Johns Hopkins Medicine orthopaedic oncologist and surgeon Albert Aboulafia recently published a case study about a patient with a highly unusual condition, in which nodular fasciitis spread to other parts of her body.

Nodular fasciitis is almost always benign and self-limiting, and this transition has been documented only a handful of times, he says. The report shines light on the rare condition, underscoring the importance of recognizing and treating it. 

Nodular fasciitis almost always presents as a single lump in the subcutaneous fat layer or fascia adjacent to muscles in the extremities. It is self-limiting and benign, generally receding without treatment.

But a patient referred to Aboulafia in 2003 had a distinctly different experience. The lump in her right thigh grew and eventually metastasized to other parts of her body. It wasn’t cancer, but it behaved as though it were malignant, and Aboulafia had never seen anything like it.

“This particular patient had a very aggressive and previously undescribed condition,” says Aboulafia, associate professor of orthopaedic surgery and a leader in orthopaedic oncology. “To call it nodular fasciitis really doesn't do it justice, so I made up the name malignant nodular fasciitis.”

The term, he says, describes a tumor that behaves as though it is malignant yet has a microscopic structure indicating it is benign.

“When you look at it under the microscope, it looks like run-of-the-mill nodular fasciitis. But instead of the tumor just regressing by itself, not only did it continue to grow, but it spread to other parts of the body.”

When the patient was referred, she was 40 and had a mass in her right thigh causing discomfort. A biopsy confirmed that it was nodular fasciitis, but in late 2004, she developed pain and lost sensation in her right leg. MRIs showed that the mass was growing.

Molecular analysis showed a unique gene fusion rearrangement, protein phosphatase 6 regulatory subunit 3 (PPP6R3)-USP6, thought to account for the unusual behavior.

Aboulafia first co-authored a report about the pathology in 2016 in Genes, Chromosomes and Cancer. “That was to see if anyone else had a similar experience,” he says. “There was nothing.”

Over the years, he presented the case in conferences and consultations. “Nobody had seen or heard of anything like it,” he says. The new case study, published in January 2026 in Frontiers in Oncology, discusses the patient’s clinical course and implications for future discovery and treatment of the anomaly.

Therapies, administered in collaboration with medical oncologists, included temozolomide, which didn’t seem to yield any benefits, followed by pazopanib in 2021, which caused the lesions to shrink and her condition to stabilize. However, in 2023, an MRI revealed a large mass on her shoulder, and she began taking sunitinib for pain relief.

Aboulafia treated the patient for 21 years, until she died of liver failure that was likely unrelated to the fasciitis, he says, because there were no signs of tumor in her liver.

Orthopaedists regularly see patients with nodular fasciitis and expect it to go away on its own. This case, says Aboulafia, shows that that’s not always true.

“If it doesn’t self-regress, you can’t just ignore it,” he says. “You have to study it by using more sophisticated analysis, which is this molecular profiling. If patients don’t have resolution of their nodular fasciitis, they need follow-up.”

Medically reviewed by Albert Aboulafia, M.D.