the 8p12 myeloproliferative syndrome ( ems)/stem cell leukaemia / lymphoma ( scll ) is a relatively rare condition characterised in its typical form by the occurrence , either simultaneously or sequentially , of a bcr / abl - negative myeloproliferative disorder , eosinophilia and a lymphoma , usually a precursor t - lymphoblastic lymphoma . the disease is aggressive and rapidly transforms to acute leukaemia , usually of myeloid phenotype in a median of 6 months.1 when ems / scll was first identified as a syndrome in the early - mid 1990s , cases were included which met both cytogenetic and clinical criteria , namely a translocation involving 8p11 - 12 and usually 13q11 - 12 as well as an atypical myeloproliferative syndrome diagnosed simultaneously with or in close temporal relationship to an immature t - cell lymphoma . except for occasional patients who underwent bone marrow or peripheral stem cell transplantation , these patients typically developed and succumbed to aml . in more recent years , the designation of ems has been applied to any case in which a translocation involving 8p11 - 12 ( fgfr1 ) has been demonstrated . at least eight partner genes in the fgfr1 translocation have been identified , and the clinical manifestations are nearly as varied as the number of reported cases.2345678910 the t(8;9 ) ( p12;q33 ) is a variant of the translocation t(8;13 ) ( p12;q12).1 this disease is aggressive and survival is very short ( median survival 12 months ) . cytogenetic analysis remains the mainstay of diagnosis and currently , only allogeneic stem cell transplantation appears to be effective in eradicating or suppressing the malignant clone . a 49-year - old man presented with generalised lymphadenopathy , difficulty in breathing due to cervical nodal enlargement over the prior 5 months . he also reported several systemic symptoms including malaise , drenching night sweat and generalised arthralgia . at admission , enlarged lymph nodes that were fixed , discrete and elastic were palpated in neck , axillary and inguinal areas . ct scan demonstrated multiple bilateral nodes in the parotid , submandibular , supraclavicular , cervical and deep to the sternocleidomastoid at the levels of the suprahyoid , intrahyoid and cricoid cartilage . a complete blood count revealed a hemoglobin level 13g / l , a platelet count 90  10/l , a white cell count 59  10/l with 6% promyelocytes , 2% myelocytes , 4% metamyelocytes , 5% bands , 9% neutrophils , 40% eosinopils , 4% basophila , 18% monocytes and 10% lymphocytes [ figure 1a ] . peripheral blood film and bone marrow aspirate bone marrow aspiration done showed a hypercellular ( ~90% ) marrow with active myeloid lineage and moderate eosinophilia and monocytosis . there was no marked erythroid dysplasia and blasts were not increased [ figure 1b ] . meanwhile , a biopsy of a submental lymph node done was suggestive of an angioimmunoblastic lymphoma . the differentials on admission included chronic myelomonocytic leukaemia , hypereosinophilic syndrome and leukaemia - lymphoma syndrome . patient 's clinical condition improved with complete regression of lymph nodes and normalisation of blood picture . in hamburg university , germany , cytogenetic analysis of the bone marrow aspirate done showed the following karyotype : 46 , xy , t(8;9)(p12;q33 ) , bcr- abl rearrangement was not detected by polymerase chain reaction . he subsequently had a relapse and developed resistance to hydroxyurea with increasing wbc count , anaemia and thrombocytopaenia [ table 1 ] , he died of intracerebral haemorrhage secondary to severe thrombocytopaenia 8 months after presentation before he could have a stem cell transplant . concurrent myeloid and lymphoid malignancies are quite uncommon . the case detailed above exhibits many features typical of the ems / scll , including male sex ; constitutional symptoms at presentation ; an aggressive lymphoma with generalised lymphadenopathy which spares the mediastinum ; peripheral blood leukocytosis and eosinophilia ; bone marrow myeloid hyperplasia ; development of acute leukaemia which is resistant to standard chemotherapy ; and a chromosome karyotype with the defining 8p11 - 12 translocation.11 the characteristic chromosomal translocation always involves the fibroblast growth factor receptor 1 ( fgfr1 ) gene at chromosome 8p11 - 12.2 normal fgfr1 [ figure 2 ] is a trans - plasma membrane protein with an extracellular ligand - binding domain , a transmembrane domain and a cytoplasmic tyrosine kinase domain . fgfr1 and its relatives fgfrs 2 - 4 play important roles in early development , in conjunction with their ligands , the fibroblast growth factors ( fgfs ) , of which there are currently more than 20 members.12 fgfrs may also impact on haemopoiesis , although their role in this context has not been clearly defined.13 diagram of normal fgfr in their inactive state , receptors such as fgfr1 are thought to exist as monomers in the plasma membrane . binding of fgf ligands induces dimerization , which juxtaposes the two catalytic domains , inducing a conformational change which partially activates the enzymatic activity . this leads to transphosphorylation of a key tyrosine residue in the activation loop resulting in an increase in enzymatic activity , phosphorylation of additional tyrosines and subsequently phosphorylation and/or recruitment of target substrates.1214 normal fgfrs activate multiple signalling pathways including those involving ras / mapk , p13k , plc and stat proteins . the t(8;9)(p12;q33 ) distrupts exon 8 of the fgfr1 gene and fuses leucine zippers domain of the cep110 gene with the cytoplasmic tyrosine kinase domain of fgfr1.1 oligomerisation of the fusion protein occurs , which mimics the initial stage of normal tyrosine kinase activation , with subsequent activation of downstream signal transduction pathways , culminating in neoplastic cell transformation . all of the fusion transcripts studied thus far has been shown to have constitutive , ligand - independent tyrosine kinase activity . these pathways and the fusion proteins are attractive targets for targeted signal transduction therapy.111 at least 8 partner genes in the fgfr1 translocation have been identified [ table 2 ] , and the clinical manifestations are nearly as varied as the number of reported cases.2345678910 for example , two patients with a t(6;8 ) and a fop - fgfr1 fusion were diagnosed initially as having polycythemia vera.4 thrombocytosis and monocytosis have been described relatively frequently in patients with a t(8;9 ) , and thus the disease with this translocation resembles cmml but without major dysplastic signs in either lineage.215 the incidence of t - nhl appears to be considerably higher in cases that present with a t(8;13 ) compared to patients with variant translocations . for example , in a recent survey 13/16 patients with a t(8;13 ) had t - nhl compared to 3/11 patients with a t(6;8 ) or t(8;9).13 cytogenetic analysis remains an important front - line test in suspected cases . fgfr1 gene fusion partners ems has features that are similar to other well defined mpds like cml and cmml as seen in the above case . also in addition it is frequently associated with t - cell and less commonly b cell nhl , there is often a difficulty of diagnosis as illustrated in the present case . at presentation , however , the peripheral blood picture was similar to cmml ; given the dearth of facilities for cytogenetic analysis in our environment this resulted in a delay in diagnosis of this patient . another challenge we faced was in the treatment options , in view of the simultaneous expression of myeloid and lymphoid lineage features , consideration of chemotherapeutic regimens is similar to that of bi - phenotypic leukaemia . as a result , we chose treatment that was based on cytoreduction . steroids were included in the induction phase and remission was achieved for both leukaemia and lymphoma . we believe allogeneic stem cell transplantation is an effective , although risky treatment option and an accurate and timely diagnosis of this condition will leave room for this option .
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 .