Helping Diagnose BHD Syndrome Associated Kidney Cancer

We were delighted to award Mindy Wang a travel grant to present her work at the ASCO GU Cancer Symposium earlier this year. Mindy shared her experience at the conference and explained her work in the blog below.

I am a researcher at the Michigan Center for Translational Research, University of Michigan. I study different types of kidney cancers with a team of doctors. Our goal is to make the diagnosis of kidney cancer more accurate and to develop better treatments for patients.

I was delighted to receive the travel grant from the Myrovlytis Trust (who run the BHD Foundation). With the generous funding support, I attended the ASCO GU Cancer Symposium in San Francisco in February 2023. This conference focuses on cancers in the urinary system, including kidney cancer. At the conference, healthcare providers and scientists share new findings on cancers. We discuss about the biology, diagnosis, and care of cancers.

I presented my research on Birt-Hogg-Dubé syndrome (BHD) associated Hybrid Oncocytic Tumour (HOT) of kidney. This type of tumour is challenging to diagnose. I found two protein markers that can help identify HOT and distinguish it from other types of kidney tumours. 

BHD is a condition that increases the chances of getting kidney cancer. The most common types of kidney cancer that people with BHD get are chromophobe renal cell carcinoma (chRCC), oncocytoma and HOT. chRCC is an aggressive type of kidney cancer. Oncocytoma and HOT are non-cancerous tumours. Doctors called pathologists identify what type of tumour someone has by looking at the cancer cells under a microscope. Under the microscope, chRCC tumour cells are large with clear cell borders, and they may look pink or clear. Renal oncocytoma cells are round and pink. HOT tumour cells look like they have features of both chRCC and renal oncocytoma. This mixture of different cells makes it difficult to diagnose HOT. It is also unclear if the overlapping features means these tumours share commonness at RNA and protein level.

To help doctors diagnose HOT, I compared the RNAs (genetic materials that help cells make proteins) of chRCC, oncocytoma, and HOT. I found two protein markers, one expressed in the chRCC-like tumour cells and one in the oncocytoma-like tumour cells, in HOT. Both markers have a specific pattern in HOT that is different form chRCC and oncocytoma. These markers can help doctors tell if someone has HOT or a different type of kidney tumour.

To learn more about HOT, we used these markers to separate the RNAs from the two different types of tumour cells found in HOT. We compared the RNAs from the two types of tumours in HOT. We also compared the RNAs to chRCC and oncocytoma. We discovered that the RNAs from the two types of tumours in HOT are different from each other, and also different from chRCC and oncocytoma, even though the tumour cells look similar. This study helps us find out which proteins are changed in HOT. This information can help create new treatments that focus on these important proteins.