Top

Published in:

Open Access 01-12-2018 | Epidemiology

High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan

Authors: Hideko Yamauchi, Megumi Okawa, Shiro Yokoyama, Chizuko Nakagawa, Reiko Yoshida, Koyu Suzuki, Seigo Nakamura, Masami Arai

Published in: Breast Cancer Research and Treatment | Issue 3/2018

Abstract

Purpose

Prophylactic surgery is a preemptive strategy for hereditary breast and ovarian cancer (HBOC). Prophylactic mastectomy (PM) reduces breast cancer risk by > 90%. The aim of our study is to analyze the information of the Japanese pedigrees and to utilize the results for clinical practice.

Methods

We statistically analyzed records of HBOC registrees who had undergone BRCA1/2 genetic testing at seven medical institutions up until 2016. In the cases of PM, we examined breasts with the use of mammography (MMG), ultrasound (US), and magnetic resonance imaging (MRI) before surgery. After PM, the specimens were divided about 1 cm serially and examined in their entirety.

Results

Of 1527 registrees who underwent BRCA testing, 1125 (73.7%) were negative for BRCA1/2 mutation, 297 (19.5%) were positive for BRCA1/2 mutation (BRCA1/2^MUT+), and 105 (6.9%) had uncertain results. To decide whether to undergo total mastectomy vs. breast-conserving surgery (BCS), 370 registrees underwent presurgical genetic testing. During the follow-up period, four new-onset breast cancers were found among the 55 non-affected BRCA carriers. Among the 73 BRCA1/2^MUT+ carriers who underwent BCS, 3 were found to have ipsilateral breast cancer. Of 189 BRCA1/2^MUT+ carriers with unilateral breast cancer, 8 were found to have contralateral breast cancer. Of 53 PM specimens, 6 (11.3%) were found to have occult breast cancer despite using MMG, US, and MRI.

Conclusions

Our report showed a relatively higher incidence rate of occult cancer at 11.3% in PM specimens despite thorough pre-operative radiological evaluations, which included a breast MRI. Considering the occult cancer rates and the various pathological methods of our study and published studies, we propose the necessity of a histopathological protocol.

Saika K, Sobue T (2009) Epidemiology of breast cancer in Japan and the US. Jpn Med Assoc J (JMAJ) 52(1):39–44. https://www.med.or.jp/english/journal/pdf/2009_01/039_044.pdf

Center for Cancer Control and Information Services. Graph Database [Cancer Information Services For Health Professionals]. http://gdb.ganjoho.jp Accessed 2 May 2018

Leong SPL, Shen ZZ, Liu TJ et al (2010) Is breast cancer the same disease in Asian and Western countries? World J Surg 34(10):2308–2324. https://doi.org/10.1007/s00268-010-0683-1 CrossRefPubMedPubMedCentral

Arai M, Yokoyama S, Watanabe C et al (2018) Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. J Hum Genet 63(4):447–457. https://doi.org/10.1038/s10038-017-0355-1 CrossRefPubMed

Hartmann LC, Schaid DJ, Woods JE et al (1999) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 340(2):77–84CrossRef

Meijers-Heijboer H, van Geel B, van Putten WLJ et al (2001) Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345(3):159–164. https://doi.org/10.1056/NEJM200107193450301 CrossRefPubMed

Yao K, Liederbach E, Tang R et al (2014) Nipple-sparing mastectomy in BRCA1/2 mutation carriers: an interim analysis and review of the literature. Ann Surg Oncol 22(2):370–376. https://doi.org/10.1245/s10434-014-3883-3 CrossRefPubMed

Burger A, Thurtle D, Owen S et al (2013) Sentinel lymph node biopsy for risk-reducing mastectomy. Breast J 19(5):529–532. https://doi.org/10.1111/tbj.12157 CrossRefPubMed

Boughey JC, Khakpour N, Meric-Bernstam F et al (2006) Selective use of sentinel lymph node surgery during prophylactic mastectomy. Cancer 107(7):1440–1447. https://doi.org/10.1002/cncr.22176 CrossRefPubMed

10.

van Sprundel TC, Schmidt MK, Rookus MA et al (2005) Risk reduction of contralateral breast cancer and survival after contralateral prophylactic mastectomy in BRCA1 or BRCA2 mutation carriers. Br J Cancer 93(3):287–292. https://doi.org/10.1038/sj.bjc.6602703 CrossRefPubMedPubMedCentral

11.

McLaughlin SA, Stempel M, Morris EA, Liberman L, King TA (2008) Can magnetic resonance imaging be used to select patients for sentinel lymph node biopsy in prophylactic mastectomy? Cancer 112(6):1214–1221. https://doi.org/10.1002/cncr.23298 CrossRefPubMed

12.

Evans DG, Ingham SL, Baildam A et al (2013) Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer. Breast Cancer Res Treat 140(1):135–142. https://doi.org/10.1007/s10549-013-2583-1 CrossRefPubMed

13.

Hoogerbrugge N, Bult P, de Widt-Levert LM et al (2003) High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. J Clin Oncol 21(1):41–45. https://doi.org/10.1200/JCO.2003.02.137 CrossRefPubMed

14.

Kauff ND, Brogi E, Scheuer L et al (2003) Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations. Cancer 97(7):1601–1608. https://doi.org/10.1002/cncr.11225 CrossRefPubMed

15.

Black D, Specht M, Lee JM et al (2007) Detecting occult malignancy in prophylactic mastectomy: preoperative MRI versus sentinel lymph node biopsy. Ann Surg Oncol 14(9):2477–2484. https://doi.org/10.1245/s10434-007-9356-1 CrossRefPubMed

16.

National Comprehensive Cancer Network. NCCN guidelines for detection, prevention, & risk reduction. https://www.nccn.org/

17.

Riedl CC, Luft N, Bernhart C et al (2015) Triple-modality screening trial for familial breast cancer underlines the importance of magnetic resonance imaging and questions the role of mammography and ultrasound regardless of patient mutation status, age, and breast density. J Clin Oncol 33(10):1128–1135. https://doi.org/10.1200/JCO.2014.56.8626 CrossRefPubMedPubMedCentral

18.

Warner E, Causer PA, Wong JW et al (2011)) Improvement in DCIS detection rates by MRI over time in a high-risk breast screening study. Breast J 17(1):9–17. https://doi.org/10.1111/j.1524-4741.2010.01018.x CrossRefPubMed

19.

Bosse K, Graeser M, Goßmann A, Hackenbroch M, Schmutzler RK, Rhiem K (2014) Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers. Arch Gynecol Obstet 289(3):663–670. https://doi.org/10.1007/s00404-013-3022-6 CrossRefPubMed

20.

Ohuchi N, Suzuki A, Sobue T et al, J-START investigator groups (2016) Sensitivity and specificity of mammography and adjunctive ultrasonography to screen for breast cancer in the Japan Strategic Anti-cancer Randomized Trial (J-START): a randomised controlled trial. Lancet 387(10016):341–348. https://doi.org/10.1016/S0140-6736(15)00774-6 CrossRefPubMed

21.

van Zelst JCM, Mus RDM, Woldringh G et al (2017)) Surveillance of women with the BRCA1 or BRCA2 mutation by using biannual automated breast US, MR imaging, and mammography. Radiology 285(2):376–388. https://doi.org/10.1148/radiol.2017161218 CrossRefPubMed

22.

Kuhl C, Weigel S, Schrading S et al (2010) Prospective multicenter cohort study to refine management recommendations for women at elevated familial risk of breast cancer: the EVA trial. J Clin Oncol 28(9):1450–1457. https://doi.org/10.1200/JCO.2009.23.0839 CrossRefPubMed

23.

Rabban JT, Krasik E, Chen LM, Powell CB, Crawford B, Zaloudek CJ (2009) Multistep level sections to detect occult fallopian tube carcinoma in risk-reducing salpingo-oophorectomies from women with BRCA mutations: implications for defining an optimal specimen dissection protocol. Am J Surg Pathol 33:1878–1885. https://doi.org/10.1097/PAS.0b013e3181bc6059 CrossRefPubMed

Title: High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan
Authors: Hideko Yamauchi
Megumi Okawa
Shiro Yokoyama
Chizuko Nakagawa
Reiko Yoshida
Koyu Suzuki
Seigo Nakamura
Masami Arai
Publication date: 01-12-2018
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 3/2018
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-018-4953-1

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

ACC 2024 Congress

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 3/2018

Epigenetic modulation of FOXM1-gene interacting network by BET inhibitors in breast cancer

Labour productivity loss caused by premature deaths associated with breast cancer: results from Spain over a 10-year period

Omega-3 fatty acid use for obese breast cancer patients with aromatase inhibitor-related arthralgia (SWOG S0927)

IgA Fc-folate conjugate activates and recruits neutrophils to directly target triple-negative breast cancer cells

Extracellular vesicles from triple-negative breast cancer cells promote proliferation and drug resistance in non-tumorigenic breast cells

Effects of trastuzumab on locoregional recurrence in human epidermal growth factor receptor 2-overexpressing breast cancer patients treated with chemotherapy and radiotherapy

Keynote webinar | Spotlight on antibody–drug conjugates in cancer