RT Journal Article
SR Electronic
T1 Development of a genomic predictive model for cholangiocarcinoma using copy number alteration data
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 274
OP 278
DO 10.1136/jclinpath-2020-207346
VO 75
IS 4
A1 Tavares, Inês
A1 Martins, Ricardo
A1 Ribeiro, Ilda Patrícia
A1 Esteves, Luísa
A1 Caramelo, Francisco
A1 Abrantes, Ana Margarida
A1 Neves, Rita
A1 Caetano-Oliveira, Rui
A1 Botelho, Maria Filomena
A1 Barbosa de Melo, Joana
A1 Diogo, Dulce
A1 Tralhão, José Guilherme
A1 Carreira, Isabel Marques
YR 2022
UL http://jcp.bmj.com/content/75/4/274.abstract
AB Aims Cholangiocarcinoma (CC) is a rare tumour arising from the biliary tract epithelium. The aim of this study was to perform a genomic characterisation of CC tumours and to implement a model to differentiate extrahepatic (ECC) and intrahepatic (ICC) cholangiocarcinoma.Methods DNA extracted from tumour samples of 23 patients with CC, namely 10 patients with ECC and 13 patients with ICC, was analysed by array comparative genomic hybridisation. A support vector machine algorithm for classification was applied to the genomic data to distinguish between ICC and ECC. A survival analysis comparing both groups of patients was also performed.Results With these whole genome results, we observed several common alterations between tumour samples of the same CC anatomical type, namely gain of Xp and loss of 3p, 11q11, 14q, 16q, Yp and Yq in ICC tumours, and gain of 16p25.3 and loss of 3q26.1, 6p25.3–22.3, 12p13.31, 17p, 18q and Yp in ECC tumours. Gain of 2q37.3 was observed in the samples of both tumour subtypes, ICC and ECC. The developed genomic model comprised four chromosomal regions that seem to enable the distinction between ICC and ECC, with an accuracy of 71.43% (95% CI 43% to 100%). Survival analysis revealed that in our cohort, patients with ECC survived on average 8 months less than patients with ICC.Conclusions This genomic characterisation and the introduction of genomic models to clinical practice could be important for patient management and for the development of targeted therapies. The power of this genomic model should be evaluated in other CC populations.