Intrathoracic extramedullary hematopoiesis presenting as tumor-simulating lesions of the mediastinum in α-thalassemia: A case report

Abstract

Extramedullary hematopoiesis (EMH) is a rare disease, where hematological disorder drives extramedullary hematopoietic tumor formation in multiple regions of the body. The present study reports a case of EMH presenting as multiple tumor-like lesions of mediastinum in a 61-year-old male with α-thalassemia, which was subjected to a video-assisted thoracoscopic surgery tissue biopsy to differentiate it from other mediastinal tumors. To date, only three cases of EMH in patients with α-thalassemia have been described in the literature. Patients with EMH typically exhibit no hematological disorder preoperatively and therefore EMH is frequently misdiagnosed. In the present study, along with a literature review of the clinicopathological features of EMH, the diagnosis and treatment of this rare case was discussed, in order to differentiate diagnosis, and particularly to distinguish EHM from extramedullary myeloid sarcoma.

Paraspinal extramedullary hematopoiesis in alpha-thalassemia with concurrent monoclonal gammopathy of undetermined significance: an uncommon case report

“…4,6 Sometimes, soft tissue masses can develop in the paravertebral regions, that cause no symptoms at all and are usually diagnosed by chance. 1 The development of extramedullary hematopoiesis in the clinical context of thalassemia is well documented. [1][2][3]6,7 For this reason, in the presence of anemia in combination with a paraspinal mass the diagnosis of EMH should be considered.…”

“…1 The development of extramedullary hematopoiesis in the clinical context of thalassemia is well documented. [1][2][3]6,7 For this reason, in the presence of anemia in combination with a paraspinal mass the diagnosis of EMH should be considered. It was this specific combination that eventually led to the diagnosis of the hemoglobin H disease, although the presence of the monoclonal hypergammaglobulinemia complicated the diagnostical process.…”

“…5 In case of a large mass of EMH, recurrent blood transfusions have been shown to result in its shrinkage. 1 However, this comes with the price of iron overload. Radiotherapy is an alternate treatment option, as well as surgical excision, hydroxyurea or a combination of these options.…”

“…It is usually associated with various hematologic disorders, including thalassemia. [1][2][3][4] Hemoglobin H disease is a type of a-thalassemia consisting of the loss of 3 genes (--/-a) and is often manifested as a mild anemia with thalassemic morphological changes and the existence of erythrocyte inclusions. Hemoglobin H is a tetramer composed of four beta globin chains and a great decrease in alpha chain availability.…”

Intrathoracic extramedullary hematopoiesis as a posterior mediastinal tumor: a case report

“…EMH usually occurs as a response to bone marrow erythropoiesis fault and it can be seen in myeloproliferative disorders, hemoglobinopathies or bone marrow infiltration [1]. In most cases, it is situated in the posteroinferior mediastinum, and usually accompanied by chronic hemolytic anemia presenting in a male adult predominantly.…”