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. 2022 Aug 1;128(15):2883-2891.
doi: 10.1002/cncr.34326. Epub 2022 Jun 1.

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

Alma Hoxhaj  1   2   3 , Meggie M C M Drissen  3   4 , Janet R Vos  3   4   5 , Peter Bult  6 , Ritse M Mann  1   2 , Nicoline Hoogerbrugge  3   4   5   6
Affiliations

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

Alma Hoxhaj et al. Cancer. .

Abstract
in English, Tagalog

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 < .005).

Conclusions: The findings show that annual BC surveillance with MRI starting at age 25 years enables detection of early-stage BCs. Performance measures of surveillance and CDR were both high. BBLs were commonly present, underlining the importance of evaluation of all lesions independently.

Lay summary: Breast cancer surveillance leads to decreased tumor stage and improved survival. Breast cancer surveillance with breast magnetic resonance imaging from age 25 years onward is recommended.

  1. Breast cancer surveillance leads to decreased tumor stage and improved survival.

  2. Breast cancer surveillance with breast magnetic resonance imaging from age 25 years onward is recommended.

Keywords: PTEN Hamartoma Tumor Syndrome; PTEN gene variants; breast cancer; breast cancer early diagnosis; breast cancer surveillance in high‐risk women.

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Conflict of interest statement

All authors declare no support from any organization for the submitted work. Ritse M. Mann reports personal fees outside the submitted work from Bayer Healthcare, Siemens Healthineers, BD, and Transonic Imaging for consultancies, and grants/grants pending from Siemens Healthineers, Medtronic, Bayer Healthcare, BD, Screenpoint Medical, Seno Medical, and Koning. There are no other relationships or activities that could appear to have influenced the submitted work.

Figures

FIGURE 1
FIGURE 1
Flowchart of women with PHTS included in the study. Abbreviations: BC, indicates breast cancer; PHTS, PTEN Hamartoma Tumor Syndrome. One woman was diagnosed with BC both before and during surveillance. Two women were also diagnosed with BC by means of surveillance. One woman was also diagnosed with BC before PHTS diagnosis. All 4 women had a history of BC.
FIGURE 2
FIGURE 2
Timeline of BC surveillance. Each horizontal line represents 1 unique woman. Each circle, square, or diamond represents 1 BC surveillance examination. A green cross represents the age at PHTS diagnosis. A red plus represents the age of BC detection before the start of surveillance. BCs found at prophylactic mastectomy are not depicted. All findings concern pathology‐confirmed breast lesions. Abbreviations: BBL indicates benign breast lesion; DCIS, ductal carcinoma in situ; MG, mammography; MRI, magnetic resonance imaging; PHTS, PTEN Hamartoma Tumor Syndrome.
FIGURE 3
FIGURE 3
Histologic classification of benign breast lesions in all 23 women with PHTS. Abbreviation: PHTS indicates PTEN Hamartoma Tumor Syndrome.
See this image and copyright information in PMC

References

    1. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607‐1616. doi:10.1093/jnci/djt277 - DOI - PubMed
    1. Mester JL, Ghosh R, Pesaran T, et al. Gene‐specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018;39(11):1581‐1592. doi:10.1002/humu.23636 - DOI - PMC - PubMed
    1. Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Cancers (Basel). 2019;11(6):844. doi:10.3390/cancers11060844 - DOI - PMC - PubMed
    1. Nieuwenhuis MH, Kets CM, Murphy‐Ryan M, et al. Cancer risk and genotype‐phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer. 2014;13(1):57‐63. doi:10.1007/s10689-013-9674-3 - DOI - PubMed
    1. Bubien V, Bonnet F, Brouste V, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50(4):255‐263. doi:10.1136/jmedgenet-2012-101339 - DOI - PubMed

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