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Table 1 Major and minor criteria for indicating molecular testing of the PTEN gene mutation in children and adolescents (modified from [20, 22, 59])

From: PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guideline

Major criteria Minor criteria
Macrocephaly Autism spectrum disease
Family history positive for PTEN gene mutation Mental retardation (i.e., IQ < 75)
Dermatological findings like
- Trichilemmoma
- Oral papilloma
- Penile freckling
cMRI findings like
- Enlarged perivascular spaces
- White matter abnormalities
Vascular anomalies/malformations Lipoma/lipomatosis
Multiple gastrointestinal hamartoma or ganglioneuroma Esophageal acanthosis
Thyroid adenoma and thyroid carcinoma Other thyroid lesions (e.g., multinodular goiter, autoimmune thyroid disease)
Breast cancer Testicular lipomatosis
Endometrial cancer Renal carcinoma