Table 1.

Patients detected with mutations at the PTEN R130 site

Patient	Age	BMI	Chief complaint at presentation	Final pathology	Gene—PTEN				PTEN detection status in lavage		Follow-up period
					Chromosome: position	CDS change	AA change	dbSNP	Cell pellet (AF)	cfDNA (AF)
1	67	34	Pelvic pain; abnormal uterine sonogram detected as an incidental finding during workup for renal stone	Initial presentation: benign endometrium with no evidence of hyperplasia or cancer	10:87933147-87933147	c.388C>G	R130G	121909224	+(1.3%)	-	14 mo
				On return: single microscopic focus of FIGO grade 1, stage IA endometrioid endometrial adenocarcinoma
2	67	39	Postmenopausal bleeding; thickened endometrium detected on sonogram	FIGO grade 3, stage IA endometrioid endometrial adenocarcinoma; mixed type histology	10:87933148-87933148	c.389G>A	R130Q	121909229	+(21.9%)	+(38.8%)	NA
3	51	22	Postmenopausal bleeding	Proliferative endometrium with polypoid fragments and glandular/stromal breakdown	10:87933147-87933147	c.388C>G	R130G	121909224	+(2.4%)	-	30 mo
4	37	34	Dysmenorrhea; endometriosis	Proliferative endometrium; bilateral benign endometriotic cysts; pelvic peritoneum and uterosacral ligament biopsies showing endometriosis	10:87933148-87933148	c.389G>A	R130Q	121909229	+(1.3%)	-	26 mo
5	47	23	Postmenopausal bleeding; endometriosis	Benign endometrium, superficial adenomyosis, early secretory endometrium	10:87933147-87933147	c.388C>G	R130G	121909224	+(1.6%)	-	26 mo
6	41	19	Abnormal uterine bleeding; polyp on sonogram	Polyp with proliferative glands and focal simple hyperplasia without atypia, proliferative endometrium	10:87933147-87933147	c.388C>T	R130*	121909224	-	+(1.7%)	26 mo

BMI, body mass index; dbSNP, Single Nucleotide Polymorphism database; AF, allele frequency; NA, not available; FIGO, International Federation of Gynecology and Obstetrics.