Primary malignancies mistaken for pseudotumours in haemophilic patients

Abstract

Pseudotumours are a rare complication of haemophilia. Surgery undertaken for pseudotumour on a lesion that is subsequently found to be malignant can be expected to adversely affect patient outcome. We present six case reports found from a literature search of patients with haemophilia who underwent surgery on what was a primary malignancy misdiagnosed as a pseudotumour and give a subsequent discussion.

Pseudocystic dermatofibrosarcoma protuberans: report of two cases and demonstration of COL1A1‐PDGFB rearrangement

“…In the lung, cystic change has been seen in metastatic endometrial stromal sarcoma 20,21 and primary pleuropulmonary synovial sarcoma 22 . A cystic/pseudocystic presentation has also been described in synovial sarcoma, 23–25 although cysts with associated hemorrhage in this setting can also be as a result of vascular rupture of the hemangiopericytoma‐like architecture sometimes encountered 26 . Finally, pseudocystic evolution has been reported in a case of fibroblastic sarcoma of the small bowel mesentery.…”

Bone haemophilic pseudotumour of the ulna: A rare complication of haemophilia in a dog

“…Whatever its origin, as swelling progresses, pressure increases within the haematoma leading to local pain (50%) and destruction of the adjacent structures with potential severe complications such as skin necrosis, infection, fistulisation, neurovascular compression (17%), fracture (17%-28%), and uncontrollable bleeding (3, 5-7, 9, 22, 23). As primary malignancies can be mistaken for a haemophilic pseudotumour, a high index of suspicion is important to avoid such a diagnostic pitfall with its subsequent dire consequence (24). Avoiding fine needle aspiration or biopsy is of paramount importance when a haemophilic pseudotumour is suspected because of the high prevalence of post-aspiration complications, including life-threatening bleeding, fistula formation, and infection (7,24).…”

Pelvic haemophilic pseudotumour in a patient with haemophilia

“…It is important to investigate primary malignancies, as mass lesions could be mistaken for pseudotumours of haemophilia, as there are reports for malignancies such as sarcomas and non-Hodgkin's lymphoma may mimic a pseudotumour in haemophilia patients 1. Preoperative biopsy is contraindicated so surgical excision was performed for final diagnosis and treatment.…”