# Case report: Characterization of the immunologic and molecular landscape in a unique presentation of invasive lobular carcinoma with concurrent uterine carcinosarcoma treated with immunotherapy

## TL;DR

A patient with invasive lobular breast cancer and uterine carcinosarcoma was treated with immunotherapy and showed unique molecular and immune features.

## Contribution

This case report characterizes the molecular and immunologic features of a rare concurrent presentation of ILC and uterine carcinosarcoma treated with immunotherapy.

## Key findings

- The patient had a CDH1 mutation in ILC and a PI3KCA mutation in uterine carcinosarcoma.
- The tumor immune microenvironment showed increased cytotoxic NK cells.
- Immunotherapy was effective in treating the uterine carcinosarcoma.

## Abstract

Invasive lobular breast cancer (ILC) is characterized by a relatively high risk for late recurrence and a unique metastatic pattern with an increased risk for metastasis to gynecologic organs and peritoneum. We present a unique case of recurrent ILC with metastasis to the abdominal peritoneum as well as the uterine myometrium and cervix. Treatment was complicated by the discovery of concomitant uterine carcinosarcoma. This patient was effectively treated with a combination of hormonal therapy for her metastatic ILC and a combination of chemotherapy and immunotherapy for uterine carcinosarcoma. Molecular evaluation revealed a characteristic CDH1 mutation within the ILC and a PI3KCA mutation within the uterine carcinosarcoma, both of which have been linked to epithelial-to-mesenchymal transitions. Examination of the tumor immune microenvironment revealed proportionally more cytotoxic NK cells. This robust immune infiltration may be an indicator of the response to immunotherapy observed in this tumor or a result of the metastatic breast cancer within the uterus. This report provides a characterization of the molecular and immunologic landscape in this case with metastatic ILC and uterine carcinosarcoma.