We describe two patients with Pallister-Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. Nonsense mutations in GLI3 were identified in both patients. Clinical and molecular findings of 12 previously reported patients who had GLI3 mutations and genital abnormalities were reviewed. Genital features in the male patients included hypospadias, micropenis, and bifid or hypoplastic scrotum, whereas all the females had hydrometrocolpos and/or vaginal atresia. No hotspot for GLI3 mutations has been found. The urogenital and anorectal abnormalities associated with PHS might be related to dysregulation of SHH signaling caused by GLI3 mutations rather than hormonal aberrations. We recommend that clinical investigations of genital abnormalities are considered in patients with PHS, even those without hypopituitarism.

Wilms' tumor is a common pediatric malignant tumor, although extrarenal Wilms' tumor (ERWT) is an extremely rare malignancy. While the histological characteristics are the same as in renal Wilms' tumor, the tumor arises from outside the kidney. We experienced a case of ERWT that arose in the paratesticular region.A 7-month-old male infant was admitted to the Nagano Children's Hospital in Nagano, Japan, with a complaint of a right intrascrotal mass. The mass was walnut-sized and had an irregular surface. The right testis was palpated attached to the mass. Ultrasonography of the mass showed an irregular paratesticular solid mass, 2.5 cm in diameter, which had increased blood flow in it (Fig. 1a,b). Systemic examination did not show any other abnormality. Tumor markers (a-fetoprotein, b-subunit of human chorionic gonadotropin and lactate dehydrogenase) were within the normal range. A computed tomography scan of the abdomen showed normal bilateral kidneys. He had a radical orchiectomy with the diagnosis of a paratesticular malignant tumor, and the mass was easily removed. The cut surface of the tumor was milky white, and the mass separated from the testis and the epididymis. The tumor was not adherent to the testis and the epididymis; it also encapsulated a fibrous capsule. Histopathological examination showed the characteristics of Wilms' tumor exhibiting blastemal, stromal and epithelial elements. Some glomeruloid and tubular structures were scattered in the subcapsular area adjacent to the blastema. The features of anaplasia were not shown. Immunohistochemistry showed epithelial membrane antigen was positive in the tubular structure and Vimentin was positive in the stroma. The boy did not receive any adjuvant therapy, and he was alive and disease free at the end of 36 months of follow up.ERWT accounts for just 3% of Wilms' tumors. Approximately 100 well-documented cases have been reported. ERWT arises in the retroperitoneal cavity, 1 the uterus, the pelvis, the thorax and the inguinal region, along the line of the spermatic cord. Just three cases of paratesticular ERWT have been reported. 2 The origin of ERWT remains unclear. The genital and urinary structures are in close proximity

Purpose: Diffusion-weighted (DW) magnetic resonance imaging (MRI) provides information about the biophysical properties of tissues such as cell organization and density. DW imaging (DWI) is becoming important in the assessment of malignant tumors. The purpose of our study was to evaluate the capability and reliability of DWI in the evaluation of upper urinary tract urothelial tumors. Materials and Methods: DWI was performed in seventeen patients with upper urinary tract urothelial tumor, previously diagnosed by either CT or retrograde pyelography. An histological evaluation was performed after surgical resection. Each MRI was carried out using a 1.5T superconductive magnet MRI system. DWI images were obtained with b value of 1000 s/mm 2 under normal breathing. The apparent diffusion coefficient (ADC) values were measured. Results: In nine patients with renal pelvis tumors and seven patients with ureteral tumors, the lesions were shown as high-signal intensity in the corresponding region on DWI. In one patient with carcinoma in situ (CIS) of the ureter, the lesion was not depicted with DWI. The mean ADC value of the tumor was 1.125 ± 0.217 x 10 -3 mm 2 /s and was significantly lower than those of the renal parenchyma (1.984 ± 0.238 x 10 -3 mm 2 /s, p < 0.01) and the urine (2.941 ± 0.315 x 10 -3 mm 2 /s, p < 0.01). Conclusions: In our study, the renal pelvic and ureteral tumors except CIS were shown clearly with DWI. Although further studies are required, DWI may take the place of invasive retrograde urography for detecting tumors of the upper urinary tract.

The incidence of viable testicular tissue in vanishing testes was 4.7% in our series and it ranges from 0-16% in other series. We submit that one can diagnose the inguinal vanishing testis with preoperative imaging and laparoscopy, and that the nubbin seldom contains testicular tissue. Our results do not support the necessity to remove nubbins.

Abstract:We report a case of bladder leiomyosarcoma in a 27-year-old woman who had previously been treated with surgery and radiation for bilateral retinoblastoma. The patient was admitted to hospital with discomfort on micturition. Cystoscopy revealed a bladder tumor covered by normal urothelium. Transurethral resection of the bladder tumor was performed , and the histopathological diagnosis was leiomyosarcoma. Partial cystectomy was performed. The leiomyosarcoma of the bladder did not invade the muscle layer. However, bladder tumors recurred at new intravesical locations repeatedly. After transurethral resection of the bladder tumor had been performed twice, total cystectomy and creation of an ileal conduit were performed.