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Table 2 Clinical criteria for molecular analysis of the PTEN gene in children and adolescents (modified from Tan et al.)

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

Molecular analysis for PTEN gene mutation, if: Macrocephaly plus at least one of the following symptoms No macrocephaly, no suggestive family history, but Family history positive for PTEN gene mutation
  Autism spectrum disorder or developmental delay Two major criteria Molecular analysis for PTEN gene mutation, if one parent is carrier of a mutation.
Dermatologic features: penile freckling, lipoma, trichilemmomas, oral papillomas, hemangioma One major criterion plus two minor criteria
Multiple gastrointestinal hamartomata or ganglioneuromata
Vascular anomalies Three minor criteria
Thyroid pathologies (particularly adenoma and carcinoma)
Enlarged perivascular spaces in cMRI