NEET PG Medical – 2018 – Question – 38
Cowden syndrome
a) P53
b) PTEN
c) Rb
d) Ras
Show Answer
Correct Answer – B
Answer: B. PTEN
“Phosphatase and Tensin” homolog (PTEN)– protein in humans encoded by the PTEN gene. Gene mutations promotes development of cancers.
Cowden’s disease / Multiple Hamartoma Syndrome –
- Part of PTEN hamartoma tumor syndrome
- An autosomal dominant syndrome
- Trichilemmomas – Numerous tumors of hair follicles in face
- Multiple hamartomatous polyps in GI tract.
- Very high risk of breast & thyroid carcinoma
Treatment: - B/L mastectomies recommended
- Contraindicated are mammography & other radiation exposure of breast tissue
