Pediatric Rectosigmoid Atypical Juvenile Polyps Presenting With Rectal Prolapse and Acute Bleeding: A Case Report and a Comprehensive Literature Review.

Rectosigmoid solitary juvenile polyps are benign lesions, relatively frequent in childhood. The clinical debut of a pediatric polyp with bleeding is relatively frequent, but there are very few reports of rectal prolapse of polyps. We present the case of a 7-year-old female patient with no previous history who presented with rectal prolapse of a polyp with acute bleeding. An urgent endoscopic examination was performed and 2 rectosigmoid polypoid lesions were found and resected. The anatomopathological study showed that these were 2 hamartomatous polyps with mild dysplasia. The patient is asymptomatic and is being followed up. The literature concerning rectal prolapse of polyps in the pediatric population is scarce. In a pediatric patient with a rectal prolapse, this entity should be considered in the differential diagnosis.

A type primary amyloidosis of the urinary bladder: Clinical case and bibliographic review.

OBJECTIVE: Amyloidosis is a disease characterised by deposition of eosinophilic hyaline material in different tissues. Urinary bladder involvement is uncommon with less than 200 cases of the primary form published in the literature. We present a new case of primary AA type amyloidosis of the urinary bladder (typical of secondary forms). METHODS: A 66-year-old male was seen in the outpatient urology consultation with several-weeks history intermittent haematuria with decreased voiding urinary calibre. In addition, he had intense nocturia, 10-12 times per night, and occasional urgency. Physical examination of the abdomen and genitals was unremarkable. Urine sediment and blood tests were normal. Urine cytology studies were requested and revealed urothelial cells with no atypical cells and a moderate quantity of neutrophils and erythrocytes. Cystoscopy was performed and revealed yellowish erythematous lesions at the level of the vesicoureteric junction and the fundus. The lesions were biopsied. Pathology studies revealed urothelial mucosa with marked chronic inflammation and accumulations of amyloid-appearing hyaline material in the area of the vessels with green birefringence on polarised light. TUR of the bladder was later performed with the goal of completely resecting the lesion. The result of the pathology studies confirmed the biopsy findings and immunohistochemistry studies revealed AA type amyloid (typical of secondary forms). RESULTS: Two years after the intervention, the patient remains asymptomatic with normal endoscopic follow-up studies. CONCLUSIONS: Primary AA type amyloidosis of the bladder is a very uncommon pathology with few cases reported in the international urology literature. Nevertheless, we must keep it in mind in the differential diagnosis when faced with a patient with haematuria and/or persistent urinary symptoms.

Pediatric Vulvar Superficial Angiomyxoma: A Case Report With Clinical, Radiological, and Anatomopathological Characterization and a Comprehensive Review of the Literature.

Superficial angiomyxoma is characterized as a benign, slow-growing vascular cutaneous myxoma. A 6-year-old Arab girl with no medical history presented with a vulvar tumor located on the left labia majora. The lesion was present since birth, but it had significantly increased over the last 6 months. She did not have any associated symptoms. Physical examination revealed an exophytic tumor of the left labia majora, which measured 5 cm in its major axis. Doppler ultrasound study showed a mass with abundant arterial and venous vascularization, and magnetic resonance imaging showed a highly vascular contrast-enhanced mass with well-delimited margins, which depended on the labia majora. A macroscopically complete resection was performed, achieving a tension-free primary closure. Histologically, the lesion was characterized as a well-demarcated superficial tumor with thin-walled vessels and myxoid stroma, S100 (-), CD34 (+), vimentin (+), and actin (+). The final histopathological diagnosis was superficial angiomyxoma. The literature review of this entity in the pediatric population shows a predominance of this lesion in the vulvar location. Local recurrence has been described. Loss of PRKAR1A expression may be involved in the pathogenesis of superficial angiomyxoma.

Gastric-phenotype Mucinous Carcinoma of the Fallopian Tube with Secondary Ovarian Involvement in a Woman with Peutz-Jeghers Syndrome: A Case Report.

Peutz-Jeghers syndrome is an autosomal dominant condition characterized by the association of hamartomatous polyps in the digestive tract, mucocutaneous pigmentation, family history, and infrequently tumors of the female genital tract with one of the most characteristic being the gastric-type endocervical adenocarcinoma. We present the case of a 75-year-old woman with a history of gastrointestinal polyps and cancer of the pancreas and breast, diagnosed with Peutz-Jeghers syndrome, who clinically debuted with a primary adnexal tumor. However, on histologic examination it was found to be a gastric-phenotype primary mucinous carcinoma tubal in origin, associated to tubal mucinous metaplasia and secondary ovarian involvement. One of her daughters had a confirmed genetic diagnosis of Peutz-Jeghers syndrome and presented with mucinous metaplasia of the tubal mucosa in the pathological study of a prophylactic hysterectomy specimen. Another of her daughters died from an ovarian juvenile granulosa cell tumor, she did not have a genetic diagnosis of Peutz-Jeghers syndrome. This case intends to highlight the rarity of gastrointestinal-type mucinous carcinomas of the ovary and fallopian tube (similar to gastric-type endocervical adenocarcinoma) in Peutz-Jeghers syndrome and emphasize the importance of genetic counseling of these patients as well as the adequate sampling of surgical specimens for early detection and treatment.

Superior Vesical Fissure as an Incomplete Form of Bladder Exstrophy: A Case Report with Clinico-Pathological Correlation and a Comprehensive Literature Review.

Multiple variants of classic bladder exstrophy have been described, all of them infrequent. Superior vesical fissure is a mild variant of this pathology in which genital involvement is scarce or absent. To date, there are only isolated reports of this entity. We report a full-term female patient of Arabian descent with a clinical and radiological diagnosis of superior vesical fissure that was surgically corrected in our center with a favorable evolution. Histological study, supported by immunohistochemical techniques, showed squamous and transitional epithelium and discrete chronic inflammation. Our literature review identified 26 reports of superior vesical fissure (including ours), with high heterogeneity in terms of clinical characterization and associated malformations and with only two histological reports. The clinical evolution of the patients reported in the literature was favorable, with lower morbidity and mortality than in classical forms of bladder exstrophy.

Congenital Prepubic Sinus as a Variant of Incomplete Urethral Dorsal Duplication: A Case Report with New Insights into its Immunohistochemical Characterization and a Comprehensive Literature Review.

Congenital prepubic sinus (PS) is an extremely infrequent malformation consisting of a prepubic fistulous tract that classically does not communicate with the genitourinary system. Previous studies centered on its immunohistochemical characterization have shown inconsistent results, and the etiology has not been clarified. We present the case of a 2-year-old male who presented since birth with a fistulous orifice on the dorsum of the penis. He had no associated symptoms. Under general anesthesia, the fistulous tract was explored, and methylene blue was instilled through it. After cystoscopically verifying the absence of communication with the urethra, a complete resection of the lesion was performed. The immunohistochemical study showed positivity for low and high molecular weight keratins and a transitional pattern for keratin 7 and GATA3, with positivity at cul de sac level and negativity at proximal level. These findings suggest that this lesion is an incomplete dorsal duplication variant.

Sentinel node tumor burden in cutaneous melanoma. Survival with competing risk analysis and influence in relapses and non-sentinel node status: retrospective cohort study with long follow-up in a Spanish population.

Several authors have studied the potential of sentinel lymph node (SLN) tumor burden as prognostic factor but the microscopic classifications used in different study groups were variable. We examined the prognostic role of tumor burden in SLN on melanoma specific-survival and competing causes of death. We also analysed clinical and histological factors as predictors of disease relapses and additional non sentinel lymph node (NSLN) metastases. We included all patients with cutaneous melanoma that underwent SLN biopsy between 2002 and 2012 at Complejo Hospitalario de Navarra (Spain). The study end-points were death due to melanoma, melanoma relapse and involvement of NSLN. We used Fine-Gray test for competing risk analysis. A logistic regression model was performed to predict the risk of involvement of NSLN. Between 2002 and 2012, there were 348 patients who underwent SLN biopsy in our centre (308 were eligible for the study). 26.9% patients positive SLN. 88 patients died during the follow-up period and 66 (75%) died from melanoma. The 5-year cumulative incidence of melanoma death was 15.33% (95 % CI 15.25-15.42). The cumulative probability of death from melanoma was associated with gender, histological subtype, Breslow thickness, mitotic rate, ulceration and SLN tumor burden. In multivariable analysis, Breslow thickness and SLN tumor burden remained as independent prognostic factors. SLN tumor burden appears to be an important prognostic factor. It is very important reporting these characteristics in pathological reports. More prospective studies would be necessary to analyze these variables and to be able to make recommendations in management of melanoma patients.

Crossed Testicular Ectopia: Report of Two Cases in Children of Consanguineous Parents.

Crossed testicular ectopia (CTE) is an extremely rare anomaly of urogenital development. The etiopathogenic mechanism is unknown. Medical records of two biological siblings with a confirmed diagnosis of CTE being managed at our center were collected. The first patient was born with a non-palpable left testis. An exploratory laparoscopy was performed and a CTE was found. The second patient had an incarcerated left inguinal hernia and a mesopenile hypospadias. During surgery a CTE was observed. The parents were consanguineous. This is the first reported case of CTE in siblings.

[Malacoplakia of the testis: a new case report and a literature review]. / Malacoplaquia testicular: aportación de un nuevo caso y revisión de la literatura científica.

Malakoplakia is a uncommon chronic granulomatous condition of a benign nature preferentially occurring in the genitourinary tract. Testes are affected in 12% of cases, and the first case of testicular malakoplakia was reported in 1958. Forty cases have been reported worldwide since that date. We report a new case of testicular and epididymal malakoplakia in a 68-year-old male patient diagnosed of complicated orchiepididymitis who underwent orchidectomy to rule out a malignant tumor. The histopathological study demonstrated a chronic inflammatory infiltrate with histiocytes with an eosinophilic cytoplasm containing the characteristic Michaelis-Gutmann bodies diagnostic of malakoplakia. In connection with this new case and because of its unusual presentation, the literature on testicular malakoplakia is reviewed.

Description of the EuroTARGET cohort: A European collaborative project on TArgeted therapy in renal cell cancer-GEnetic- and tumor-related biomarkers for response and toxicity.

OBJECTIVE: For patients with metastatic renal cell cancer (mRCC), treatment choice is mainly based on clinical parameters. With many treatments available and the limited response to treatment and associated toxicities, there is much interest in identifying better biomarkers for personalized treatment. EuroTARGET aims to identify and characterize host- and tumor-related biomarkers for prediction of response to tyrosine kinase inhibitor therapy in mRCC. Here, we describe the EuroTARGET mRCC patient cohort. METHODS AND MATERIALS: EuroTARGET is a European collaborative project designed as an observational study for which patients with mRCC were recruited prospectively in 62 centers. In addition, 462 patients with mRCC from previous studies were included. Detailed clinical information (baseline and follow-up) from all patients was entered in web-based case record forms. Blood was collected for germline DNA and pharmacokinetic/pharmacodynamic analyses and, where available, fresh-frozen tumor material was collected to perform tumor DNA, RNA, kinome, and methylome analyses. RESULTS: In total, 1,210 patients with mRCC were included. Of these, 920 received a tyrosine kinase inhibitor as first-line targeted treatment (sunitinib [N = 713, 78%], sorafenib [N = 41, 4%], or pazopanib [N = 166, 18%]) and had at least 6 months of outcome assessment (median follow-up 15.3 months [interquartile range: 8.5-30.2 months]). Germline DNA samples were available from 824 of these patients, fresh-frozen tumor material from 142 patients, fresh-frozen normal kidney tissue from 95 patients, and tissue microarrays created from formalin-fixed paraffin-embedded tumor material from 247 patients. Of the 920 patients, germline DNA variant chip data were successfully generated for 811 patients (Illumina HumanOmniExpress BeadChip). For 80 patients, next-generation exome sequencing of germline and tumor DNA was performed, tumor RNA sequencing was performed for 124 patients, kinome activity measured and processed for 121 patients (PamChip), and methylome data (Illumina Infinium HumanMethylation450 BeadChip) were created for 116 RCC tissues (and 23 normal kidney tissues). For 73 out of the 920 patients, all platform data types were generated. In addition, 40 patients were included in a pharmacokinetic/pharmacodynamic phase IV substudy. CONCLUSIONS: Analysis of EuroTARGET cohort data will contribute to personalization of therapy for patients with mRCC. The extensive clinical data and multiplatform EuroTARGET data will be freely available.

[Collecting duct (Bellini) carcinoma]. / Carcinoma de ductos colectores de Bellini.

OBJECTIVES: To report one case of collecting duct (Bellini) carcinoma and to review the national bibliography. To analyze the clinical, diagnostic, and therapeutic features of this malignant renal tumor. METHODS/RESULTS: A 36-year-old male presenting with monosymptomatic hematuria and clot retention was diagnosed of left renal mass suggestive of renal carcinoma. Radical nephrectomy with interaortocaval lymphadenectomy through an "L" abdominal incision (inverted Makuuchi) and postoperative radiotherapy were carried out. The pathologic report showed a collecting duct (Bellini) carcinoma. The patient died 34 months after surgery, having been treated with two courses of chemotherapy and palliative vertebral radiotherapy. CONCLUSIONS: The collecting duct (Bellini) carcinoma is an infrequent malignant renal tumor. It does not differ from the clear cell adenocarcinoma either clinically or epidemiologically. However, it presents its own embryological, pathologic, immunohistochemical, and cytogenetic characteristics. Radical nephrectomy is the treatment of choice. Prognosis is ominous because of the aggressive behaviour and diagnosis in advanced stages.