Table 2.
Clinical Characteristics of 17 Patients Meeting 2009 NCCN Diagnostic Criteria for Cowden Syndrome
| |
Major CS criteriaa |
Minor CS criteria |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gender/race | PTEN result | Thyroid cancer histology | Macrocephaly (HC in cm) | Benign thyroid | GI hamartomas | FCBD | Lipomas | Fibromas | GU tumors/defects | Uterine fibroids |
| F/African American | R15Sb | FTC | Y (58.5) | N | Y | N | N | N | N | N |
| F/Caucasian | R130Qb | FTC | Y (62) | Y | U | N | N | N | N | N |
| M/Caucasian | Negativeb | PTC | Y (60.25) | N | N | N | N | N | N | N |
| F/Caucasian | Negativeb | PTC | Y (60.25) | Y | U | N | N | N | N | U |
| M/Caucasian | Negativeb | PTC, FV | Y (60) | N | N | N | Y | N | N | NA |
| F/African America | Negativeb | PTC, FV | N (56.5) | N | N | Y | N | N | Y | Y |
| F/Caucasian | Negativeb | PTC, FV | N (55.5) | Y | N | Y | Y | N | N | Y (nc) |
| F/Caucasian | Negativeb | PTC, FV | N (54.5) | N | N | Y | Y | N | N | Y |
| M/Caucasian | Negativec | microPTC | Y (63.5) | Y | N | N | N | N | N | NA |
| M/Caucasian | Negativec | FTC, OV | Y (61) | Y | N | N | N | N | N | NA |
| M/Caucasian | Negativec | PTC | Y (60) | N | N | N | Y | N | N | NA |
| M/Caucasian | Negativec | PTC, tall cell | Y (60) | N | N | N | N | N | N | N |
| F/Caucasian | Negativec | microPTC | Y (59) | N | N | N | N | N | N | N |
| F/Caucasian | Negativec | FTC, OV | N (56.5) | Y | N | Y | N | N | N | Y |
| F/Caucasiand | Negativec | PTC | N (56) | N | Y | Y | N | N | N | Y (nc) |
| F/Caucasian | Negativec | FTC | N (55.5) | N | Y | Y | N | Y | N | N |
| F/Caucasian | Negativec | PTC, FV | N (55.5) | Y | N | Y (nc) | N | N | N | Y |
a
No patient met pathognomonic CS criteria or had breast or endometrial cancer.
b
Genetic testing by denaturing gradient gel electrophoresis.
c
Genetic testing by LightScanner.
d
Patient had single trichilemmoma confirmed by pathology as well as multiple keratoses.
HC, head circumference; GI, gastrointestinal; FCBD, fibrocystic breast disease; GU, genitourinary; PTC, papillary thyroid carcinoma; FTC, follicular thyroid carcinoma; OV, oncocytic variant; fv, follicular variant; Y, yes; N, no; U, unknown M, male; F, female; NA, not applicable; nc, per patient report only, not confirmed with medical records.