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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