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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