Pathologists’ overview of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome

PTEN hamartoma tumour syndrome (PHTS) is a rare cancer predisposition syndrome, caused chiefly by pathogenic and likely (P/LP) variants in the gene. The rarity of this disease, involvement multiple sites absence pathognomonic features hamper early diagnosis, limiting opportunities for screening. We wondered whether PHTS patients’ prior biopsies may provide clues to syndrome. With ethics approval, through collaboration with our state-wide Adult Genetics Unit, we undertook 28-year survey (1990–2018) 12 women known have P/LP variants. One woman had family history PHTS. earliest biopsy was at age 19. Multiple benign mucocutanous lesions affected 10 women, including vascular lesions: eight patients, fibromatous skin mucosal six one ganglioneuroma juvenile polyp. Ten developed breast cancer, four under 40 years. Five second two synchronously three interval 3–11 Other neoplasms included endometrial carcinoma patients dysplastic cerebellar gangliocytoma patients. Overview histories variant carriers be clue so clinical genetic counselling evaluation considered.