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Cowden Syndrome

Cowden Syndrome - How to prevent?

Cowden Syndrome - Diagnosis

How is CS diagnosed by doctors?

Individuals can be diagnosed with CS through a physical examination and clinical evaluation by a doctor with experience in managing the condition, to assess if the clinical diagnostic criteria of CS is met.

If a patient is found to meet clinical testing criteria or to have features suggestive of CS, genetic testing may be offered.

Who should undergo testing for CS?

Genetic testing is usually recommended for individuals who meet one or more of the criteria below:

  • Clinically diagnosed with CS
  • A family member who has a clinical diagnosis of CS/PHTS for whom testing has not been performed AND meets:
    • Any two major criteria; OR
    • One major and two minor criteria; OR
    • Three minor criteria
  • A previously identified faulty PTEN gene in the family

Major criteria
  • Breast cancer
  • Uterine (endometrial) cancer
  • A certain type of thyroid cancer (follicular)
  • Multiple benign growths in the intestine or on nerves
  • Rare benign brain tumour (Lhermitte-Duclos disease)
  • Large head size (macrocephaly)
  • Penile freckling
  • Lesions on skin (trichilemmomas)
  • Abnormal thickening of the hands and feet (palmoplantar keratosis)
  • Lesion in mouth (mucosal papillomatosis)

Minor criteria
  • Colon cancer
  • Multiple benign growths in the oesophagus (oesophageal glycogenic acanthosis)
  • Intellectual disability
  • A certain type of thyroid cancer (papillary thyroid cancer)
  • Thyroid lesions, such as adenoma, nodule(s) or goiter
  • Kidney cancer (renal cell carcinoma)
  • Autism
  • Blood vessel anomalies (haemangiomas)
  • Benign soft tissue tumour (lipoma)
  • Single benign growth in the intestine or on nerves (gastrointestinal hamartoma or ganglioneuroma)
  • Multiple benign lumps in the testicles (testicular lipomatosis)

Note: The criteria outlined here may change as more information is available.

How can your genetic test result help you?

  1. Personalised management

    Your genetic test result may help confirm a clinical diagnosis of CS. Understanding if you have CS provides you with options for managing your risk of tumours/cancer.

    For example, screening options may be recommended to you which can help to detect tumours/cancer at its earliest, most treatable and manageable stage.

    In some cases, you may choose to undergo surgery that can help to reduce your risk of developing cancer (not standard management). For individuals planning a family, dedicated reproductive options may also be available.

  2. Familial implications

    Your genetic test result can also help you understand if other family members are at risk of CS. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.

    Family members who have inherited the same faulty gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).

    Family members who did not inherit the faulty gene can avoid unnecessary screening and worry. Their children will also not be at risk.

Cowden Syndrome - Preparing for surgery

Cowden Syndrome - Post-surgery care