TABLE 1.

Patient characteristics in PTEN mosaicism

PMID	CHOP case 1	UPenn case 2	Gammon et al. 23240978	Pritchard et al. 23619277	Salo-Mullen et al. 24609522	Golas et al. 31062505	Golas et al. 31062505	Goldenberg et al. 31796102	Rofes et al. 35102303
PTEN variant	c.1003C>T, p.R335*	c.697C>T, p.R233*	c.966_967delinsG, p.Asn323Metfs*21	c.767_768del, p.Glu256Valfs*41	Partial deletion (exons 6-9)	10q23.1q23.3 del (6 Mb)	10q23.1q23.3 del (4.4 Mb)	c.970dup, p.(Asp324Glyfs*3)	c.331T>C, p.(Trp111Arg)
Blood VAF	20%	5.6%	<10%	1.7%	~47%	Not reported	<10%	3.5%	22.5%
Tumor VAF	49%	45%	N/A	~50% (dysplastic gangliocytoma)				30% (glioneuronal hamartoma)	N/A *sperm 5.7%
Age at evaluation (years)	3	41	20	40	43	16	15	11	53
Family history		Son with known PHTS	Daughter: CS, thyroid goiter Mother: endometrial cancer Father: melanoma	No	Nephew: macrocephaly, speech delay Aunt: breast cancer	Mother: colorectal polyps Paternal grandfather: colorectal polyps	Paternal grandmother: breast cancer Paternal grandfather: pancreatic cancer Maternal grandmother: thyroid cancer	None	None
Major criteria
Adult lhermitteduclos disease (cerebellar dysplastic gangliocytoma)				x
Macrocephaly (≥97 percentile)	x	x	x	x	x	x	x		x
Macular pigmentation of glans penis							x		x
Multiple mucocutaneous lesions (trichilemmomas (≥3), acral keratoses (≥3), mucocutaneous neuromas (≥3), oral papillomas)				x	x				x
Breast cancer		x			x (DCIS)
Endometrial cancer (epithelial)
Thyroid cancer (follicular)
Gastrointestinal hamartomas				x	x	x	x
Minor criteria
Autism spectrum disorder	x							x
Intellectual disability (IQ ≤75)
Colon cancer
Esophageal glycogenic acanthosis (≥3)
Lipomas	x			x
Fibromas	x				x
Renal cell carcinoma
Testicular lipomatosis
Thyroid structural lesions (e.g., adenoma, goiter)				x			x
Vascular anomalies					x
Other			Hashimoto's thyroiditis		Neuroendocrine pancreatic tumor, later developed metastatic breast cancer	Mild intellectual disability		Central and peripheral nervous system hamartomas
Met clinical criteria for testing	x			x	x	x	x		x