CDH1 mutation-related breast cancer with multistage breast surgery—a case report

Introduction

The CDH1 is a tumour suppressor gene. A germline or somatic mutation in the CDH1 gene can promote the migration of cancer cells, ultimately leading to tumour progression and metastasis. Overall, the loss-of-function variants of CDH1 are associated with lobular breast cancer and diffuse gastric cancer. The incidence in the general population is not high. CDH1 gene mutations occur in lobular breast cancers in women without the family history of the disease (1-4). We present the case of a patient with diagnosed lobular breast cancer with the CDH1 mutation and details about the multistage combined treatment. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-218/rc).

Case presentation

A 53-year-old woman after a surgical treatment of the right breast (a breast conserving surgery with a sentinel lymph node biopsy) and subsequent conformal radiotherapy (45/55 Gy in 20 fractions) in 2019 due to pT1bN0M0 invasive lobular right breast cancer (Figure 1). Based on genetic tests performed following oncological treatment, a CDH1 (NM_004360:c521dupA; ekson 4/16, pathogenic variant) gene mutation was diagnosed. Genetic tests were performed twice in the same laboratory using the next generation sequencing (NGS) method based on the blood sample. Seventy genes were evaluated. Both tests confirmed the CDH1 mutation. There was no history of cancer in the patient’s family. The patient was qualified for bilateral prophylactic mastectomy with an immediate reconstruction with a prosthesis, which was performed in 2020. Due to the CDH1 gene mutation, the patient was offered prophylactic gastrectomy with a D1 lymphadenectomy which was also performed in 2020. In the histopathological examination, there was no gastric cancer present. During the patient’s observation, skin thinning and fistula occurred over the right breast prosthesis with skin necrosis which resulted in the removal of the implant and the necrotized skin.

Figure 1 The patient after breast-conserving surgery and radiotherapy.

In 2021, the patient underwent the breast reconstruction using a latissimus dorsi muscle flap (LD flap) with an expander. The reconstruction was performed with an LD flap and a Mentor CPX4-350cc expander was implanted filled with 140 mL of physiological saline. The postoperative course was uneventful, and the patient was discharged home on the 4th day following the surgery. The breast drain was removed on the 11th day postoperatively on an outpatient basis. On the 13th day postoperatively, the patient reported to the clinic owing to swelling on the back and fever. The wounds were dry, and there was no inflammatory reaction in the breasts. The lymph fluid collection was present on the back, hence a puncture procedure was completed, and 180 mL of lymphatic fluid was removed. The material was collected for culture. The axillary drain had 60 mL of serous fluid and the drain was maintained. Escherichia coli was cultured from the lymph fluid. A targeted antibiotic therapy was initiated. The clinical improvement was achieved after the antibiotic therapy. The expander was gradually filled with an additional 40 mL of saline at subsequent visits until reaching the maximum volume. Following maximal expansion, breast asymmetry was observed, so the exchange of the expander for a prosthesis was recommended. In 2022, the expander was replaced with the breast prosthesis (Figure 2). The patient has remained under observation after the treatment, with the last observation in October 2024. No signs of local recurrence or dissemination of the breast cancer has been observed. The cosmetic effect is satisfactory. The patient is professionally active and runs marathons. After the procedure she participated and completed 2 marathons in Chicago and London. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Figure 2 The patient after the multistage treatment.

Discussion

Presently, we distinguish two subgroups of CDH1 mutant carriers: the first one with gastric and lobular breast cancer and the other one with a dominant lobular breast cancer without presence of gastric carcinoma. This evidence allows us to gain knowledge about their biology and plan prophylaxis and treatment procedures (1,2). Among non-gastric tumours, it was presented that CDH1 mutations are most frequently identified in a breast cancer (3). Also, CDH1 mutation is present in patients with other cancers (4). Current guidelines recommend considering prophylactic gastrectomy with the use of a D1 lymphadenectomy, breast cancer surveillance including annual magnetic resonance imaging (MRI) from the age of 20 years alternating with annual mammography from the age of 30 years. Bilateral prophylactic mastectomy may be also considered. Starting at the age of 40 years, colonoscopy is recommended at least every 5 years (5). In the described patient breast cancer had been recognized before the pathogenic variant was identified; however, consequent medical procedures were used according to the guidelines. Deprived of the knowledge about the genetic status, and because of the early stage of the cancer patient decided on the breast-conserving therapy. Because of the poor cosmetic effect after breast-conserving therapy, and the genetic mutation, the decision about further surgical treatment was taken. For the patient, not only the therapeutic process was important, but also the cosmetic effect. Skin complications after oncological treatment require surgical procedures and enhance the latter. The radiotherapy that had been performed was not an obstacle to achieve a good aesthetic effect, though some authors point out that previous radiotherapy can negatively influence the cosmetic effect. The results presented in the literature confirm that nipple-sparing mastectomy can be a safe surgical procedure after a previous breast surgery and radiotherapy (6-10). In light of current knowledge, it is not necessary to obligatorily perform the mastectomy, even in patients with the mutation, because radiotherapy itself remains an important part of the therapy and influences long-term results of treatment (11,12).

Conclusions

CDH1 gene mutations occur in lobular breast cancers in women without the family history of the disease. Breast-conserving treatment may serve as an alternative to mastectomy for breast cancer patients with the genetic mutation. However, very often women with a mutation-related breast cancer decide on mastectomy, even after a successful conservative surgery. As we have shown in our paper, previously administered breast-conserving treatment with radiotherapy is not a contraindication for aesthetic surgery. Cosmetic effects, even after multistage procedures, are overall positive.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-218/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-218/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-218/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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