A 50-year-old woman who was obese and hypertensive, came with complaints of bleeding and abdomen pain, diagnosed to be endometrial cancer. Which of the following gene is mutated?
P53
PTEN
Beta catenin
CHD4
Ans: (b) PTENRef: WHO, FGT, Page 29-34Going with PTEN because it's the most common one mutated (Ref: WHO - >50%). P53 mutation is seen only in type 2 carcinomas, incidence of which is less. PTEN is seen in both type 1 and type 2 carcinomas.FeaturesType 1Type 2Prototypic formEndometrioid carcinomaUterine (papillary) serous carcinomaTypical patientPerimenopausal or early postmenopausal womenElderly women Background of endometrial hyperplasiaBackground of atrophic endometrium Low-gradeHigh-grade Estrogen-dependentNot estrogen-dependentEstrogen receptorUsually positive; high grade cases may be negativeNegativeMIB1 proliferation index (ki-67)LowHighp53Negative; high grade cases may be positiveDiffuse positivity
Carcinoma Endometrium