Giant thoracic neurofibromatosis type 1 with massive intratumoral haemorrhage: a case report.

Abstract

A 44-year-old man known to have neurofibromatosis type 1 (NF1) presented with an acute enlargement of a long-standing pedunculated thoracic mass and a 4.5 kg weight gain. He was recently treated with anticoagulation for a newly diagnosed atrial fibrillation. Intratumoral bleed was thus suspected to explain the sudden enlargement. Chest computerised tomography confirmed the presence of a large extrathoracic tumour of soft tissue density compatible with a diagnosis of neurofibromatosis and a recent massive intratumoral haematoma. Perioperative angiography demonstrated remarkable hypervascularity. The treatment plan involved embolisation and surgical resection. The histological specimen confirmed a diagnosis of neurofibromatosis type I without malignant transformation. Neurofibromatosis associated with an intratumoral haemorrhage is rare. This is the first scientific report of a massive intratumoral bleed in NF1 subsequent to anticoagulant administration. Anticoagulation should be monitored very closely in neurofibromatosis patients due to their propensity to bleed secondary to the abnormal vascular intima.