[Pediatric Multiple Endocrine Neoplasia Type 2B with Pheochromocytoma Diagnosed after Perforation of a Colonic Diverticulum : A Case Report].

A 12-year-old girl was found to have decending colon diverticulum perforation and retroperitoneal abscess on computed tomography (CT) carried out to determine the cause of fever and stomachache. CT-guided drainage tube placement was performed. She was suspected of having MEN2B from her specific facial appearance, Marfan-like body shape and lingual mucosa neuroma. Cervical ultrasonography and serum tumor marker revealed medullary thyroid carcinoma and metastasis to cervical lymph node. Genetic examination revealed a mutation of RET gene codon 918. Therefore, she was diagnosed as having MEN2B. Laboratory data showed elevated urinary catecholamines. Metaiodobenzylguanidine (MIBG) adrenal scintigraphy showed bilateral adrenal uptake and a definitive diagnosis of bilateral adrenal pheochromocytomas was made. Discharge from the drainage tube persisted and it was difficult to continue conservative treatment. Therefore, laparoscopic bilateral adrenalectomy and transverse colon colostomy were performed. Subsequently, total thyroidectomy and cervical lymph node dissection were performed. At five years of follow up, bilateral lung metastases were observed, but the serum calcitonin level was normal and the patient is under observation.

[Urothelial carcinoma of ureter with neuroendocrine differentiation: a case report].

A 73-year-old woman complained of gross hematuria. Urine cytology showed small cell carcinoma (SmCC) cells mixed with urothelial carcinoma (UC) cells. Cystoscopy revealed a bladder tumor around the right ureteral orifice. Abdominal CT demonstrated severe right hydronephrosis. Pelvic MRI showed a mass (approximately phi5 cm) in the urinary bladder wall that protruded into the lumen. TUR biopsy of the bladder tumor was SmCC. With laparoscopic nephrectomy/open ureterectomy, distal end (approximately 10 cm) of the right ureter was tumorous and obstructed. The tumor invaded into the urinary bladder/peritoneum and was unresectable. The tumor of lower-end of ureter tumor was SmCC, showing neuroendocrine differentiation such as pseudo-rosette, positive Grimelius stain, and chromogranin A/NCAM/synaptophysin immunostaining. Proximal to this tumor, non-invasive UC spread superficially over entire length of the ureter to the renal pelvis. Abrupt transition from invasive SmCC to non-invasive UC was observed in the middle of the ureter. Post-operative adjuvant chemotherapy was discouraged due to senile dementia of the patient. The patient died nine months after the operation because of systemic progression of cancer.