Abstract
The coexistence of both myeloproliferative and lymphoproliferative neoplasms in the same patient is an uncommon finding. We report two patients who presented such an association. The first patient was initially diagnosed with essential thrombocythemia, developing a clinical and haematological picture consistent with chronic lymphocytic leukaemia several years afterwards. The second patient was diagnosed concomitantly with polycythaemia vera and chronic lymphocytic leukaemia. Both patients were positive for the JAK2 V617F mutation. In the first patient the chronic lymphocytic leukaemia was asymptomatic, stage A, and did not require any additional treatment, while the second patient presented with generalized large lymphadenopathy (stage B) and chronic lymphocytic leukaemia-related symptoms, requiring chronic lymphocytic leukaemia-directed treatment. It is unclear whether there is a pathogenetic link between the myeloproliferative and lymphoproliferative diseases encountered in these patients, both being probably the result of random mutations occurring in distinct initiating cells. However, given the higher risk of lymphoproliferative neoplasms development in myeloproliferative neoplasms patients reported in larger studies, the genomic instability characteristic to myeloproliferative neoplasms may play a role in subsequent lymphoproliferative neoplasms occurrence.
References
Jones AV, Kreil S, Zoi K et al (2005) Widespread occurrence of the JAK2 V6l7F mutation in chronic myeloproliferative disorders. Blood 106:2162–2168
Trifa AP, Cucuianu A, Petrov L et al (2010) The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms. Ann Hematol 89(10):979–983
Shanafelt TD, Byrd JC, Call TG, Zent CS, Kay NE (2006) Narrative review: initial management of newly diagnosed, early-stage chronic lymphocytic leukemia. Ann Intern Med 145:435–447
Trifa AP, Cucuianu A, Popp RA (2010) Development of a reliable PCR-RFLP assay for investigation of the JAK2 rs10974944 SNP, which might predispose to the acquisition of somatic mutation JAK2 V617F. Acta Haematol 123(2):84–87
Binet JL, Auquier A, Dighiero G et al (1981) A new prognostic classification of chronic lymphocytic leukemia derived from a multivariate survival analysis. Cancer 48(1):198–206
Gabrail NY, Martin TW (1998) Coexistence of essential thrombocythemia and chronic lymphocytic leukemia. Acta Haematol 85:31–33
Marcos Sanchez F, Juarez Ucerlay F, Lobato de Blas C, Llanos del Ama ML, Duran Perez-Navarro A (1995) Simultaneous presentation of chronic lymphocytic leukosis and essential thrombocythemia. Ann Med Intern 12(11):566
Bizzaro N (1998) Chronic lymphocytic leukaemia in a patient with essential thrombocythemia. Clin Lab Haematol 20:377–379
Robak T, Urbańska-Ryś H, Góra-Tybor J et al (2003) Coexistence of chronic lymphocytie leukemia and essential thrombocythemia. Leuk Lymphoma 44:1425–1431
Henry L, Carillo S, Jourdan E, Arnaud A, Brun S, Lavabre-Bertrand T (2007) Association of essential thrombocythemia and chronic lymphocytic leukemia: absence of the V617F JAK2 mutation in the lymphoid compartment. Am J Hematol 82:500–501
Tabaczewski P, Nadesan S, Lim SH (2009) Zap-70 positive chronic lymphocytic leukemia co-existing with Jak 2 V671F positive essential thrombocythemia: a common defective stem cell? Leuk Res 33(6):854–855
Kodali S, Chen C, Rathnasabapathy C, Wang JC (2009) JAK2 mutation in a patient with CLL with coexistent myeloproliferative neoplasm (MPN). Leuk Res 33(12):e236–e239
Hussein K, Brakensiek K, Ballmaier M et al (2006) B-CLL developing in a patient with PV is not affected by V617F mutation of the Janus kinase 2. Eur J Haematol 77(6):539–541
Vannucchi AM, Masala G, Antonioli E et al (2009) Increased risk of lymphoid neoplasms in patients with Philadelphia chromosome-negative myeloproliferative neoplasms. Cancer Epidemiol Biomarkers Prev 18(7):2068–2073
Rumi E, Passamonti F, Elena C et al (2011) Increased risk of lymphoid neoplasm in patients with myeloproliferative neoplasm: a study of 1,915 patients. Haematologica 96(3):454–458
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This study was partially supported by the project: POSDRU 107/1.5/S/78702.
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Trifa, A.P., Cucuianu, A., Popp, R.A. et al. Concomitant Myeloproliferative and Lymphoid Neoplasms in Two Patients Positive for JAK2 V617F Mutation. Case Report and Literature Review. Indian J Hematol Blood Transfus 30 (Suppl 1), 120–123 (2014). https://doi.org/10.1007/s12288-013-0281-0
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DOI: https://doi.org/10.1007/s12288-013-0281-0