September was Desmoid Tumor Awareness Month, a month designed to raise awareness and spread education about desmoid tumors. Additionally, during this month, patients, family members, doctors, and other organizations helped raise awareness of the need for increased research and funding within this sphere.

Although September is over, it remains incredibly important to bring information about desmoid tumors to the forefront of discussion. To best assist patients, we need to ensure that everyone has accurate insight into the diagnostic and treatment process. And to advance research, there needs to be collaboration within the medical community as a whole.

I recently sat down and spoke with Dr. Alessandra Maleddu, a medical oncologist, to discuss what desmoid tumors are, the current treatment landscape, misconceptions about desmoid tumors, and advice for patients.

About Dr. Alessandra Maleddu, MD

Dr. Alessandra Maleddu, MD is an Associate Professor of Oncology at the University of Colorado Anschutz School of Medicine, as well as a medical oncologist who works exclusively on sarcoma patients.

Dr. Maleddu performed most of her specialist training in Italy. During her clinical training, she was introduced to the sarcoma world – and became fascinated by it. She began working with a research team in Oregon on gastrointestinal stromal tumors (GISTs).

In 2020, Dr. Maleddu was given a clinical fellowship in sarcoma at the University College Hospital London, where she also worked as a locum consultant. While she enjoyed this work, Dr. Maleddu moved to Colorado in 2022 because she felt that the sarcoma team at UC Anschutz has worked on some very interesting research in this field.

Why Study Medical Oncology?

Dr. Maleddu specializes in medical oncology. When asked why she chose to focus on this field, she explains:

In general, I was fascinated by molecular and cellular biology. I just wanted to study more about the mechanisms which tell cells to stop replicating and how that actually gets lost with cancer. Cancer cells can divide indefinitely and escape the immune system. I wanted to understand how to interrupt this replication and really work on bringing better care and service to patients. Plus, I think we really need more people in oncology who are willing to learn this and to share it with patients. There is so much information online that isn’t always accurate, so my specialization helps me address any questions my patients may have.

For our specific interview, Dr. Maleddu and I focused on desmoid tumors: symptoms and characteristics, misconceptions, and the treatment landscape.

What is a Desmoid Tumor?: An Overview

Desmoid tumors are rare, abnormal growths (tumors) that form in connective tissue. Normally, connective tissue helps provide strength and support to our organs and muscles forms ligaments, cartilage and bones. The cells which make connective tissue also play an important role in scarring and wound healing.

While these tumors can cause a number of health issues and even become life-threatening, they are not considered to be cancer. Desmoid tumors do not metastasize and cannot spread to distant parts of the body. Most people who develop a desmoid tumor will only have one tumor form. In rarer cases, people may have more than one tumor.

An estimated 1,000-1,500 people develop a desmoid tumor each year in the U.S. These tumors are more common in females, as well as in those between ages 20-40. Currently, doctors don’t know what causes desmoid tumors; most are sporadic. However, Dr. Maleddu shares:

There are a subset of people with desmoid tumors where the tumor grows along a C-section scar. Not everyone who is pregnant or has a C-section will have a desmoid tumor. But we think that the hormonal environment during pregnancy can facilitate the growth of this tumor, and desmoid tumors develop from the same cells as scar tissue and wound healing. In a normal wound, when healed, there’s a ‘stop’ signal to stop cell proliferation. In desmoid tumors, that signal is lost. Other times, we see the tumor growing after trauma or surgery.

Still, Dr. Maleddu shares, the natural history of desmoid tumors is still somewhat unknown because its behavior cannot be predicted. Out of everyone who develops a desmoid tumor, Dr. Maleddu states that around ⅓ will have disease stability, ⅓ will see their tumor grow, and ⅓ will experience spontaneous regression.

Desmoid Tumor Causes, Symptoms, and Treatment

According to the Desmoid Tumor Research Foundation, around 90% of desmoid tumors occur sporadically and have CTNNB1 gene mutations. Dr. Maleddu also shares that in a minority of patients, these tumors are linked to a condition called familial adenomatous polyposis (FAP). Those with FAP who develop desmoid tumors are most likely to develop these tumors within the abdominal cavity.

Symptoms vary based on the tumor’s location. These can (but do not always) include:

• A mass or swollen area
• Cramping or nausea
• Difficulty moving the arms/legs
• Pain
• Joint movement restrictions
• Limping
• Urinary or gynecological issues
• Constipation

If you are experiencing any abnormal symptoms, Dr. Maleddu shares that it is important to get checked as soon as possible:

Anything in your body the size of a golf ball really needs to be checked. An ultrasound can give you an approximate diagnosis, but you can’t tell that it’s a desmoid tumor until you get a biopsy.

Treatment options include cryoablation, chemotherapy, while surgical resection is used less and less and in selected cases, among others. However, an estimated 30-50% of patients see tumor recurrence within five years following surgery.

Join us in Part 2 as we discuss barriers to care, addressing desmoid tumor myths and misconceptions, future research, and advice for those who are newly diagnosed.