# Paget's Presentation of High-Grade Ductal Carcinoma In Situ (DCIS) in a Very Young Female With Breast Cancer 2 (BRCA2) Mutation

**Authors:** Sneha Butala, Chancée Forestier, Sugeetha Nithiananthan, Asilis J Defran, Nafisa K Kuwajerwala

PMC · DOI: 10.7759/cureus.54678 · Cureus · 2024-02-22

## TL;DR

A young woman with a BRCA2 mutation presented with Paget's disease and ductal carcinoma in situ, leading to mastectomy and ongoing surveillance.

## Contribution

This case highlights the rare presentation of high-grade DCIS in a very young BRCA2 mutation carrier with Paget's disease.

## Key findings

- The patient had Paget's disease of the nipple with high-grade DCIS confirmed by biopsy.
- A BRCA2 gene mutation was identified through genetic analysis.
- The patient underwent mastectomy and plans for surveillance and prophylactic surgery were made.

## Abstract

This is a case of a previously healthy 29-year-old female with erythema and skin excoriations of the left breast nipple-areolar complex (NAC). After a repeat trial and failure of topical hydrocortisone, a diagnostic mammogram and nipple biopsy revealed Paget's disease (PD) of the nipple with ductal carcinoma in situ (DCIS). A subsequent genetic analysis found a breast cancer 2 (BRCA2) gene mutation. Treatment consisted of a left breast skin-sparing simple mastectomy with sentinel lymph node (SLN) biopsy and immediate tissue expander placement for implant reconstruction. Further management involved right breast short-interval surveillance with annual mammography and magnetic resonance imaging (MRI) with the possibility of prophylactic surgery along with oophorectomy after childbearing.

## Linked entities

- **Genes:** BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675]
- **Chemicals:** hydrocortisone (PubChem CID 5754)
- **Diseases:** Paget's disease (MONDO:0021165), ductal carcinoma in situ (MONDO:0005023), breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}
- **Diseases:** NAC (MESH:C000626393), PD (MESH:C537701), erythema (MESH:D004890), skin excoriations (MESH:D012871), -areolar complex (MESH:C535358), DCIS (MESH:D002285)
- **Chemicals:** hydrocortisone (MESH:D006854)

## Full text

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## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10960524/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC10960524/full.md

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Source: https://tomesphere.com/paper/PMC10960524