# Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node

## TL;DR

This case report presents a rare instance of ovarian cancer metastasizing to axillary lymph nodes and identifies two novel gene mutations that may explain the metastasis and drug resistance.

## Contribution

The first report of a comprehensive gene profile for ovarian cancer metastasis to axillary lymph nodes, including two novel mutations.

## Key findings

- Two novel missense mutations, D326E in BTK and D251E in EPHA5, were identified in the ovarian cancer case.
- The mutations may contribute to metastasis to axillary lymph nodes and drug resistance in ovarian cancer.
- The study provides insights into the genetic mechanisms of tumor metabolism and metastasis in this rare scenario.

## Abstract

Ovarian cancer is among the most lethal gynecologic malignancies, with a high proportion of patients diagnosed at advanced stages, leading to poor survival outcomes. Axillary lymph node metastasis from ovarian cancer is extremely rare and the mechanism is still unclear.

A comprehensive set of clinical and gynecologic oncology assessments were performed, including ultrasound, mammography, MRI, transvaginal ultrasound, and tissue staining. To unravel the carcinogenesis, the next-generation sequencing (NGS) was performed.

Conventional examinations and imaging suggested the presence of both occult breast cancer and ovarian cancer. However, immunohistochemical staining confirmed the diagnosis of high-grade serous ovarian carcinoma. Further analysis of NGS identified two novel missense mutations, D326E in BTK (Bruton’s tyrosine kinase) at SH2 domain and D251E in EPHA5 (EPH receptor A5), along with other known cancer- associated mutations. These mutations, particularly the novel missense mutations, may lead to metastasis to the axillary lymph nodes and drug resistance. Therefore, based on these findings, the chemotherapy regimen was adjusted accordingly.

This is the first report on the panorama gene profile of ovarian cancer metastasis to axillary lymph node and we found two novel mutations (BTK pD326E and EPHA5 pD251E). This study unraveled the potential mechanism of genetic mutation for tumor metabolism, drug resistance, and metastasis.