Cowden syndrome

Cowden syndrome 

Updated: 02/14/2020

© Jun Wang, MD, PhD

General features

• Autosomal dominant most common
• De novo mutation occasionally
• More common in female

Clinical presentations

• Mucocutaneous: Trichilemmomas, acral keratoses
• Breast: Breast cancer most common malignancy in patients with Cowden syndrome
• Thyroid: Multinodular goiter, Hashimoto thyroiditis, follicular adenoma, non-medullary carcinoma
• GU system: Renal cell carcinoma, Endometrial adenocarcinoma, uterine leiomyoma, testicle lipomatosis
• GI system: Esophageal glycogen acanthosis, Gastric and duodenal polyps, colon polyps, colorectal adenocarcinoma,
• Neurological: tumors including dysplastic gangliocytoma, vascular malformation, macrocephaly, mental retardation and developmental delay
• Immune dysregulation: B or T cell abnormalities including autoimmunity, thymus hyperplasia, etc

Genetic abnormalities

• PTEN

Diagnosis

• Individual diagnosis

At least three major criteria (must include macrocephaly, GI tract hamartomas and Lhermitte-Dutos disease), or

Two major criteria with three minor criteria

• Individual with PTEN mutation or diagnosis of PTEN hamartoma tumor syndrome

Any two major criteria, or

One major and two minor criteria, or

Three minor criteria

• Major criteria

Breast cancer

Endometrial adenocarcinoma

Follicular carcinoma of thyroid

GI tract hamartomas

Lhermitte-Dutos disease (adult)

Macrocephaly

Macular pigmentation of glans penis

Multiple mucocutaneous lesions: Trichilemmomas, acral keratoses, neuromas, oral papilloma

• Minor criteria

Autism

Colorectal adenocarcinoma

Esophageal glycogen acanthosis

Lipomas

Mental retardation

Renal cell carcinoma

Testicular lipomatosis

Multinodular goiter, follicular adenoma

Papillary or follicular variant of papillary carcinoma

Vascular abnormalities

Management

• Cancer surveillance
• Individualized treatment based on specific presentations

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