Polycythemia with Renal Cell Carcinoma and Normal Erythropoietin Level

Kopel, Jonathan; Warriach, Irfan; Swarup, Sriman

doi:10.1155/2019/3792514

Cited by 3 publications

(4 citation statements)

References 35 publications

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“…Renal cysts are also a known cause of EPO elevation [ 30 , 31 ]. Two patients with renal cell carcinoma and erythrocytosis had normal EPO levels, a surprising but not an isolated finding [ 32 ]. A patient diagnosed with ECYT4 also had elevated EPO, although that is not necessarily the case in ECYT 4 [ 3 , 33 ], which can present with normal, elevated, or decreased EPO [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

et al. 2021

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Erythrocytosis has a diverse background. While polycythaemia vera has well defined criteria, the diagnostic approach and management of other types of erythrocytosis are more challenging. The aim of study was to retrospectively analyse the aetiology and management of non-clonal erythrocytosis patients referred to a haematology outpatient clinic in an 8-year period using a 3-step algorithm. The first step was inclusion of patients with Hb > 185 g/L and/or Hct > 0.52 in men and Hb > 165 g/L and/or Hct > 0.48 in women on two visits ≥ two months apart, thus confirming true erythrocytosis. Secondly, polycythaemia vera was excluded and secondary causes of erythrocytosis (SE) identified. Thirdly, idiopathic erythrocytosis patients (IE) were referred to next-generation sequencing for possible genetic background evaluation. Of the 116 patients, 75 (65%) are men and 41 (35%) women, with non-clonal erythrocytosis 34/116 (29%) had SE, 15/116 (13%) IE and 67/116 (58%) stayed incompletely characterized (ICE). Patients with SE were significantly older and had significantly higher Hb and Hct compared to patients with IE. Most frequently, SE was attributed to obstructive sleep apnoea and smoking. Phlebotomies were performed in 56, 53 and 40% of patients in the SE, IE, and ICE group, respectively. Approx. 70% of patients in each group received aspirin. Thrombotic events were registered in 12, 20 and 15% of SE, IE and ICE patients, respectively. Congenital erythrocytosis type 4 (ECYT4) was diagnosed in one patient. The study demonstrates real-life management of non-clonal erythrocytosis which could be optimized using a 3-step diagnostic algorithm.

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Section: Discussionmentioning

confidence: 99%

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

et al. 2021

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“…The pathogenesis of polycythemia in RCC is related to Von Hippel gene mutation and increases HIF production which promotes EPO gene transcription [7]. In a patient with clear cell RCC with polycythemia and an increase in serum EPO level, the hemoglobin hematocrit are usually high, after removal of the tumor, these levels returned to normal.…”

Section: Discussionmentioning

confidence: 99%

“…The production of EPO in normal kidneys occurs in the peritubular cells and it is controlled by oxygen sensor in epithelial cells in the proximal tubules [6]. The pathogenesis of polycythemia in RCC is related to Von Hippel gene mutation and increases hypoxia-inducible factor (HIF) production which promotes erythropoietin gene transcription [7]. The presented case had left renal mass associated with elevated hemoglobin and hematocrit level which could be helpful as a tumor marker.…”

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confidence: 89%

Renal Cell Carcinoma with Polycythemia

.¹,

.²,

.³

2021

amj

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Renal cell carcinoma (RCC) is the most common renal tumor and participates in about 80-85% of primary renal tumors. It is usually diagnosed incidentally during the evaluation for other medical problems; or it may be presented with gross hematuria, loin mass or pain. However, it infrequently presents as a paraneoplastic syndrome (PNS) which includes, hypertension, hypercalcemia, and abnormal liver function. A 75-year-old gentleman presented with an incidental left renal mass following the evaluation of the left loin pain with headache and dizziness. The patient had a history of hypertension for 10 years on control medical therapy and no history of smoking or chronic obstructive airway disease. The complete blood picture was showed a marked elevation in hemoglobin 21.7 g/dl and hematocrit level 65%. Ultrasound was showed left renal mass and a computerized tomography scan was showed the enhancement in the left renal mass picture suggestive of RCC. After phlebotomy of 2 units of blood, the patient underwent radical nephrectomy, then the histopathology was reported clear cell type RCC Fuhrman nuclear grading system II. At 2 months following surgery, the patient's hemoglobin level and hematocrit were returned to normal. The pathogenesis of PNS may be due to an abnormal immune system response to a cancerous cell. There is a wide range of the PNS concerning RCC including non-specific constitutional features for example; cachexia, weight loss, and fever, and specific metabolic and biochemical disorders (i.e. hypercalcemia, non-metastatic hepatic dysfunction, amyloidosis, etc.). PNS is often unrecognized but polycythemia should be considered important biomarkers in RCC, therefore, it can be used as a tumor marker in the diagnosis and follow-up of the patient after surgery.

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“…Androgen therapy was considered as a cause only if a patient was being treated with androgens when polycythaemia was diagnosed. As far as neoplasia related to polycythaemia is concerned, we only included cancers which have been published to be related with polycythaemia, and therefore the following cancers were included in this group: renal [ 6 , 7 , 8 ]; adrenal [ 9 , 10 ]; genitourinary [ 11 , 12 ]; respiratory [ 13 ]; cerebral tumours [ 14 ]; hepatocellular cancer [ 15 ]. Patients with any other type of cancer were included in the idiopathic group.…”

Section: Methodsmentioning

confidence: 99%

JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital

Jalowiec

Vrotniakaite-Bajerciene

Jalowiec³

et al. 2022

JCM

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(1) Background: Polycythaemia is defined by an increase in haemoglobin (Hb) concentration, haematocrit (Hct) or red blood cell (RBC) count above the reference range adjusted to age, sex and living altitude. JAK2 unmutated polycythaemia is frequent but under-investigated in original publications. In this retrospective cohort study, we investigated the clinical and laboratory data, underlying causes, management and outcomes of JAK2 unmutated polycythaemia patients. (2) Methods: The hospital database was searched to identify JAK2 unmutated patients fulfilling WHO 2016 Hb/Hct criteria for PV (Hb >16.5 g/dL in men and >16 g/dL in women, or Hct > 49% in men and >48% in women, or RBC mass > 25% above mean normal predicted value) between 2008 and 2019. Clinical and laboratory data were collected and analysed. (3) Results: From 727,731 screened patients, 294 (0.04%) were included, the median follow-up time was 47 months. Epo and P50 showed no clear pattern in differentiating causes of polycythaemia. In 30%, the cause remained idiopathic, despite extensive work-up. Sleep apnoea was the primary cause, also in patients under 30. Around 20% had received treatment at any time, half of whom had ongoing treatment at the end of follow-up. During follow-up, 17.2% developed a thromboembolic event, of which 8.5% were venous and 8.8% arterial. The mortality was around 3%. (4) Conclusions: Testing for Epo and P50 did not significantly facilitate identification of underlying causes. The frequency of sleep apnoea stresses the need to investigate this condition. Idiopathic forms are common. A diagnostic flowchart based on our data is proposed here. NGS testing should be considered in young patients with persisting polycythaemia, irrespective of Epo and P50 levels.

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Polycythemia with Renal Cell Carcinoma and Normal Erythropoietin Level

Cited by 3 publications

References 35 publications

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience

Renal Cell Carcinoma with Polycythemia

JAK2 Unmutated Polycythaemia—Real-World Data of 10 Years from a Tertiary Reference Hospital

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