The Mysterious Abdominal Mass

Document Type

Conference Proceeding - Restricted Access

Publication Date

5-9-2025

Abstract

Desmoid tumors are rare soft-tissue tumors most commonly arising in the abdomen, abdominal wall, and extremities. Despite their lack of metastatic potential, desmoid tumors exhibit unpredictable growth patterns, leading to significant morbidity due to local invasion and mass effect. They are associated with mutations in the APC or CTNNB1 genes, implicating aberrant Wnt/β-catenin signaling in their pathogenesis. Desmoid tumors can occur sporadically or in association with familial adenomatous polyposis. Managing desmoid tumors remains challenging due to a high rate of local recurrence, with treatment strategies including active surveillance, pharmacologic therapies, radiation, and surgical resection. In this study, we examine the presentation of an abdominal mass and the radiological workup that led to the diagnosis of a biopsy-proven desmoid tumor.

Patient is a 35-year-old female who presented with a painful mass in the right upper abdominal wall. Patient was otherwise asymptomatic. Abdominal ultrasound (US) showed a 2.4cm non-homogeneous structure in the left rectus abdominis muscle with a small amount of peripheral blood flow. US findings were nonspecific, so the plan was to repeat US in 6 weeks. Follow-up US showed increased vascularity and increasing complexity of the mass, raising concerns for malignancy. MRI showed enhancing, non-fat-containing mass with 2 closely related lesions in the right rectus abdominis muscle with possible extension into the bowel. However, a subsequent CT scan demonstrated that the mass was not invading the nearby bowel. Interventional radiology was consulted for biopsy, and pathology results confirmed a desmoid tumor.

Resection of the masses was recommended. General Surgery performed resection the masses and patient tolerated the procedure without complications. Patient will undergo follow-up imaging on a biannual basis, with the interval extended if subsequent imaging remains negative for recurrence.

Desmoid tumors, also known as aggressive fibromatosis, are rare, locally invasive soft-tissue tumors. Given their rarity and complex behavior, ongoing research is focused on elucidating their molecular drivers and optimizing therapeutic approaches to minimize morbidity while preventing recurrence. This study demonstrates how a desmoid tumor can present clinically and highlights the radiological and clinical workup that can lead to their diagnosis.

Comments

2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1692

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