Case Report
Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report

https://doi.org/10.1016/j.ijscr.2019.03.053Get rights and content
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Highlights

  • Currently, there is no indication to perform prophylactic mastectomy in CDH1 mutation carriers: breast surveillance is recommended.

  • To reduce the psychological impact due to bilateral prophylactic mastectomy, that is followed by immediate breast reconstruction.

  • A full multidisciplinary team is crucial for the management of patients with CDH1 mutation.

Abstract

Introduction

Germline CDH1 mutations, classically associated with hereditary diffuse gastric cancer (HDGC), also imply an increased lifetime risk of developing lobular breast cancer (LBC) in a highly penetrant autosomal dominant manner.

Presentation of case

We report a 44-year-old woman CDH1 mutation carrier with a strong family history of cancer, who previously had prophylactic total gastrectomy. We registered normal findings at the breast and axilla assessment. Mammography, ultrasonography and breast MRI scans were negative for cancer. In our Institute a bilateral prophylactic mastectomy followed by breast reconstruction was performed. Foci of atypical lobular hyperplasia(ALH) and lobular carcinoma in situ (LCIS) were histologically shown.

Discussion

The current consensus guidelines for women with pathogenic CDH1 mutations recommend annual mammography, ultrasound, breast MRI scans and clinical breast examination starting at the age of 35. Due to the well-documented aggressive behavior of this particular type of cancer, bilateral mastectomy and reconstruction would be more beneficial for this kind of high-risk patients.

Conclusion

Conflicting evidences and lacking data about the benefits in terms of overall survival, disease-free survival and the long-term outcomes related to prophylactic bilateral mastectomy for CDH1 mutation carriers restrict the instruction for this type of procedure to selected cases, which should always be managed by a multidisciplinary team.

Keywords

CDH1
Lobular breast cancer
Prophylactic bilateral mastectomy
Case report

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