The Desmoid Tumor Research Foundation

November 2024

Diaphragmatic Fibromatosis: A Diagnostic and Therapeutic Challenge: A Case Report and Review of the Literature

Author Information

Omar Hamdy 1, Reem Ayman 2, Randa Abdelaal 2, Ransy Elhadidy 2, Mariam Tarek 2, Gehad Ahmad Saleh 3, Sara Rafat 4

1Surgical Oncology Department, Oncology Center, Mansoura University, Mansoura, Egypt. 2Faculty of Medicine, Mansoura University, Mansoura, Egypt. 3Department of Radiology, Faculty of Medicine, Mansoura University, Mansoura, Egypt. 4Department of Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Publication

J Chest Surg

Summary

Diaphragmatic fibromatosis is an exceptionally rare condition, with only 2 previously reported cases in the literature. We present the case of a 23-year-old woman with a left hypochondrial swelling measuring 19×18×13 cm on computed tomography. An endoscopic ultrasound-guided biopsy indicated low-grade papillary proliferation. Surgical exploration revealed a large mass originating from the left hemidiaphragm. Complete excision of the mass and reconstruction of the diaphragm with double-layer mesh were performed. Microscopic examination of the mass revealed a bland-looking spindle cell proliferation. Immunohistochemical staining showed a positive nuclear reaction in tumor cells for β-catenin, a focal positive reaction for SMA, and negative reactions for S100, CD34, and desmin. Diaphragmatic fibromatosis is an extremely rare tumor for which complete excision and reconstruction of the diaphragm is the best suggested modality of treatment.

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