Abstract
A 59-year-old female was referred to the hematology department for evaluation of persistent erythrocytosis. Two years prior to this visit, she was seen by her primary care physician with complaints of intermittent mild night sweats, frequent vasomotor symptoms such as hot flashes, and early satiety with abdominal fullness and pain if she laid on her right side. Laboratory evaluation at that time revealed a hematocrit of 57.6% (reference interval 38.5–49%), hemoglobin of 18.3 g/dL (reference interval 13.2–16.9 g/dL), and red blood cell count of 7.0 ?× ?106/?L (reference interval 4.5–5.1 ?× ?106/?L). She was treated with phlebotomy alone for approximately two years. However, she continued to have persistent erythrocytosis and during her last checkup was found to have an elevated platelet count of 915,000/?L (reference interval 150,000–450,000/?L).
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Levine RL, Gilliland DG (2008) Myeloproliferative disorders. Blood 112:2190–2198
Spivak JL (2010) Narrative review: thrombosis, polycythemia vera, and JAK2 mutations: the phenotypic mimicry of chronic myeloproliferation. Ann Intern Med 152:300–306
James C, Ugo V, Le Couedic JP et al (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434:1144–1148
Baxter EJ, Scott LM, Campbell PJ et al (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365:1054–1061
Kralovics R, Passamonti F, Buser AS et al (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352:1779–1790
Levine RL, Wadleigh M, Cools J et al (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7:387–397
Thiele J, Kvasnicka HM, Orazi A et al (2008) Polycythaemia vera. In: Swerdlow SH et al (eds) WHO classification of tumors of haematopoietic and lymphoid tissues, 4th edn. International Agency for Research on Cancer, Lyon
Scott LM, Tong W, Levine RL et al (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356:459–468
Pietra D, Li S, Brisci A et al (2008) Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 111:1686–1689
Williams DM, Kim AH, Rogers O et al (2007) Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol 35:1641–1646
Verstovsek S (2009) Therapeutic potential of JAK2 inhibitors. Hematology Am Soc Hematol Educ Program 2009:636–642
Steensma DP (2006) JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 8:397–411
Levine RL, Pardanani A, Tefferi A et al (2007) Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer 7:673–683
Warshawsky I, Mularo F, Hren C et al (2010) Failure of the Ipsogen MutaScreen kit to detect the JAK2 617V ?> ?F mutation in samples with additional rare exon 14 mutations: implications for clinical testing and report of a novel 618C ?> ?F mutation in addition to 617V ?> ?F. Blood 115:3175–3176
Kiladjian JJ, Cassinatt B, Turlure P et al (2006) High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha-2a. Blood 108:2037–2040
Vannucchi AM, Antonioli E, Guglielmelli P et al (2008) Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia 22:1299–1307
Passamonti F, Rumi E (2009) Clinical relevance of JAK2 (V617F) mutant allele burden. Haematologica 94:7–10
Marshall JJ, Halford SE (2010) The type IIb restriction endonucleases. Biochem Soc Trans 38:410–416
Wernig G, Kharas MG, Okabe R et al (2008) Efficacy of TG101348, a selective JAK2 inhibitor, in treatment of a murine model of JAK2V617F-induced polycythemia vera. Cancer Cell 13:311–320
Parganas E, Wang D, Stravopodis D et al (1998) Jak2 is essential for signaling through a variety of cytokine receptors. Cell 93:385–395
Albiero E, Madeo D, Ruggeri M et al (2008) Loss of the JAK2 intramolecular auto-inhibition mechanism is predicted by structural modeling of a novel exon 12 insertion mutation in a case of idiopathic erythrocytosis. Br J Haematol 142:986–990
Pikman Y, Lee BH, Mercher T et al (2006) MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 3:1140–1151
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Thorson, J.A., Wang, HY. (2011). Myeloproliferative Neoplasms. In: Schrijver, I. (eds) Diagnostic Molecular Pathology in Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-19677-5_16
Download citation
DOI: https://doi.org/10.1007/978-3-642-19677-5_16
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-19676-8
Online ISBN: 978-3-642-19677-5
eBook Packages: MedicineMedicine (R0)