Cowden syndrome (CS): genetics and imaging

Genetics

• This is caused by mutations in the PTEN or KILLIN genes on chromosome 10q
• The transmission is autosomal dominant
• PTEN is a tumour suppressor gene: it is present in about 85% of cases
• KILLIN is also a tumour suppressor gene: it carries a higher risk of breast and renal cancer

Magnetic resonance imaging (MRI) brain: features

References

1. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105:1607-1616.
2. Nosé V. Genodermatosis affecting the skin and mucosa of the head and neck: clinicopathologic, genetic, and molecular aspect-PTEN-hamartoma tumor syndrome/Cowden syndrome. Head Neck Pathol 2016; 10:131-138.
3. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000; 37:828-830.
4. Barreras P, Gailloud P, Pardo CA. A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report. Spine J 2018; 18:e1-e5. 
5. Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA 2010; 304:2724-2731.
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Related checklists

• PTEN hamartoma tumour syndromes (PHTS): classification
• Cowden syndrome (CS): clinical features
• Bannayan-Riley-Ruvalcaba syndrome (BRRS): genetics and imaging
• Bannayan-Riley-Ruvalcaba syndrome (BRRS): clinical features
• Lhermitte Duclos disease (LDD)