Malignancy after Augmentation Enterocystoplasty: A Nationwide Study of Natural History, Prognosis and Oncogene Panel Analysis.

PURPOSE: We report the natural history and prognosis of tumors after augmentation enterocystoplasty, with a molecular analysis using an oncogene panel to search for potential targeted therapies. MATERIALS AND METHODS: This multicenter, nationwide, retrospective study included 16 patients. A panel of 21 clinically relevant oncogenes was tested on archival tumor specimens using next-generation sequencing. Survival rate was the main clinical outcome and sequences were compared to the reference genome for the genetic outcome. RESULTS: Augmentation enterocystoplasties were performed mainly for congenital neurogenic bladder and bladder exstrophy at a median patient age of 17 years (range 4 months to 45 years). Most of the malignancies were diagnosed because of clinical manifestations, with a median latency period of 20 years. Adenocarcinomas were mainly found after gastrocystoplasty, whereas urothelial cell carcinomas were typically found after colocystoplasty. Of the 16 patients 13 were diagnosed at an advanced stage of the disease (positive lymph nodes in 7, distant metastases in 6). The overall 1-year survival rate was 56%. Only 3 patients remained disease-free at a median followup of 70 months. Of the 9 tumors with analyzable DNA 4 were wild-type and 5 harbored missense mutations (KIT-p.Pro573Ser, PDGFRA-p.Glu587Lys, KRAS-p.Gly12Asp, ERBB4p.Arg484Lys, CTNNB1-p.Ser37Phe and p.Ser47Asn). CONCLUSIONS: Malignancy after augmentation enterocystoplasty is diagnosed late with frequent metastases and a very low 1-year survival rate. More than half the tested samples harbored missense mutations in oncogenes accessible to targeted therapies. An international collaboration to enlarge the genetic panel analysis of these tumors may offer new therapeutic hope to patients.

[From paediatric urological care to adult urology. Assessment of a transition consultation for adolescents]. / De l'urologie pédiatrique à l'urologie adulte, quelle prise en charge de l'adolescent ? État des lieux d'une consultation de transition en urologie.

To provide an adequate lifelong urological care in the complex period of adolescence, a transition consultation conducted by a paediatric surgeon and an urologist was developed in our institution. As a real rite of passage, it allows the follow-up and the adapted care of urological conditions, sometimes complex, and permits the transition between childhood and the world of grown-ups. We reported our experience at the Children Hospital of our institution (paediatric surgery and urology departments). During a 6 months period (January-July 2015), forty-five young adults with a mean age of 17.8±3.6 years were seen in transition consultation. Eight patients had neurogenic voiding disorders (4 spina bifida, 1 multiple sclerosis, 1 mitochondrial encephalopathy, 1 metachromic leucodystrophy, 1 paraplegia), 9 patients had idiopathic voiding disorders, 1 patient had a non obstructive malformative uropathy; and 30 patients had surgery during infancy and childhood: hypospadias in 17 young men and malformative uropathy in 13 patients. This consultation occurred within 4.6±4.5 years after the last consultation with paediatric surgeon. For 6 patients, the transition consultation was the first for the urological problem. After this consultation, 8 patients stayed in paediatric surgery and 37 patients were referred to adult urologist. Among those 8 patients: 2 patients had cognitive and psychiatric disorders; 4 patients refused to be transferred to adult unit; 2 patients wanted to come back at transition consultation. Among the 37 patients transferred in adult urological care: 6 patients had urological surgery, and one patient was referred to a sexology consultation. The remaining 30 patients have initiated long-term monitoring. All reconvened patients came back at the follow-up visit (at least 12 months follow-up). A 16-year-old patient (spina bifida with polymalformative syndrome) developed a depressive syndrome at the end of the consultation, in the motive of an awareness of the definitive nature of his handicap and the need of medical follow-up throughout his life. Transition consultation makes easier the passage from paediatric care to adult urological care. It allows a smooth change of interlocutors, facilitates subsequent care and improves compliance to medical follow-up. It requires a good collaboration between paediatric and adult care units. Transition responds to an increasing request of adolescents, families, and medical teams, since care rupture during adolescence can have functional and psychological consequences. LEVEL OF PROOF: 4.

Free tubularised vesical mucosa graft for congenital stenosis of the urethra in children.

BACKGROUND: Reconstruction of urethral strictures in children remains a challenge to the pediatric surgeon as these are often related to different rare congenital anomalies with various clinical presentations that endanger renal function and should be repaired in young children. Multiple techniques have been described for their repair. We aimed to determine whether the use of a free tubularised bladder mucosal graft associated to a prior tubeless vesicostomy was feasible and sure, as this technique of reconstruction using tubularised grafts has not been described yet in young children. RESULTS: Two newborn male patients were referred to our department. Both presented a congenital stenosis of the urethra as a part of a complex urethral malformation. Surgery involved prior tubeless vesicostomy, free bladder mucosal graft for urethral reconstruction, and vesicostomy closure for both children. Postoperative evolution was satisfying in both children and cystourethroscopy showed permeable urethra. Satisfying cosmetic and functional results have been obtained in the two cases. CONCLUSIONS: The prior vesicostomy prevents kidney damage in the context of complex genital and urinary malformations. Bladder mucosa's immunohistological properties are the most similar to those of the urethral tissue, and are appropriate for this type of correction, making our technique feasible and sure. LEVEL OF EVIDENCE: 5.

[Tibial nerve transcutaneous stimulation for refractory idiopathic overactive bladder in children and adolescents]. / Stimulation transcutanée du nerf tibial dans le traitement des hyperactivités vésicales réfractaires de l'enfant et de l'adolescent.

INTRODUCTION: The purpose of this study was to evaluate safety and tolerability of transcutaneous tibial nerve stimulation (TENS) in patients under 15years of age with refractory overactive bladder. MATERIALS AND METHODS: A retrospective analysis was conducted on outcomes of TENS (1daily 20-minute session, 10Hz) in patients with refractory overactive bladder, excluding patients with neurogenic bladder. Treatment efficacy was evaluated on symptomatic improvement and voiding schedule. Healing was defined as following: no recurrence of urinary tract infection, normal urodynamic voiding parameters, no nighttime continence disorder, normal uroflowmetry. RESULTS: Nineteen consecutive patients with refractory overactive bladder were treated from November 2010 to March 2012 (11girls, 8boys, age 12.1±2.7 years). Three patients reported only daytime voiding disorders, the others reported daytime and nighttime voiding disorders. Ten patients reported febrile urinary tract infection (1 boy, 9 girls). The average length of treatment was 6 months. Two patients were lost to follow-up. Thirteen patients had only tibial TENS; 3 patients had tibial TENS and trospium chloride or desmopressin. At 1-month assessment, 16 patients out of 17 (94%) reported symptomatic improvement. At the end of treatment, 12 patients out of 17 (70%) met healing criteria (5 boys, 7girls), without relapse within 9 months. Three boys (18%) had partial improvement (no daytime wetting, but increased daytime frequency). No patient reported side effects. CONCLUSION: Tibial TENS is a safe, non invasive and effective treatment in refractory overactive bladder in children. The success rate is 70%, with no side effect and no relapse at the end of the treatment in our study.

[Management of urachal remnants in children: Is surgical excision mandatory?]. / Prise en charge des résidus de l'ouraque au cours de l'enfance : l'exérèse chirurgicale est-elle obligatoire ?

INTRODUCTION: The classical management of urachal remants consists in surgical resection, in order to prevent infections and long term malignancies. However, some reports have recently spread a wait and see management. The aim of our study was to report the results of the surgical management in our center. MATERIAL AND METHODS: We conducted a retrospective, monocentric review of all patients managed for urachal remnants from January 2005 to December 2014. RESULTS: Thirty-five patients have been operated during the study period (18 girls and 17 boys). Mean age at surgery was 4,9±4,4 years old. Twenty-seven patients were referred due to symptoms whereas 8 were discovered incidentally (4 by ultrasound scan and 4 during laparoscopy). Among them, 10 were urachal cysts, 15 were urachus sinusa and 10 were patent urachus. Thirty were operated using an open approach and 5 using a laparoscopic approach. Mean length of stay was 3,8±1,7days (1-10) with a mean duration of bladder drainage of 2,5±1 days. No major complications occurred. No abnormal tissue was discovered at the histological analysis. CONCLUSION: Presentation of urachal remnants is variable but surgical outcomes remain excellent in our experience. When symptoms occur, the surgical decision is easy, but when the diagnosis is incidental, the decision is much more complicated. Official guidelines could ease the decision process and the management of urachal anomalies.

[Long-term outcomes after hypospadias surgery: Sexual reported outcomes and quality of life in adulthood]. / Vie sexuelle des jeunes adultes opérés dans l'enfance d'un hypospadias postérieur.

OBJECTIVE: To evaluate outcomes and long-term sexual quality of life after hypospadias surgery. Seventeen-years-old patients operated for a posterior hypospadias in childhood were included in a transversal study. PATIENTS AND METHODS: Fifteen patients, among the forty children treated since 1997, accepted to participate. These young men (mean age at the first surgery was 27.9±20months) were clinically reviewed and responded to questionnaires (EUROQOL 5, IIEF15 and non-validated questionnaire). This study arises about 8.4±5years after the last visit in paediatric department. RESULTS: Mean study age was 21.2±4.7years. One third of patients thought that global quality of life was distorted. Although 33% of the patients had erectile dysfunction, 80% were satisfied with their sexual quality of life. The most important complains were relative to the penile appearance. Number of procedures was not predictive of patient's satisfaction about penile function and appearance. Thirty-three percents of the patients would have been satisfied to have psychological and medical support. They would be interested in having contact with patients who suffered from the same congenital abnormality. CONCLUSION: These patients had functional and esthetical disturbances. This visit leads to a specific visit in 20% cases. In this study, medical follow-up does not seem to be counselling and had to be adapted. Adequate follow-up transition between paediatric and adult departments especially during adolescence seems to be necessary.

[Laparoscopic transposition of lower polar vessels for pyelo-ureteral junction obstruction: preliminary experience]. / Transposition des vaisseaux polaires pour syndrome de la jonction pyélo-urétérale : expérience préliminaire.

AIM OF THE STUDY: Lower pole vessels are a classical cause of PUJO even in children. The "gold standard" in the management of PUJ obstructions remains a dismembered pyeloplasty as described by Anderson and Hynes. However, some authors have developed an alternative procedure to this approach with encouraging results. The aim of our study was to evaluate our preliminary results concerning laparoscopic vascular hitch for crossing vessels. MATERIAL AND METHODS: We conducted a retrospective, monocentric study of all patients managed by this technique from January 2010 to December 2012. RESULTS: Eleven patients (7 boys, 4 girls) were managed by laparoscopy at a mean age of 10.7 years (5.4-17). They were referred to our center for clinical symptoms (intermittent pain 7, high blood pressure 1, UTI 1), antenatal diagnosis or accidental discovery. Obstruction was confirmed by MAG3 nephrogram and the presence of obstructive vessels by tomodensitometry or MRI. Mean operative time was 90.2minutes (48-184). Seven patients over 11 were strictly managed by laparoscopic transposition of lower pole vessels. Four required a classical video-assisted dismembered pyeloplasty due to a potential intraluminal stenosis. The latter were suspected by a distension test with furosemid in all four cases. Mean follow-up was 12.9±3 months. Nine patients over 11 were totally non symptomatic, whereas 2 still present mild intermittent pain. In all cases, ultrasound scans show an improvement of the pelvic dilatation. CONCLUSION: Laparoscopic transposition of lower pole vessels is a suitable and feasible alternative for the management of obstructive PUJ. Our preliminary experience emphasizes the need for a precise preoperative selection of patients along with a per operative evaluation of the obstruction. Further experience seems required to improve our criteria in this indication. LEVEL OF EVIDENCE: 5.

[Study of renal veins by multidetector-row computed tomography scans]. / Étude radiologique des variations anatomiques des veines rénales par scanner multidétecteurs en coupes fines.

PURPOSE: To determine the prevalence of renal vein variants. To investigate the distribution of renal veins. METHODS: We retrospectively reviewed spiral computed tomography (CT) scans of the abdomen performed during a two-month period. The same protocol was used for all CT scans: same multidetector-row CT scanner (Siemens(®)), 1 to 2-mm section thickness, injection of intravenous iomeprol. The study group included 121 patients, aged 21.7 to 93.4 years (mean age 60.9 ± 15.4 years). The sex ratio was 2/1, with 80 men and 41 women. RESULTS: Seventy-three percent of the study group (88 patients) had no variants of the renal veins. Indeed almost 40% (48 patients) had one artery and one vein on each side, with typical course, and 33% (40 patients) had course and/or number variants of the renal arteries. Variants of the right renal vein consisted in multiple veins in 20.6% (25 cases). We detected no case of multiple left renal veins, but we described variations of its course in 9.1% (11 cases): 5 cases of retroaortic left renal vein (4.1%) and 6 cases of circumaortic left renal vein (5%). Three of these 11 patients had an associated double right renal vein. The probability to have a right renal vein variant was significantly higher than a left one (OR = 2.6, P = 0.01). And we found a significantly higher risk of having a venous variant in women (OR = 2.4, P = 0.04). We detected no case of inferior vena cava variant. CONCLUSION: In our study, prevalence of a circum- or retroaortic left renal vein appeared higher than previously reported in the literature (9.1%). Knowledge of anatomical variants of renal vasculature is crucial and this study puts the emphasis on variations of course and number of renal vessels. Those variations are not so uncommon and should be known by radiologists and also by surgeons. Their knowledge has major clinical implications in practice and it contributes to the safety of renal and retroperitoneal surgery.

[Laparoscopic robot-assisted partial nephrectomy with total ureterectomy in a symptomatic complete duplicated system: advantages of transperitoneal approach]. / Néphrectomie polaire supérieure gauche robot assistée avec urétérectomie associée, dans le cadre d'un système urinaire double complet symptomatique.

We report the case of a laparoscopic robot assisted left upper polar partial nephrectomy with total ureterectomy performed in a teenager. A 14 year-old girl was referred to our institution for stress urinary incontinence. The morphological assessment (ultrasound scan and uro-MRI) showed a double collecting system with a complete ureteral duplication complicated by a dysplasia of the upper moiety of the duplex left kidney and a mega ureter. The surgery started on a lateral decubitus position by the upper polar partial nephrectomy and the ureter section behind superior polar renal vessels. The patient was placed in a supine position and the mega ureter was released and sectioned at the level of the distal adynamic segment in the left uterine parameter. The transperitoneal route was chosen as it provides a large workspace and allows the dissection of the ureters into their pelvic portion by a simple repositioning of the robot ports without additional incision and without any modification of the operative field. No intraoperative and postoperative complication was noticed. Laparoscopic robotic assisted surgery in pediatric urology is increasing, and to our knowledge, we reported this technique and surgery for the first time in France and in children. In the reported case, we showed that the robotic minimally invasive surgery in children is an innovative and safe technique for the treatment of symptomatic upper urinary tract malformations.

[Is there an outcome difference between posterior urethral valves diagnosed prenatally and postnatally at the time of antenatal screening?]. / Impact de l'âge au diagnostic sur le devenir à long terme des patients opérés de valves de l'urètre postérieur.

PURPOSE: Posterior urethral valves (PUV) diagnosed during childhood have classically been associated with a better outcome than antenatally diagnosed PUV. The aim of our study was to compare long-term outcome of these two patients' groups. MATERIAL AND METHODS: We retrospectively reviewed the medical records of boys with PUV managed between 1990 and 2010. Patient demographics, clinical background, radiographic data (including prenatal ultrasonography data when available), renal and bladder functional outcomes, surgical procedures and urinary tract infections (UTI) were abstracted. Impaired renal function (IRF) was defined as glomerular filtration rate less than 90 mL/min/1.73 m(2) at last follow-up. RESULTS: We identified 69 patients with confirmed PUV. Thirty-eight were diagnosed prenatally (group 1) at 30.5 weeks of gestation and 31 had a delayed diagnosis (group 2) at a median age of 6.31 years. At diagnosis, 20 patients in group 1 had renal insufficiency versus two in group 2 (P<0.05). At the end of mean follow-up of 7.2 ± 0.5 years, in group 1, 26.3% developed IRF versus 6.3% in group 2 (mean follow-up 2.3 years). Mean age at last follow-up was 7.3 years in group 1 versus 8.3 in group 2 (P>0.05). In group 1, 27% had voiding dysfunction versus 30% in group 2 (NS). In group 1, 35% had UTI during follow-up versus 10% (P=0.01). CONCLUSION: During the follow-up, the patients with delayed diagnosis VUP have developed fewer complications related to the initial obstruction than the population who was detected antenatally and managed from the early hours of life. However, the rate of IRF and voiding disorders in our study, associated with the data of the literature, highlights the potential persistence and worsening of these conditions. That is why, whatever the age at diagnosis, VUP patients require a close monitoring.

[Primary obstructive megaureters: long-term follow-up]. / Méga-uretères primitifs : étude rétrospective sur dix ans.

INTRODUCTION: The objective of this study was to evaluate the clinical outcome of primary megaureters and to evaluate predictive factor for surgery need based on ultrasound values. METHODS: A total of 43 primary obstructive megaureters detected in 41 patients have been evaluated between January 2000 and may 2010. RESULTS: Mostly boys (73%) were concerned by megaureters, mainly on the left side (66%). Twenty patients were prenatally diagnosed. Surgical indications were: pyonephrosis (3), recurrent pyelonephritis (14), scintigraphic damage (3), ureteric diameter aggravation (7), disease occurring on unique kidney (2). Regarding the 30 patients who benefit surgery, the retrovesical ureter measured, before surgery 19.15 mm (± 7.17) on average and 3.18 mm, 44 months later. Over the 10 patients treated medically, the initial diameter was 9.91 mm and at the end of the study, five patients had megaureter completely regressed, three patients had a diameter greater than 10mm at the end of the study and two faced a worsening evolution with sudden and complete renal damage on scintigraphic nephrogram, after recurrent pyelonephritis despite antibioprophylaxis. CONCLUSION: We recommend a careful watch-fulling of primary megaureters; mainly for those with recurrent infections and whenever the retrovesical ureter diameter exceeds 14 mm at first ultrasound.

[Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria]. / Une malformation vasculaire vésicale rare dans le cadre du syndrome de Protée.

Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi. Due to mosaic pattern of distribution, the phenotypes are variable and diverse. Vascular malformations are part of the major criteria used to define and diagnose this syndrome. It can involve the gastrointestinal tract, spleen, or the urinary tract but bladder malformations are rare. We report here a case of bladder vascular malformation in a 12-year-old boy known to have Proteus syndrome and review the literature on bladder malformations or tumors in this syndrome.

[Distal and late ureteral obstruction: a rare complication following dextranomer/hyaluronic acid injection for vesicoureteral reflux in children]. / L'obstruction urétérale distale secondaire : une complication rare du traitement endoscopique par Deflux(®) du reflux vésico-urétéral de l'enfant.

Surgically relevant obstruction after dextranomer/hyaluronic acid injection (Dx/Ha, Deflux(®)) for the treatment of vesicoureteral reflux (VUR) is rare with a 0.6% incidence. It occurs usually during the early postoperative period. We report here the case of a 9-year-old boy with a history of VUR who was previously treated with Deflux(®) and was referred more than 2 years later with acute flank pain (as he already did 2 weeks after surgery with a spontaneous relief under medical treatment). Initial radiological investigations showed hydronephrosis caused by distal ureteral obstruction which required open surgery removal of the Dx/Ha and Cohen procedure. This is the second case of delayed symptomatic obstruction due to Dx/Ha reported in the literature.

[Diffuse xanthogranulomatous pyelonephritis in infant]. / Pyélonéphrite xanthogranulomateuse diffuse du nourrisson.

We report a case of a renal mass in a 4-month boy, which occured during the assessment of a pelvi-calyceal dilatation diagnosed at 23 weeks of gestational age. There was no history of urinary infection, fever or weight loss. Physical examination revealed a mass of the left flank with significant flank tenderness. Laboratory test showed a biological inflammatory syndrome and urine culture was negative. Investigations including ultrasound and computed tomography scan were suggestive of diffuse xanthogranulomatous pyelonephritis with a non-functioning left kidney. Left total nephrectomy was performed through a lumbar incision with an extraperitoneal approach. The kidney was enlarged with a dilated pelvis containing pus upstream of a proximal ureteral atretic segment. Pathological examination of the kidney confirmed the diagnosis of diffuse xanthogranulomatous pyelonephritis. The boy remains well at 1 year follow-up. Xanthogranulomatous pyelonephritis is very rare in infants. It is an uncommon severe progressive renal infection resulting in destruction of renal parenchyma, histologically replaced by xanthomatous cells and granulomatous reaction. Pathogenesis of xanthogranulomatous pyelonephritis remains unclear. But it is well known that urinary tract obstruction and renal lithiasis are determining factors. It can occur in variant clinical forms but its symptoms remain non-specific. Curative treatment consists in nephrectomy and definitive diagnosis is made on histological examination of the kidney. This diagnosis should be discussed when a renal mass occurs in a context of malformative uropathy and xanthogranulomatous pyelonephritis have to be included in the differential diagnosis of renal mass in infants and children.

[Retrotracheal left pulmonary artery: case report with an embryologic and anatomic update]. / Artère pulmonaire gauche rétrotrachéale : mise au point embryologique et anatomique.

The accidental discovery of a retrotracheal left pulmonary artery in a 4-month-old infant encouraged us to review the various embryologic theories concerning this very rare anomaly and perform an anatomic update in order to better define surgical treatment. Nathan underwent surgery for a bilateral inguinal hernia at the age of 4 months. The postoperative period was marked by malaise associated with dyspnoea, stridor, tachycardia and sweating. A X-ray of the thorax, oesophageal transit and angio scan presented an intertracheo-oesophageal left pulmonary artery and a reimplantation of the left pulmonary artery was successfully performed. A retrotracheal left pulmonary artery is a very rare malformation. From development of pulmonary vascularisation, three embryologic theories have been advanced to explain this anomaly. From an anatomic point of view, Landing et al. proposed in 1982 a classification system of retrotracheal left pulmonary artery. Today, current radiological techniques not only provide a precise diagnosis but also make it possible to define appropriate care for the different types of this malformation.

[Abdominoscrotal hydrocele with leg edema in a 4-month-old boy]. / Hydrocèle abdomino-scrotale compliquée d'un lymphoedème de jambe chez un nourrisson.

We present a case of a 4-month-old boy with a right abdominoscrotal hydrocele associated to a compression of the femoral triangle, causing an unilateral leg edema. Abdominoscrotal ultrasound revealed a fluid collection with abdominal and scrotal components, communicating through the deep inguinal ring. Sagittal views of magnetic resonance imaging (MRI) showed a dumbbell-shaped hydrocele and the angio-MRI venous sequences confirmed the compression of the right iliac vessels. Curative treatment was surgical through an inguinal approach and consisted in high ligation of the processus vaginalis and hydrocelectomy. Abdominoscrotal hydrocele is an uncommon pathology, which rarely occurs in pediatric population. This diagnosis should be discussed when a cystic abdominal mass is associated to an ipsilateral scrotal hydrocele. The abdominal component of the hydrocele can result in compression of adjacent structures (iliac vessels, ureter). Surgical treatment is recommended. Epididymal and testicular abnormalities are frequently described, as in our observation, and the effects on the future fertility are unknown.

[Management of a perineal arteriovenous malformation in a 5-year-old child]. / Prise en charge d'une malformation artérioveineuse périnéale chez un enfant de 5 ans.

Arteriovenous malformations are seldom in children but raise important therapeutic problems. Apart from intracranial arteriovenous malformations, few observations have been described in the literature. We report the case of a superficial perineal arteriovenous malformation in a 5-year-old child. Tailored embolization followed shortly by thorough surgery is the best attitude. Surgery must totally eradicate the lesion to allow hope for a cure. Surgery should be reserved for forms that are extensive or a source of complications. Even total resection does not ensure non-recurrence.