Laboratory Investigation of Myeloproliferative Neoplasms (MPNs)

Busque, Lambert; Porwit, Anna; Day, Radmila; Olney, Harold J.; Leber, Brian; Éthier, Vincent; Sirhan, Shireen; Foltz, Linda; Prchal, Jaroslav F.; Kamel‐Reid, Suzanne; Karsan, Aly; Gupta, Vikas

doi:10.1093/ajcp/aqw131

Cited by 30 publications

(30 citation statements)

References 85 publications

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“…The new WHO Hb criteria were not designed for general screening and are clearly too low for that purpose. [6][7][8] The red blood cell count (RBC) may be underutilized. 9 In addition, iron deficiency may raise suspicion for PV, 10 and the role of EPO warrants further investigation.…”

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confidence: 99%

Beyond Hemoglobin: When and How to Work Up Possible Polycythemia Vera

Shaw

Berg

2019

Clin Med Res

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Background: World Health Organization (WHO) 2017 diagnostic criteria for hemoglobin levels in polycythemia vera (PV) were lowered from 185 g/L to 165 g/L for men and from 165 g/L to 160 g/L for women, but these cutoffs were not designed for screening. Objectives: The primary aim of this study was to assess the value of laboratory and clinical parameters in deciding whether to further pursue a diagnosis of PV. A secondary aim was to explore the diagnostic utility of bone marrow morphology. Methods: We evaluated clinical and laboratory parameters that may be useful when considering further diagnostic work-up, emphasizing PV vs. secondary erythrocytosis (SE). We classified 200 patients with JAK2 V617F testing using WHO criteria. Results: Patients with myeloproliferative neoplasms (MPN) were rarely under age 40 and uncommonly obese (BMI ≥ 30 kg/m 2). Current smoking history favored SE, and these patients rarely had a platelet count ≥ 450 x 10 3 /uL. Laboratory parameters suggesting greater PV likelihood were: RBC > 6.8 x 10 6 for men or > 5.9 x 10 6 for women; low erythropoietin; and low MCV or low ferritin. Bone marrow morphology (available in 111 cases) was generally more cellular in PV vs. SE and assessed disease progression. Conclusions: Readily accessible clinical and laboratory data can assist in considering a PV workup, and a possible diagnostic algorithm is presented. These preliminary findings warrant larger studies to develop a more formal PV-risk scoring system with optimal cutoffs and weighting.

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confidence: 99%

Beyond Hemoglobin: When and How to Work Up Possible Polycythemia Vera

Shaw

Berg

2019

Clin Med Res

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“…The increasing use of molecular and cytogenetic tools in hematopoietic disorders has led to a significant improvement in diagnostic and prognostic accuracy in MPN. Although there is wide variability and discretion in the depth and breadth of a molecular diagnostic workup, this discussion focuses on the minimal testing required for MPN diagnosis and classification …”

Section: An Algorithmic Approach To Mpn Diagnosismentioning

confidence: 99%

Myeloproliferative neoplasms: Diagnostic workup of the cythemic patient

Wong

Pozdnyakova

2019

Int J Lab Hematology

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Elevated peripheral blood (PB) cell counts, such as leukocytosis, thrombocytosis, and polycythemia, are often the presenting symptom in patients with myeloproliferative neoplasms (MPN). Because cythemias are nonspecific and may reflect either a reactive or neoplastic process, diagnostic workup of these patients is complicated and requires integration of numerous diagnostic modalities. Careful morphologic evaluation of the PB smear may provide insights into the underlying cause of the abnormal counts (such as the presence of teardrop erythrocytes in myelofibrosis or granulocytic dysplasia with left shift in atypical chronic myeloid leukemia). However, these morphologic findings need to be interpreted in concert with clinical findings and other laboratory results. In recent years, there has been a wealth of new genetic data in the field of MPN and many recurrent mutations have been identified, especially in cases lacking Philadelphia chromosome. Many of these genes impact the diagnosis and/or prognosis. Although certain mutations are preferentially enriched in specific MPN types, none of these mutations are disease defining; therefore, a thorough workup should always include a bone marrow biopsy for morphologic evaluation and diagnosis. This review will describe a comprehensive approach to the diagnosis of various MPN, with an emphasis on the diagnostic and prognostic implications of recurrent mutations in MPN.

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“…Ethier et al, by strict application of the low Hb thresholds as reported by the WHO criteria in the Canadian population, found in about 4.1% of all complete blood counts (CBC) from unselected male subjects and in 0.35% of female subjects an Hb value at or above that threshold. This would have increased the incidence “of potential PV patients by up to 12‐fold in males and 3‐fold in females from current standards.” In this context, the authors concluded that “the use of the lowered Hb levels as a screening method has the potential to lead to unnecessary investigations”; therefore, they expressed concern regarding “financial and psychological burden.” Moreover, the authors tested whether other CBC parameters may impact on the incidence of suspected PV cases following the revised WHO criteria . According to an exploratory analysis of all CBC results from unselected adults, neutrophilia and thrombocytosis were included but confirmed the previous findings, ie up to 60 times more males and 3 times more women would require an investigation .…”

Section: Main Characteristics Of 375 Pv Patients According To 2016 Anmentioning

confidence: 99%