essential thrombocythemia ( et ) is a philadelphia chromosome ( ph)-negative myeloproliferative neoplasm ( mpn ) .
it is characterized by thrombocytosis and megakaryocytic hyperplasia of the bone marrow with jak2v617f mutation in 50 - 60% of patients .
et transforms into myelofibrosis in a minority of cases , while evolution to acute leukemia is uncommon and increases with the use of certain therapies .
it is mainly characterized by iron deficiency anemia that is not responding to oral iron intake , but partially responding to parenteral iron therapy .
recently , it is shown that irida has stemmed from mutations in the gene tmprss6 , which encodes a transmembrane serine protease ( matriptase-2 ) expressed by the liver .
irida patients indicate inappropriately increased levels of hepcidin which is a hormone delivered by the liver inhibiting iron absorption from the intestine and iron release from macrophage stores .
according to recent studies , tmprss6 down - regulates hepcidin expression by cleaving hemojuvelin , a membrane - bound protein which triggers hepcidin signaling in hepatocytes .
rcc , as the most common solid lesion in the kidney , represents approximately 90% of all kidney malignancies .
many renal masses are asymptomatic and non - palpable till the late phases of the disease .
currently , more than half of the rccs are identified incidentally through imaging while investigating some non - specific symptom complexes .
the classic triad of flank pain , gross hematuria and palpable abdominal mass is uncommon ( 6 - 10% ) .
a few symptomatic patients present with symptoms due to metastatic disease , such as bone pain or persistent cough .
ten to forty percent of patients with rcc experience paraneoplastic phenomena over the span of the disease .
the symptom that may result in erythrocytosis is the most well - known paraneoplastic hematological event .
modest granulocytosis and thrombocytosis appears in approximately 20% of the patients and is seen as part of a systemic inflammatory reaction as it is typically interrelated with anemia , fever , weight loss , and increased serum levels of crp and interleukin-6 . here , we report a patient who presents with coexistence of rcc and thrombocytosis , which hasnt been caused by hormonal factors that are produced in tumor cells .
we could not find similar cases previously reported and this may be the first documentation of such a case in literature .
his blood counts were : white blood cells : 950010/l ; hemoglobin : 6.9 g / dl ; mean corpuscular volume 58 fl . ; platelets count : 1.423.000/mm ; c - reactive protein : 0.9 mg / l ; serum iron : 5 mol / l ( normal range : 15 - 30
mol / l ) ; total iron - binding capacity : 505 g / dl ( normal range : 110 - 350 g / dl ) ; transferrin saturation : 1% ( normal range : 20 - 45% ) ; ferritin : 3.1 ng / ml ( normal range : 20 - 330 ng / ml ) ; sedimentation rate 23 ( normal range : 0 - 20 ) .
the peripheral blood smear showed hypochromic and microcytic cells , anisopoikilocytosis and thrombocytosis while his liver and kidney tests were normal .
endoscopy and colonoscopy was applied to the patient in order to determine the etiology of iron deficiency anemia and no pathological signs were found . according to the etiology of thrombocytosis , jak2v617f mutation was found as positive and ph chromosome was negative in our patient .
bone marrow biopsy showed megakaryocytic hyperproliferation , in which megakaryocytes are increased in size with mature hyperlobulated with abundant cytoplasm and grouped .
standard cytogenetic studies showed a normal male karyotype ( 46 xy ) and fish ( fluorescence in situ hybridization ) analysis for deletion 5q [ del ( 5q ) ] was negative .
abdominal computed tomography was applied to the patient to investigate the presence of other malignancies and a 3532 mm .
the biopsy of this mass showed clear cell rcc ( crcc ) . during the examination of patient ,
the hemoglobin concentration , serum iron level and ferritin level did nt increase enough after four weeks .
this failure is usually due to poor compliance , misdiagnosis , continued blood loss , or malabsorption but none of these reasons were present in our patient .
starch block electrophoresis of the hemoglobin was applied to him to investigate the underlying thalassemia , and the hemoglobin electrophoretic pattern was found normal .
we suspected that the patient may have irida , because all of its typical features as microcytic anemia with low serum iron , no response to oral iron , and only a partial response to intravenous iron therapy were present in our patient ; however , we could nt identify mutations of the tmprss6 gene and high plasma levels of hepcidin due to technical difficulties .
as a result of all these investigations , the patient was found to have coexistence of rcc , et and irida .
radical nephrectomy operation was planned for the patient by urologists . before the operation cytoreductive therapy with hydroxyurea
was administered to the patient until his platelet count is reduced below 400 000/mm and parenteral ( intravenously ) iron treatment was applied to the patient until the hemoglobin level increased at least above 10 g / dl .
platelet count can increase in a variety of conditions , such as anemia , reduced iron stores , inflammation , the absence of a spleen , and primary proliferative disorders .
of all these conditions , malignant neoplasms are one of the most frequent causes of thrombocytosis .
here we report a patient who presented with coexistence of rcc and thrombocytosis , but it hasnt been caused by hormonal factors that are produced in tumor cells .
we aimed to show that coexistence of malignant neoplasms and thrombocytosis may not only arise from the production of humoral factors produced by the tumor , but concomitant mpn must be also considered .
 essential thrombocythemia ( et ) is a philadelphia chromosome ( ph)-negative myeloproliferative neoplasm . 
 it is characterized by thrombocytosis and megakaryocytic hyperplasia of the bone marrow with jak2v617f mutation . 
 iron - refractory iron deficiency anemia ( irida ) is an autosomal recessive disorder , which is mainly characterized by iron deficiency anemia not responding to oral iron intake , but partially responding to parenteral iron therapy . 
 recently , it has been shown that irida has stemmed from mutations in the gene tmprss6 , which encodes a transmembrane serine protease ( matriptase-2 ) expressed by the liver . 
 renal cell carcinoma ( rcc ) accounts for 2 - 3% of all cancers . as the most common solid lesion in the kidneys , it represents approximately 90% of all renal malignancies . 
 approximately 30% of patients with symptomatic rccs seem to display paraneoplastic syndromes . 
 the symptom that may result from erythrocytosis is the most well - known paraneoplastic hematological event . here , we report a patient who presents with coexistence of rcc and thrombocytosis , which hasnt been caused by hormonal factors that are produced in tumor cells . 
 this patient has been therefore diagnosed with et . 
 the patient who was expected to display rcc with polycythemia , conversely present with irida . 
Introduction
Case Report
Discussion and Conclusions