Intrathoracic extramedullary haematopoiesis mimicking pulmonary malignancy in two patients with thalassaemia: A case series
Kevin Aristyo, Arini Purwono, Dea Putri Audina, Ginanjar Arum Desianti, Tina Reisa, Hayatun Nufus, Jamal Zaini, Fariz Nurwidya, Eylin Rahardjo, Mia ElhidsiAbstract
Introduction
Extramedullary haematopoiesis (EMH) is the formation of haematopoietic tissue outside the bone marrow in response to ineffective erythropoiesis, as occurs in thalassaemia. Within the thorax, it forms posterior mediastinal or paravertebral masses that can mimic malignancy.
Case Presentation
We report two patients with thalassaemia in whom thoracic masses were initially interpreted as suggestive of malignancy. A 59-year-old woman with beta-thalassaemia presented with progressive dyspnoea, severe anaemia, a right paravertebral mass and a left pleural effusion. A 47-year-old man with beta-thalassaemia intermedia with haemoglobin E presented with chronic dyspnoea and bilateral posterior mediastinal masses suggestive of lymphoma. In both, tumour markers were non-contributory and histopathology of percutaneous and transbronchial specimens showed haematopoietic cells with megakaryocytes, confirming the diagnosis.
Discussion
The radiological appearances overlapped with malignancy, but non-contributory tumour markers and tissue sampling established the diagnosis. Both patients were managed with transfusion and supportive haematological therapy rather than resection, with symptomatic improvement.
Conclusion
EMH should be considered for thoracic masses in patients with haemoglobinopathy, since tissue confirmation prevents unnecessary surgical or oncological interventions.