Cowden syndrome diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

Biopsy of the skin lesions, is the gold standard test for the diagnosis of cowden syndrome.
Biopsy of the trichilemmomas (≥3, at least one biopsy proven) is the gold standard test for the diagnosis of cowden syndrome.
Biopsy of the core biopsy of the breasts is the gold standard test for the diagnosis of cowden syndrome.

The diagnostic criteria of cowden syndrome is based on the Cowden syndrome/PHTS criteria, which include:

Pilarski et al diagnostic criteria:

Pilarski et al diagnostic criteria is proposed by National Comprehensive Cancer Network (NCCN) which include^[1]^[2]^[3]
Diagnosis require^[4]
- Any two major positive criteria symptoms or
- One major and two minor positive criteria symptoms or
- Three minor positive criteria symptoms

Major criteria^[5]	Minor criteria^[6]
Macrocephaly (occipital frontal circumference ≥97th percentile) Breast cancer Thyroid cancer Endometrial carcinoma Gastrointestinal hamartomas(ganglioneuromas) Penile pigmentation	Autism spectrum disorders Intellectual disability (IQ ≤75) Colon cancer Esophageal glycogenic acanthosis (≥3) Fibromas Uterine fibroids Genitourinary tumors(renal cell carcinoma) Genitourinary malformation Glycogenic acanthosis of the esophagus Testicular lipomatosis Vascular anomalies Thyroid cancer

↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (November 2013). "Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria". J. Natl. Cancer Inst. 105 (21): 1607–16. doi:10.1093/jnci/djt277. PMID 24136893.
↑ Mester JL, Moore RA, Eng C (2013). "PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?". Oncologist. 18 (10): 1083–90. doi:10.1634/theoncologist.2013-0174. PMC 3805149. PMID 24037976.
↑ Ngeow J, Sesock K, Eng C (August 2017). "Breast cancer risk and clinical implications for germline PTEN mutation carriers". Breast Cancer Res. Treat. 165 (1): 1–8. doi:10.1007/s10549-015-3665-z. PMID 26700035.
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)
↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Eng C. PMID 20301661. Vancouver style error: initials (help); Missing or empty |title= (help)