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. 2016 Jun 30;3(5-6):149–155. doi: 10.18632/oncoscience.305

Table 2. Revised Clinical Diagnostic Criteria for Cowden syndrome.

Major Criteria:

  • Breast cancer

  • Endometrial cancer

  • Follicular thyroid cancer

  • Lhermitte–Duclos disease (LDD) (Gangliocytoma)

  • Meningioma

  • GI hamartomas or ganglioneuromas

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

  • Macular pigmentation of the glans penis

  • Multiple mucocutaneous lesions:

    • Trichilemmomas (≥3, at least one biopsy proven)

    • Acral keratoses

    • Mucocutaneous neuromas (≥3)

    • Oral papillomas

 Minor Criteria:

  • Autism spectrum disorder

  • Colon cancer

  • Esophageal glycogenic acanthosis (≥3)

  • Lipomas (≥ 3)

  • Intellectual disability (ie, IQ ≤ 75)

  • Renal cell carcinoma

  • Testicular lipomatosis

  • Papillary thyroid cancer (papillary or follicular variant)

  • Thyroid structural lesions (eg, adenoma, nodule(s), 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, LDD, or GI hamartomas; or

  2. Two major and three minor criteria.

Operational diagnosis in a family where one individual is diagnostic for Cowden syndrome:

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

  2. One major and two minor criteria; or

  3. Three minor criteria.

International Cowden Syndrome Consortium operational criteria for the diagnosis of Cowden syndrome (in the version of the year 2015) with the addition of meningioma as a major criteria (indicated in red letters).