Table 3.
Clinical diagnostic criteria
| A clinical diagnosis of PHTS can be made in an individual having any of the following | |
| 1) At least three major diagnostic criteria (one of which must be macrocephaly, Lhermitte-Duclos disease, or GI hamartomas) | |
| 2) At least two major and three minor diagnostic criteria | |
| 3) Has a relative with a clinical diagnosis of PHTS or a known PTEN mutation and has either | |
| a) At least two major diagnostic criteria | |
| b) At least one major and two minor diagnostic criteria | |
| c) At least three minor diagnostic criteria | |
| Major criteria | Minor criteria |
|
| |
| Breast cancer | Colon cancer |
| Epithelial endometrial cancer | Renal cell carcinoma |
| Follicular thyroid cancer | Papillary/follicular variant of papillary thyroid cancer |
| Three or more GI hamartomas/ganglioneuromas | Thyroid structural lesions |
| Macrocephaly | Vascular anomalies |
| Adult-onset Lhermitte-Duclos disease | Three or more lipomas |
| Macular pigmentation of the glans penis | Testicular lipomatosis |
| Mucocutaneous lesions | Three or more areas of |
| – Three or more trichilemmomas – at least one biopsy proven | esophageal glycogenic acanthosis |
| – Three or more palmoplantar pits or acral hyperkeratotic papules | Autism spectrum disorder |
| – Three or more mucocutaneous neuromas | Mental retardation |
| – Oral papillomas – either three or more, or at least one biopsy proven or dermatologist diagnosed | |
Note: Adapted with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast and Ovarian V.2.2015. © 2015 National Comprehensive Cancer Network, Inc. All rights reserved. The NCCN Guidelines® and illustrations herein may not be reproduced in any form for any purpose without the express written permission of the NCCN. To view the most recent and complete version of the NCCN Guidelines, go online to NCCN.org. National Comprehensive Cancer Network®, NCCN®, NCCN Guidelines®, and all other NCCN Content are trademarks owned by the National Comprehensive Cancer Network, Inc.42
Abbreviations: GI, gastrointestinal; JNCI, Journal of the National Cancer Institute; PHTS, PTEN hamartoma tumor syndrome; PTEN, phosphatase and tensin homolog deleted on chromosome 10.