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Table 2 Clinical criteria for PTEN hamartoma tumor syndrome as suggested by Pilarski et al.[22]

From: Hamartomatous polyposis syndromes: A review

Major criteria

Breast cancer

Endometrial cancer (epithelial)

Thyroid cancer (follicular)

Gastrointestinal hamartomas (including ganglioneuromas, but excluding hyperplastic polyps; ≥3)

Lhermitte-Duclos disease (adult)

Macrocephaly (≥97 percentile: 58 cm for females, 60 cm for males)

Macular pigmentation of the glans penis

Multiple mucocutaneous lesions (any of the following)


o Multiple trichilemmomas (≥3, at least one biopsy proven)

o Acral keratoses (≥3 palmoplantar keratotic pits and/or acral hyperkeratotic papules)

o Mucocutaneous neuromas (≥3)

o Oral papillomas (particularly on tongue and gingiva), multiple (≥3) OR biopsy proven OR dermatologist diagnosed

Minor criteria

Autism spectrum disorder

Colon cancer

Esophageal glycogenic acanthosis (≥3)

Lipomas (≥3)

Mental retardation (ie, IQ ≤ 75)

Renal cell carcinoma

Testicular lipomatosis

Thyroid cancer (papillary or follicular variant of papillary)

Thyroid structural lesions (eg, adenoma, multinodular goiter)

Vascular anomalies (including multiple intracranial developmental venous anomalies)

Operational diagnosis in an individual (either of the following)

1. Three or more major criteria, but one must include macrocephaly, Lhermitte-Duclos disease, or gastrointestinal hamartomas; or

2. Two major and three minor criteria.

Operational diagnosis in a family where one individual meets revised PTEN hamartoma tumor syndrome clinical diagnostic criteria or has a PTEN mutation:

1. Any two major criteria with or without minor criteria; or

2. One major and two minor criteria; or

3. Three minor criteria.