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Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis

Leukemia volume 20, pages 350–353 (2006)Cite this article

We then investigated in 88 patients with a newly diagnosed erythrocytosis if the detection of the mutation correlated with usual criteria of PV, as WHO and PVSG classifications, endogenous erythroid colonies (EEC) formation, and a low serum erythropoietin (Epo) level, thus facilitating the diagnosis of PV (Table 1). We retained 51% for the upper end of the normal range for hematocrit value.7 Clinical data were incomplete for seven patients, explaining why the diagnosis of PV could not be affirmed either with the WHO or with the PVSG criteria. Owing to the differences between the A1 criteria of both classifications, six patients who did not have any red cell mass measurement could be classified in the WHO and not in the PVSG classification. One patient had both an hypoxia and EEC formation, therefore making the diagnosis difficult. A cytogenetic analysis was performed in 35 patients; among 32 PV patients (according to the WHO criteria), seven had cytogenetic abnormalities: five with trisomy 9, one with 7q-, and one with additional material on chromosome 18.

Table 1 Characteristics of patients
Full size table

JAK2 V617F was present in 43/45 (96%) patients diagnosed as PV according to the PVSG criteria and in 57/61 (93%) patients diagnosed with the WHO criteria (Table 1). Nevertheless, 8/29 patients classified as non-PV according to the PVSG classification presented the mutation, whereas none of the 19 non-PV patients of the WHO; these eight patients were considered idiopathic erythrocytosis with the PVSG and PV with the WHO criteria. None of the patients diagnosed with secondary erythrocytosis (SE) nor the one with a normal red cell mass had the mutation. The presence or absence of JAK2 V617F thus correlates with the positive diagnosis of PV in 76/80 patients (95%, R=0.879, P<0.0001) if the WHO criteria are used and in 64/74 patients (86.5%, R=0.717, P<0.0001) with the PVSG criteria. Besides, as none of the patients diagnosed as non-PV with the WHO criteria had the mutation, the detection of JAK2 V617F has a positive predictive value of 100% in the context of absolute erythrocytosis.

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Acknowledgements

This work was supported by Grants from la Fondation Pour La Recherche Médicale and La Ligue Nationale Contre le Cancer (équipe labellisée 2004). WV is supported by an interface contract between INSERM and IGR. We are grateful to Drs Aitkaci, Alterescu, Arnaud, Belluci, Benabed, Bengaoua, Brière, Carde, Castaigne, Cheze, Damaj, Darnige, De Revel, Dervite, Desablens, Dupriez, Fouillard, Garidi, Ghomari, Hermine, Kiladjian, Johnson, Letellier, Lemonnier, Livartowski, Macro, Marfaing, Morel, Peltier, Roussy, Seraatrice, Servais, Taksin, Tribout, Varet, Vilque, Wechsler, and Zittoun for their help in collecting samples and clinical data. We are also grateful to the patients for their agreement to participate to this study.

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Author notes

  1. V Ugo

    Present address: Laboratoire d'Hématologie, Hôpital Morvan, CHU Brest, 5 avenue Foch, 29 609, Brest, Cedex, France

  2. V Ugo and N Casadevall: These two authors contributed equally to this work.

Authors and Affiliations

  1. Laboratoire d'Hématologie, Hôtel Dieu, 1 place du Parvis de NotreDame, Paris, 75004, France

    C James, F Delhommeau, C Marzac, I Teyssandier, V Ugo & N Casadevall

  2. INSERM U362, Institut Gustave Roussy, Paris XI University, PR1, Villejuif, France

    C James, F Delhommeau, J-P Le Couédic, S Giraudier, L Roy, W Vainchenker & N Casadevall

  3. Laboratoire d'Hématologie, Henri Mondor, Créteil, France

    S Giraudier, S Maury & M Tulliez

  4. Service d'onco-hématologie, CHU Poitiers, Poitiers, France

    L Roy

  5. Translational laboratory, Institut Gustave Roussy, Villejuif, France

    P Saulnier & L Lacroix

  6. Laboratoire d'Hématologie, CHU Brest, Brest, France

    V Ugo

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James, C., Delhommeau, F., Marzac, C. et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia 20, 350–353 (2006). https://doi.org/10.1038/sj.leu.2404069

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