The 8p12 myeloproliferative syndrome

Abstract

The occurrence of a myeloproliferative disorder in association with an aggressive lymphoproliferative disorder is a distinctly unusual phenomenon. We report a case of concurrent leukaemia-lymphoma syndrome characterized by a BCR/ABL-negative myeloproliferative disease, eosinophilia and a lymphoma. The bone marrow chromosome analysis showed the karyotype 46, XY, t(8;9) (q12; p33), which indicated presence of FGFR1 gene translocations. 8p12 myeloproliferative syndrome (EMS) / stem cell leukaemia-lymphoma syndrome (SCLL) belongs to the tyrosine kinase fusion genes chronic myeloproliferative diseases. The patient was managed conservatively with hydroxyurea, allopurinol and blood component therapy. The patient eventually died of intracerebral haemorrhage due to severe thrombocytopaenia. Based on our experience the overlap in the clinical presentation of this disease with lymphomas, can lead to a delay in diagnosis of EMS/SCLL. Given the aggressive nature of this disease, an accurate clinical and molecular diagnosis of this entity has become increasingly important.

Keywords: Eightp myeloproliferative syndrome, stem cell leukaemia lymphoma syndrome