FREQUENCY OF CDH1 GERMLINE MUTATION IN PATIENTS WITH GASTRIC CARCINOMA PRESENTING AT JINNAH POSTGRADUATE MEDICAL CENTRE, KARACHI

Abstract

Objective: To determine the frequency of germline CDH1 mutation among patients with histopathologically confirmed gastric carcinoma presenting to Jinnah Postgraduate Medical Centre (JPMC), Karachi.

Study Design: Descriptive cross-sectional study.

Setting: Department of Surgery, Unit II, JPMC, Karachi.

Period: Insert actual study start and end dates.

Material & Methods: This study included 40 participants with confirmed, untreated gastric carcinoma. Personal demographic information, tumor specifics, family history, and CDH1 data were all recorded. The methods of peripheral-blood PCR and sequencing require both laboratory and assay validation. Categorical data were reported as n (%); age was reported as mean ± standard deviation, and mutation frequency as an exact 95% confidence interval. Sparse 2×2 table comparisons were made using Fisher's exact test.

Results: The mean age was 52.3 ± 13.1; 21 (52.5%) were male. Intestinal, diffuse, and mixed study histology was represented by 24 (60.0%), 14 (35.0%), and 2 (5.0%) cases, respectively. The most frequent stage of gastric carcinoma was Stage III (n=19; 47.5%). CDH1 was recorded as positive in one of the 40 records (2.5%; exact 95% CI 0.1%-13.2%). This one positive record was a case of diffuse, Stage II gastric carcinoma in a 39-year-old woman with a family history of diffuse gastric carcinoma and breast carcinoma. Investigations of age, sex, and family history as modifiers were all non-significant (all Fisher's exact p>0.05).

Conclusion: The result provided a low and imprecise CDH1 frequency.