EVALUATION OF CLINICAL UTILITY OF DETECTING CIRCULATING TUMOR DNA MUTATION GENE LOCUS TP53 RS28934571 USING REAL TIME PCR AND DROPLET DIGITAL PCR IN EGYPTIAN HEPATOCELLULAR CARCINOMA PATIENTS

Authors

Department of Tropical Medicine, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt

Abstract

Liver cancer has been known to be the sixth cause of cancer worldwide. In Egypt, it is the
fourth cause of cancer and the second -related mortality. The P53 is considered the guardian of
the genome to prevent accumulation of oncogenic mutations that lead to malignant tumor.
The study compared the circulating tumor DNA (ctDNA) by targeting hotspot mutation gene
locus TP53 rs28934571 (c.747G>T) in normal persons, chronic liver disease patients, and in
hepatocellular carcinoma (HCC) ones to evaluate its diagnostic value and analyses the ctDNA
by targeting the hotspot mutation gene locus TP53 rs28934571 (c.747G>T).
The results showed that of 100 adults, G1: Eighty (80%) patients were diagnosed as HCC on
top of HCV, ten (10%) as HCV patients and ten (10%) healthy controls. All groups were matched
as to age and sex. The AST was increased in HCC patients as compared to healthy control
(P =0.018), forty patients (50%) were within Milan criteria, 12 patients (15%) within
USCF, 28 (35%) were beyond all of whom 39 (48.75%) patients were child A with mean
score of 12.45±5.94. Forty (50%) patients had one focal lesion, 16 patients had two focal lesions,
eight patients had four focal lesions and six patients had multiple lesions. The average
size of lesion in cm was (5.58±3.66). Among the HCC patients 38 (47.5%) patients developed
ascites, 35 (43.75%) patients developed PVT and 9 (11.25%) patients developed encephalopathy.
There was no significant difference in genetic typing between HCC patients, HCV ones
and healthy controls (p =0.622).

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