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Prevalence of pre-malignant and malignant lesions in prophylactic mastectomy specimens of BRCA1 mutation carriers: comparison with a control group

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Abstract

Purpose

BRCA1 mutation carriers are at high risk for breast cancer (BC). The risk management strategy may include radiological investigations for early detection or prophylactic mastectomy (PM). For a mutation carrier, PM may be more significant than surveillance alone when pre-malignant and malignant changes occur increasingly in mastectomy specimens, given normal findings on radiological investigations. In the present study we retrospectively investigated the differences between histological findings in PM specimens of BRCA1 carriers and those of a control group.

Methods

Twenty-four healthy and 28 affected carriers in the presence of normal preoperative radiological findings were included in the study. To compare the frequency of pre-malignant and malignant lesions in PM specimens, a control group matched for age and disease status was included. T-tests for independent samples and Wilcoxon’s signed-rank test were used for comparison of groups.

Results

The entire study group differed significantly from the control group (42.3 vs. 5.8%; P < 0.001) in terms of the occurrence of pre-malignant and malignant lesions. Both, the sub-group comparison of healthy mutation carriers as well as diseased carriers with their controls, showed a significant difference in terms of the occurrence of pre-malignant and malignant changes (45.8 vs. 0%; P = 0.002; 39.3 vs. 10.7%; P = 0.03). In PM specimens of mutation carriers, carcinomas were identified in 5.8% (3/52) and pre-malignant changes in 36.5% (19/52).

Conclusions

BRCA1 mutation carriers should be informed of the fact that pre-malignant and even malignant changes are frequently found in PM specimens despite normal radiological findings.

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Acknowledgments

This study was supported by the Private Trust for Breast Health and the Austrian Society for Endocrine Oncology. Members of the “Austrian Hereditary Breast and Ovarian Cancer Group” are: A. Bachmann, Innsbruck, K. Matthae, Hospital of Hall/Tyrol; M. Bachner, General Hospital of St. Poelten; C. Baldinger, I. Stadlhuber, General Hospital of Wels; M. Baldinger, R. Kusatz, Wels; H. Concin, M. Rohde, General Hospital of Bregenz; W. Doeller, E. Melbinger, General Hospital of Wolfsberg; H-C. Duba, Women’s General Hospital, Linz; EP. Forsthuber, S. Sussitz, General Hospital of Klagenfurt; A. Haid, A. Lang, A. Taraben, R. Koeberle-Wuehrer, General Hospital of Feldkirch; E. Klug, General Hospital of Oberwart; R. Leikermoser, D. Krichbaumer, Hospital of St. Elisabeth, Linz; C. Schmidhammer, S. Poestlberger, Hospital of the Merciful Sisters, Linz; P. Mayer, B. Mlineritsch, General Hospital of Salzburg; A. Meixner, Waldviertelklinikum Horn; T. Payrits, Hospital of Wiener Neustadt; T. Niernberger, General Hospital of Leoben; E. Petru, M. Bauer, P. Konstantiniuk; F. Peintinger, P. Pittler, Hospital of Leoben; E. Ropp, Klagenfurt; C. Menzel, S. Glueck, Landeskliniken Salzburg- St. Johannsspital; C. Tausch, Linz; M. Hubalek, University of Innsbruck; G. Wahl, General Hospital of Linz; S. Berning, Hospital of Kufstein, J. Wiegele, Kufstein; W. Zeilmann, S. Schaefer, Hospital of Kardinal Schwarzenberg, Schwarzach/Pongau; G. Hudelist, General Hospital of Villach, T. Eberl, Hospital of Barmherzigen Brüder, St. Veit/Glan, all: Austria

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Division of Senology, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria

    Regina Kroiss, V. Winkler, K. Kalteis, D. Bikas, M. Tea, C. Fuerhauser, D. Muhr, H. Cerny, E. Kubista & T. Wagner

  2. Department of Pathology, Medical University of Vienna, Vienna, Austria

    M. Rudas

  3. Department of Obstetrics and Gynecology, General Hospital of Salzburg, Salzburg, Austria

    S. Glueck

  4. Department of Obstetrics and Gynecology, University of Graz, Graz, Austria

    E. Petru

  5. Department of Obstetrics and Gynecology, General Hospital of Bregenz, Bregenz, Austria

    H. Concin

  6. Faculty of Medicine, Institute of Functional Genomics, Regensburg, Germany

    P. Oefner

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  1. Regina Kroiss
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  2. V. Winkler
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  3. K. Kalteis
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  4. D. Bikas
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  5. M. Rudas
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  6. M. Tea
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  7. C. Fuerhauser
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  8. D. Muhr
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  9. H. Cerny
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  10. S. Glueck
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  11. E. Petru
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  13. E. Kubista
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  14. P. Oefner
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  15. T. Wagner
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and the Austrian Hereditary Breast and Ovarian Cancer Group

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Correspondence to Regina Kroiss.

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Kroiss, R., Winkler, V., Kalteis, K. et al. Prevalence of pre-malignant and malignant lesions in prophylactic mastectomy specimens of BRCA1 mutation carriers: comparison with a control group. J Cancer Res Clin Oncol 134, 1113–1121 (2008). https://doi.org/10.1007/s00432-008-0383-5

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  • DOI: https://doi.org/10.1007/s00432-008-0383-5

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