# Sebaceous Carcinoma of the Breast in a Japanese Male with a BRCA2 Pathogenic Variant: Report of an Exceedingly Rare Case and Review of the Literature

**Authors:** Mamika Kuribayashi, Tadahiro Isono, Yuichi Satake, Yuta Yokochi, Tomoki Kawamura, Ryosuke Kishi, Ryohei Koreyasu, Konomi Sakyo, Takahiro Watanabe, Takeshi Ueda, Masashi Nozawa, Mitsuhiro Tachibana, Kei Tsukamoto, Kazuyasu Kamimura, Hidetoshi Wada

PMC · DOI: 10.70352/scrj.cr.24-00543 · Surgical Case Reports · 2025-01-31

## TL;DR

A rare case of sebaceous carcinoma in a Japanese man with a BRCA2 mutation is reported, highlighting the need for further study of this uncommon breast cancer type.

## Contribution

This is the first reported case of sebaceous carcinoma of the breast in a Japanese male with a BRCA2 pathogenic variant.

## Key findings

- The patient had a BRCA2 pathogenic variant and was diagnosed with primary sebaceous carcinoma of the breast.
- The patient remains recurrence-free one year and five months post-surgery with no metastasis observed.
- The prognosis of sebaceous carcinoma of the breast remains unclear and requires further case accumulation.

## Abstract

Sebaceous carcinoma (SC) is a malignant neoplasm differentiated from the mature sebocyte and occurs mainly in the periorbital area. However, SC of the breast is extremely rare. We report a case of sebaceous breast carcinoma in a Japanese man with a BRCA2 pathogenic variant.

A 77-year-old Japanese man had been aware of a mass in his right breast for about a year and had visited his previous physician for a follow-up. Over the next year, the mass grew, and the last doctor he visited referred him to our hospital for further examination and treatment. Physical examination revealed a palpable 3-cm-large mass of the right breast. There was no skin invasion, and core needle biopsy revealed invasive ductal carcinoma cT2N1M0 cStage IIB, estrogen receptor (+)/progesterone receptor (+)/HER2/neu (–)/Ki-67 labeling index: 27.8%. His daughter had a history of breast cancer, and he had a BRCA2 pathogenic variant. The patient underwent a total right mastectomy and axillary lymph node dissection. Pathological diagnosis was primary SC of the breast, pT2N0M0, pStage IIA. His postoperative clinical course was good. Postoperatively, the patient received endocrine therapy and S-1 for 1 year and is currently receiving endocrine therapy alone. One year and 5 months have passed since the operation, with no recurrence or metastasis noted.

The prognosis of SC of the breast has not been elucidated. As cases of SC with a BRCA2 pathogenic variant are exceedingly rare, it will be necessary to continue accumulating cases in the future to understand this disease further. This research is essential to elucidating SC.

## Linked entities

- **Genes:** BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675]
- **Diseases:** sebaceous carcinoma (MONDO:0006962), breast cancer (MONDO:0004989)
- **Species:** Homo sapiens (taxon 9606)

## Full-text entities

- **Genes:** ERBB2 (erb-b2 receptor tyrosine kinase 2) [NCBI Gene 2064] {aka CD340, HER-2, HER-2/neu, HER2, MLN 19, MLN-19}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, ESR1 (estrogen receptor 1) [NCBI Gene 2099] {aka ER, ESR, ESRA, ESTRR, Era, NR3A1}, PGR (progesterone receptor) [NCBI Gene 5241] {aka NR3C3, PR}
- **Diseases:** SC of the breast (MESH:D001943), malignant neoplasm (MESH:D009369), metastasis (MESH:D009362), PRESENTATION (MESH:D001946), SC (MESH:D012626), invasive ductal carcinoma (MESH:D044584), pStage IIA (MESH:C536042)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11842163/full.md

## References

18 references — full list in the complete paper: https://tomesphere.com/paper/PMC11842163/full.md

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Source: https://tomesphere.com/paper/PMC11842163