additional urological procedures. This could represent a urologic challenge. Careful history and symptoms could lead to further investigations.

Adrenalectomy for solitary metastasis of Hepatocellular carcinoma post liver transplantation: Case report and literature review.

Liver transplantation (LT) is the treatment of choice for localized hepatocellular carcinoma (HCC) associated with cirrhosis. Extra hepatic metastasis is the most common cause of death in these patients. There is very little evidence regarding the natural history and treatment options for patients developing HCC recurrence after LT. Surgical resection offers a unique opportunity for solitary metastasis. We report a 61 year old male with solitary right adrenal metastasis 15 months post LT which was managed with open adrenalectomy. The patient is alive and disease free 24 months after the surgery. The case, histo-pathological findings and literature review is discussed.

Pheochromocytoma associated with von Hippel-lindau disease in a Pakistani family.

OBJECTIVES: The aim was to study the presentation, disease characteristics, operative outcome, and prognosis in patients with familial Pheochromocytoma associated with von Hippel-Lindau (VHL) disease. MATERIALS AND METHODS: There were six patients belonging to two generations of a single family who developed features of VHL over a period of 13 years and were treated at our institute. Patients' characteristics, that is, age, gender, presenting complaints and clinical signs, laboratory and biochemical evaluation, and the presence of associated conditions was gathered from medical records. The preoperative and postoperative radiological imaging and histopathological results were also collected. RESULTS: Out of six cases, five were male, and one was female. The mean age at first presentation was 25 years (16-40). All patients presented with uncontrolled hypertension and were found to have Pheochromocytoma on workup. Three patients had unilateral adrenal tumor, and three had bilateral disease. None of the patients had extra-adrenal Pheochromocytoma. All patients were managed with adrenalectomy and had benign pathology. Two patients subsequently had craniotomy for excision of cerebellar hemangioma, and one patient had bilateral partial nephrectomy at the time of adrenalectomy. There was no peri- post-operative mortality and all patients are being followed by the surgeon(s) and endocrinologist. CONCLUSION: Pheochromocytoma can be a part of familial conditions including VHL. Other associated features should be suspected, investigated, and treated in these patients that can influence patients' clinical course and prognosis. Family members should also be screened to achieve early diagnosis.

Late presentation of posterior urethral valves.

Presence of posterior urethral valves (PUV) is the most common cause of urinary tract obstruction in the male neonate. Late presentation occurs in 10% of cases. We present a case of PUVs in an adult male who presented with history of obstructive lower urinary tract symptoms and hematuria. On evaluation, he was found to have raised serum creatinine level. A voiding cystourethrogram (VCUG) could not be completely performed because of narrowing in the posterior urethra. A rigid urethrocystoscopy was performed at which he was found to have type-I posterior urethral valve which were fulgurated. A repeat uroflowmetry revealed maximum flow rate of 12 ml/second. This case highlights that PUVs is not solely a disease of infancy but may also present late. VCUG is the radiological investigation of choice but the diagnosis may be missed. A urethrocystoscopy is advised if there is a high index of suspicion.

The accuracy of three-dimensional bladder ultrasonography in determining the residual urinary volume compared with conventional catheterisation.

OBJECTIVE: To determine the accuracy of three-dimensional bladder ultrasonography (US, using the BVI 3000, Verathon, WA, USA) for determining the residual urinary volume, compared with the conventional catheterisation method. PATIENTS AND METHODS: We conducted a cross-sectional study at day-care unit of a University hospital after obtaining approval from the Ethics Review Committee of the hospital. Thirty-four patients with lower urinary tract symptoms requiring cystometrography were included. The postvoid volume was measured by bladder US, with three readings taken, and then patient was catheterised using a 12-F Nelaton catheter to measure the urinary volume. The mean of the three readings was compared with the catheterisation volume. RESULTS: The mean (SD) urinary volumes by US and catheterisation were 261 (186) and 260 (175) mL, respectively, and the correlation (r (2)) was 0.97. There was no effect of age, gender or body mass index on the accuracy of bladder US, which was accurate even when the urinary volume was ⩽100 mL. CONCLUSION: The bladder US estimate is as accurate as catheterisation for determining the postvoid residual urinary volume. Its accuracy was also comparable when the urinary volume is <100 mL, and there was no significant effect of age, gender and body mass index. This system could replace the more invasive catheterisation, and with excellent accuracy.

Sarcomatoid carcinoma of prostate involving the whole lower urinary tract and rectum.

Sarcomatoid carcinoma of prostate is an extremely rare but aggressive neoplasm. It is generally associated with a poor prognosis. About 100 cases have so far been reported in the English literature. We report the case of a 64-year-old male with a very rapidly progressive disease that ultimately involved the whole lower urinary tract and rectum. The management of this case along with etio-pathogenesis and literature review is discussed.

Outcomes of Xanthogranulomatous cholecystitis in laparoscopic era: A retrospective Cohort study.

INTRODUCTION: Xanthogranulomatous cholecystitis (XGC) is a rare variant of cholecystitis and reported incidence of XGC varies from different geographic region from 0.7% -9%. Most of the clinicians are not aware of the pathology and less evidence is available regarding the optimal treatment of this less common form of cholecystitis in the present era of laparoscopic surgery. MATERIALS AND METHODS: A retrospective cohort study was conducted in a tertiary care university hospital from 1989 to 2009. Histopathologically confirmed XGC study patients (N=27) were compared with non-Xanthogranulomatous cholecystitis (NXGC) control group (N=27). The outcomes variables were operative time, complication rate and laparoscopic to open cholecystectomy conversion rate. The study group (XGC) was further divided in to three sub groups; group I open cholecystectomy (OC), laparoscopic cholecystectomy (LC) and laparoscopic converted to open cholecystectomy (LCO) for comparative analysis to identify the significant variables. RESULTS: During the study period 6878 underwent cholecystectomy including open cholecystectomy in 2309 and laparoscopic cholecystectomy in 4569 patients. Histopathology confirmed xanthogranulomatous cholecystitis in 30 patients (0.43% of all cholecystectomies) and 27 patients qualified for the inclusion criterion. Gallbladder carcinoma was reported in 100 patients (1.45%) during the study period and no association was found with XGC. The mean age of patients with XGC was 49.8 year (range: 29-79), with male to female ratio of 1:3. The most common clinical features were abdominal pain and tenderness in right hypochondrium. Biliary colic and acute cholecystitis were the most common preoperative diagnosis. Ultrasonogram was performed in all patients and CT scan abdomen in 5 patients. In study population (XGC), 10 were patients in group I, 8 in group II and 9 in group III. Conversion rate from laparoscopy to open was 53 % (n=9), surgical site infection rate of 14.8% (n=4) and common bile duct injury occurred one patient in open cholecystectomy group (3.7%). Statistically significant differences between group I and group II were raised total leukocyte count: 10.6±3.05 vs. 7.05±1.8 (P-Value 0.02) and duration of surgery in minutes: 248.75±165 vs. 109±39.7 (P-Value 0.04). The differences between group III and group II were duration of surgery in minutes: 208.75±58 vs. 109±39.7 (P-Value 0.03) and duration of symptoms in days: 3±1.8 vs. 9.8±8.8 (P-Value 0.04). The mean hospital stay in group I was 9.7 days, group II 5.6 days and in group III 10.5 days. Two patients underwent extended cholecystectomy based on clinical suspicion of carcinoma. No mortality was observed in this study population. Duration of surgery was higher in XGC group as compared to controls (NXGC) (203±129 vs.128±4, p-value=0.008) and no statistically significant difference in incidence proportion of operative complication rate were observed among the group (25.9% vs. 14.8%, p-value=0.25. Laparoscopic surgery was introduced in 1994 and 17 patients underwent laparoscopic cholecystectomy and higher conversion rate from laparoscopic to open cholecystectomy was observed in 17 study group (XGC) as compared to 27 Control group (NXGC) 53%vs.3.3% with P-value of < 0.023. CONCLUSION: XGC is a rare entity of cholecystitis and preoperative diagnosis is a challenging task. Difficult dissection was encountered in open as well in laparoscopic cholecystectomy with increased operation time. Laparoscopic cholecystectomy was carried out with high conversion rate to improve the safety of procedure. Per operative clinical suspicion of malignancy was high but no association of XGC was found with gallbladder carcinoma, therefore frozen section is recommended before embarking on radical surgery.