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Urothelial carcinoma of the urinary bladder in a 12-year-old girl: A case report with immunohistological analysis and a review of the literature.

ABSTRACT: Urothelial carcinoma of the bladder in childhood is extremely rare. We report on a 12-year-old girl with urothelial carcinoma of the bladder who presented with gross hematuria. Immunohistochemical staining showed normal levels of cytokeratin 20 expression and decreased levels of Ki67 and p53 expression. Human papillomavirus, which can be a cause of urothelial carcinoma of the bladder, was not detected by polymerase chain reaction. We reviewed the literature focusing on diagnostic tools for urothelial carcinoma of the bladder and determined that abdominal ultrasonography, with an extremely high sensitivity of 98%, could be a useful tool for postoperative follow-up in childhood.

SUBMITTER: Kato T

PROVIDER: S-EPMC5849885 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Urothelial carcinoma of the urinary bladder in a 12-year-old girl: A case report with immunohistological analysis and a review of the literature.

Kato Taiki T Mizuno Kentaro K Naiki Taku T Nishio Hidenori H Iida Keitaro K Moritoki Yoshinobu Y Ando Ryosuke R Okada Atsushi A Yasui Takahiro T Hayashi Yutaro Y

Urology case reports 20171221

Urothelial carcinoma of the bladder in childhood is extremely rare. We report on a 12-year-old girl with urothelial carcinoma of the bladder who presented with gross hematuria. Immunohistochemical staining showed normal levels of cytokeratin 20 expression and decreased levels of Ki67 and p53 expression. Human papillomavirus, which can be a cause of urothelial carcinoma of the bladder, was not detected by polymerase chain reaction. We reviewed the literature focusing on diagnostic tools for uroth ...[more]

PMID: 29541581

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Project description:BackgroundAbernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.Case summaryA 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis, and chest computed tomography (CT) showed bronchiectasis. Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin). CF was diagnosed. The physician's attention was drawn to the presence of splenomegaly during disease progression. Abdominal enhanced CT revealed splenomegaly, compression of the left kidney, and multiple tortuous dilated vascular shadows were seen at the splenic hilum, which flowed back into the left renal vein and portal vein, suggesting Abernethy malformation type II. Intraoperatively, the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing, and the pathology of liver biopsy showed hypoplastic, dilated or absent portal vein branches, both of which supported the diagnosis of Abernethy malformation type II. This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.ConclusionCoexisting Abernethy malformation and CF are rare. Detailed medical history information, abdominal enhanced CT, venography and genetic testing contribute to diagnosis as well as differential diagnosis.

Dataset Information

Urothelial carcinoma of the urinary bladder in a 12-year-old girl: A case report with immunohistological analysis and a review of the literature.

Publications

Urothelial carcinoma of the urinary bladder in a 12-year-old girl: A case report with immunohistological analysis and a review of the literature.

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