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Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome

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Abstract

Background

Lynch syndrome (LS) is a predominantly inherited syndrome caused by a pathological germline mutation in one of the mismatch repair (MMR) genes. Whether breast cancer (BC) is one of the LS-associated tumors is controversial. The aim of this retrospective cohort study was to evaluate the clinical features of BC in Japanese patients with LS.

Methods

Of 38 mutation carriers, 4 females with BC were examined in this study.

Results

Two of the four patients had multiple BC. Their median age at the diagnosis of BC was 63 (range, 47–84) years. The TNM (6th revision) stages of the six BCs were as follows: stage I, 33% (2/6); stage IIA, 50% (3/6); and stage IIB, 17% (1/6). Histological examination revealed four scirrhous, one papillotubular, and one medullary carcinoma. The positive ratios for estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth receptor 2 (HER2) were 83.3% (5/6), 83.3% (5/6), and 16.7% (1/6), respectively. Two of the three specimens showed MSI-H and one showed MSS. These MSI-H BCs had tumor-infiltrating lymphocytes. Two of the three specimens showed an absence of MLH1 and PMS2 proteins on immunohistochemistry. The cumulative risks for a person with LS to develop BC were 4.35% at the age of 50 years, 8.70% at 60 years, and 21.5% at 70 years.

Conclusions

Our study results showed BC in Japanese females with LS to be an MSI-H tumor, which was ER and PgR positive and HER2 negative.

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Acknowledgements

This research was supported by Japan Agency for Medical Research and Development (AMED) under Grant no. JP18kk0205004.

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Authors and Affiliations

  1. Department of Surgery, Iwakuni Clinical Center, Yamaguchi, Japan

    Nobuhiko Kanaya, Kohji Tanakaya, Takashi Arata & Hideki Aoki

  2. Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, 700-8558, Okayama, Japan

    Nobuhiko Kanaya, Kunitoshi Shigeyasu & Toshiyoshi Fujiwara

  3. Department of Pathology, Iwakuni Clinical Center, Yamaguchi, Japan

    Rie Yamasaki & Toshiaki Morito

  4. Department of Gynecology, Yamaguchi Prefectural Grand Center, Yamaguchi, Japan

    Hiromi Sanaii

  5. Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan

    Kiwamu Akagi

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  1. Nobuhiko Kanaya
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Correspondence to Nobuhiko Kanaya.

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Electronic supplementary material

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12282_2018_931_MOESM1_ESM.tif

Supplementary Figure 1: Hematoxylin and eosin staining for breast cancers in Case 2. a: initial breast cancer (BC), b: second BC (TIF 365 KB)

12282_2018_931_MOESM2_ESM.tif

Supplementary Figure 2: Mismatch repair gene immunohistochemistry for the initial breast cancer in Case 2. a: MLH1 protein, b: MSH2 protein, c: MSH6 protein, d: PMS2 protein (TIF 726 KB)

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Kanaya, N., Tanakaya, K., Yamasaki, R. et al. Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome. Breast Cancer 26, 359–364 (2019). https://doi.org/10.1007/s12282-018-0931-z

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  • DOI: https://doi.org/10.1007/s12282-018-0931-z

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