Table 2.
Screening and management recommendations for PHTS
| Screening/surgical guidelinesa | Age to start | Frequency | |
|---|---|---|---|
| Breast | Breast awareness and self-exam: report changes to health care provider | 18 | Consistent |
| Clinical breast exam | 25b | Every 6–12 months | |
| Mammogram with consideration of tomosynthesis and breast MRI with contrast | 30–35b | Every 12 months | |
| Discuss mastectomy | Personalized | As needed | |
| Thyroid | Thyroid ultrasound | Time of PHTS diagnosis, including childhood | Every 12 months |
| Kidney | Consider renal ultrasound | 40 | Every 1–2 years |
| Endometrium | Encourage patient education and prompt response to symptoms (e.g., abnormal bleeding) | Not applicable | Not applicable |
| Consider screening via endometrial biopsy | Not applicable | Every 1–2 years | |
| Transvaginal ultrasound in postmenopausal women at the clinician's discretion | Not applicable | As needed | |
| Discuss hysterectomy with completion of childbearing | Personalized | As needed | |
| Colon | Colonoscopy | 35b unless symptomatic | Every 5 years or more frequently depending on whether patient is symptomatic or polyps are found |
| Dermatologic | Dermatologic exam | Personalized | Clinician's recommendation |
| Developmental | Consider psychomotor assessment in children | Time of PHTS diagnosis | Clinician's recommendation |
| Brain MRI if symptomatic | Time of PHTS diagnosis | Clinician's recommendation |
Table adapted, with permission, from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/Familial High-Risk Assessment: Breast and Ovarian V.1.2019. © 2018 National Comprehensive Cancer Network. 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 NCCN. To view the most recent and complete version of the NCCN Guidelines, go online to NCCN.org. The NCCN Guidelines are a work in progress that may be refined as often as new significant data becomes available. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.
(PHTS) PTEN hamartoma tumor syndrome, (MRI) magnetic resonance imaging.
aAnnual Comprehensive physical exam starting at age 18 or 5 years before the youngest age of diagnosis of a component cancer in the family (whichever comes first), with particular attention to thyroid exam. Encourage patient education regarding the signs and symptoms of cancer.
bCancer screening should begin 5–10 years before the earliest known component cancer in the family or according to the ages listed in the above table, whichever comes first.