A study participant during oral brushing.

Study title: Detection of pre-malignant changes in Fanconi anemia mucosa

Principal Investigator: Francis May, MD          Co-Principal Investigator: Agata Smogorzewska MD, PhD

Institution: The Rockefeller University

Participants:  Adults with Fanconi anemia

Cancer in Fanconi anemia:

Fanconi anemia (FA) is a genetic disease caused by a failure of the body to repair damaged DNA (genetic material). This can lead to changes in the DNA, known as mutations. Due to these mutations, patients with FA have a high risk of cancers, especially a type of cancer known as squamous cell carcinoma (SCC). This cancer is 500-fold more common in FA patients than in the general population and appears at an earlier age in FA patients.

most SCCs in FA patients occur in the mouth and are typically preceded by visible lesions, they can be detected early, at a stage in which it is localized and resectable. Therefore, it is very important that FA patients are examined frequently to detect oral lesions. If an oral lesion is suspected to be abnormal, the doctor must take a surgical biopsy for an accurate diagnosis. FA patients may have multiple lesions in their mouth. As these cannot all be surgically biopsied or removed, a new noninvasive method for cancer diagnosis is in development – a brush biopsy.

Brush biopsy:

Brush biopsy allows for the easy, noninvasive collection of cells from the mouth, using a brush resembling a toothbrush, and can be used to sample multiple places in the mouth. The cells collected can be analyzed according to their appearance and for the presence of mutations. This will aid in diagnosis of precancerous or cancerous cells and guide the need for a surgical biopsy.

What is the purpose of our study?

reason for doing this research is to find early changes in the mouth cell lining (mucosa) from patients with FA which would allow for early and noninvasive detection of a common cancer called cancer called squamous cell carcinoma.

Who is eligible to participate?

We are looking to recruit patients with a diagnosis of Fanconi anemia above the age of 12 years, as well as adult healthy volunteers. You will be compensated for participating in the study.

What happens during the study?

We will examine your mouth and record it using a camera. We will collect cells using a brush from multiple locations in the mouth, from normal-appearing areas in the mouth, and from abnormal looking areas (if any are present). We will look for changes in the cells’ appearance and genetic material (mutations). We will compare samples from FA patients to brush samples from healthy volunteers without FA.
In addition, a blood sample (about two tablespoons) will be taken for genetic testing and additional cancer marker screening. A skin biopsy will be performed in FA patients post bone marrow transplantation.
Using patient samples, we want to understand the disease so we can develop new preventive and treatment strategies as well as noninvasive early detection of cancer.

Interested in Participating?

To get involved, you should contact our study coordinator. We will review the study with you in more detail, arrange for you to sign the necessary paperwork if you choose to participate and schedule an appointment at The Rockefeller University Clinical Research Center where we will collect your or your child’s samples.

Questions 

Please contact:

Name: Agata Smogorzewska
Email: asmogorzewska@rockefeller.edu
Telephone: 212 327 7850

A member of the study team may assist by reading the study information and answering questions.