The yield and effectiveness of breast cancer surveillance in women with PTEN Hamartoma Tumor Syndrome

Background Women with PTEN Hamartoma Tumor Syndrome (PHTS) are offered breast cancer (BC) surveillance because of an increased BC lifetime risk. Surveillance guidelines are, however, expert opinion–based because of a lack of data. We aimed to assess the yield and effectiveness of BC surveillance and...

Full description

Saved in:
Bibliographic Details
Published in:Cancer 2022-08, Vol.128 (15), p.2883-2891
Main Authors: Hoxhaj, Alma, Drissen, Meggie M.C.M., Vos, Janet R., Bult, Peter, Mann, Ritse M., Hoogerbrugge, Nicoline
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Breast - pathology
Breast cancer
breast cancer early diagnosis
breast cancer surveillance in high‐risk women
Breast Neoplasms - diagnostic imaging
Breast Neoplasms - epidemiology
Diagnosis
Female
Hamartoma Syndrome, Multiple - diagnosis
Hamartoma Syndrome, Multiple - genetics
Hamartoma Syndrome, Multiple - pathology
Humans
Lesions
Magnetic resonance imaging
Magnetic Resonance Imaging - methods
Mammography
Mammography - methods
Mastectomy
Medical diagnosis
Medical imaging
Middle Aged
Neoplasia
Oncology
PTEN gene variants
PTEN Hamartoma Tumor Syndrome
PTEN Phosphohydrolase - genetics
PTEN protein
Resonance
Surveillance
Tumors
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background Women with PTEN Hamartoma Tumor Syndrome (PHTS) are offered breast cancer (BC) surveillance because of an increased BC lifetime risk. Surveillance guidelines are, however, expert opinion–based because of a lack of data. We aimed to assess the yield and effectiveness of BC surveillance and the prevalence and type of breast disease in women with PHTS. Methods Sixty‐five women with PHTS who visited our center between 2001 and 2021 were included. Surveillance consisted of annual magnetic resonance imaging (MRI) and mammography from ages 25 and 30 years, respectively. Results Thirty‐nine women enrolled in the BC surveillance program (median age at first examination, 38 years [range, 24–70]) and underwent 156 surveillance rounds. Surveillance led to detection of BC in 7/39 women (cancer detection rate [CDR], 45/1000 rounds) and benign breast lesions (BBLs) in 11/39 women. Overall sensitivity2 (which excludes prophylactic‐mastectomy detected BCs) was 100%, whereas sensitivity2 of mammography and MRI alone was 50% and 100%, respectively. Overall specificity was higher in follow‐up rounds (86%) versus first rounds (71%). Regardless of surveillance, 21/65 women developed 35 distinct BCs (median age at first diagnosis, 40 years [range, 24–59]) and 23/65 developed 89 BBLs (median age at first diagnosis, 38 years [range, 15–61]). Surveillance‐detected BCs were all T1 and N0, whereas outside surveillance‐detected BCs were more often ≥T2 (60%) and N+ (45%) (p 
ISSN:0008-543X
1097-0142
DOI:10.1002/cncr.34326