Cholangiocarcinoma in a 17-year-old boy with primary sclerosing cholangitis and UroVysion (TM) fluorescent in situ hybridization

Department of Pathology, University of Utah, Salt Lake City, UT, USA.
Diagnostic Cytopathology (Impact Factor: 1.12). 04/2012; 40(4):337-41. DOI: 10.1002/dc.21629
Source: PubMed


Primary sclerosing cholangitis (PSC) is uncommon in the younger age range and bile duct brushing cytology can present unique challenges. We describe the case of a 17-year-old boy with a new diagnosis of PSC who presented with cholangiocarcinoma. The clinical history, endoscopic features, cytomorphologic findings, and results of UroVysion™ fluorescent in situ hybridization (FISH) on the bile duct brush are described. UroVysion FISH on bile duct brushings is an ancillary study that can improve the diagnostic sensitivity for malignancy, specially in challenging cases where the cytomorphologic or clinical characteristics of the case are not typical. The occurrence of cholangiocarcinoma in young age group with PSC is uncommon, and the utilization of UroVysion FISH has been rarely described.

6 Reads
  • [Show abstract] [Hide abstract]
    ABSTRACT: The detection of aneuploidy by fluorescence in situ hybridization (FISH) has revolutionized how laboratories diagnose cholangiocarcinoma and pancreatic adenocarcinoma using cytology specimens. Numerous clinical studies have demonstrated that FISH increases the diagnostic sensitivity of routine cytology for detecting pancreatobiliary tract malignancy with minimal decreases in clinical specificity. FISH also provides useful information in difficult clinical scenarios, including the assessment of patients with biliary strictures who have equivocal cytology results and the assessment of patients with primary sclerosing cholangitis who have clinical features suggestive of malignancy. The improved ability to detect pancreatobiliary tract cancers offers the possibility of earlier detection when patients are amenable to surgical intervention and can decrease health care costs by reducing the amount of clinical evaluation required to arrive at a cancer diagnosis. Cytopathology personnel should maintain familiarity with molecular cytology testing methodologies, because morphologic and aneuploidy assessment of tumors will continue to be an integral part of large-scale genome analyses of individual tumors. Cancer (Cancer Cytopathol) 2013;. © 2013 American Cancer Society.
    No preview · Article · Apr 2013 · Cancer Cytopathology
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Cholangiocarcinoma (CCA) is the second most common primary hepatic malignancy worldwide. The incidence of intrahepatic CCA is increasing, whereas that of extrahepatic CCA is decreasing. This review looks at the new advances that have been made in the management of CCA, based on a PubMed and Science Citation Index search of results from randomized controlled trials, reviews, and cohort, prospective and retrospective studies. Aggressive interventional approaches and new histopathological techniques have been developed to make a histological diagnosis in patients with high risk factors or suspected CCA. Resectability of the tumour can now be assessed using multiple radiological imaging studies; the main prognostic factor after surgery is a histologically negative resection margin. Biliary drainage and/or portal vein embolization may be performed before extended radical resection, or liver transplantation may be undertaken in combination with neoadjuvant chemotherapy or chemoradiotherapy. Though many advances have been made in the management of CCA, the standard modality of treatment has not yet been established. This review focuses on the clinical options for different stages of CCA.
    Preview · Article · Dec 2013 · The Journal of international medical research
  • [Show abstract] [Hide abstract]
    ABSTRACT: Cancer genomes contain numerical and structural somatic alterations, including single base substitutions, structural rearrangements, small insertions, small deletions, and copy number variation [1, 2]. Theodor Boveri, a German zoologist, is credited for first describing the association between numerical chromosome anomalies and cancer in his 1914 monograph Concerning the Origin of Malignant Tumours [1]. Nearly a century has passed since this sentinel paper and cancer biologists are still trying to better understand aneuploidy and its role in carcinogenesis. Recent large-scale DNA copy number analyses of tumors highlight how common aneuploidy is in malignant tumors. Beroukhim and colleagues [2] evaluated 3,131 tumors comprising 26 different tumor types and identified, on average, 24 gains (median = 12) and 18 losses (median 12) for each tumor. In addition, approximately 17 % of the genome was amplified and 16 % was deleted in a typical cancer specimen.
    No preview · Chapter · Jan 2014
Show more