Polycythemia vera in a 2-year-old child with a JAK2 exon 12 deletion
Corresponding Author
Sarah Mc Dermott
Division of Hematology/Oncology/BMT, Children's Mercy Hospital, Kansas City, Missouri, USA
Correspondence
Sarah Mc Dermott, Division of Hematology/Oncology/BMT, Children's Mercy Hospital, 2401 Gillham Rd., Kansas City, MO 64108, USA.
Email: [email protected]
Search for more papers by this authorNicole Kucine
Division of Pediatric Hematology/Oncology, Weill Cornell Medicine, New York, New York, USA
Search for more papers by this authorMidhat S. Farooqi
Department of Pathology & Laboratory Medicine, Children's Mercy Hospital /University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
Search for more papers by this authorWeijie Li
Department of Pathology & Laboratory Medicine, Children's Mercy Hospital /University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
Search for more papers by this authorMichael Silvey
Division of Hematology/Oncology/BMT, Children's Mercy Hospital, Kansas City, Missouri, USA
Search for more papers by this authorCorresponding Author
Sarah Mc Dermott
Division of Hematology/Oncology/BMT, Children's Mercy Hospital, Kansas City, Missouri, USA
Correspondence
Sarah Mc Dermott, Division of Hematology/Oncology/BMT, Children's Mercy Hospital, 2401 Gillham Rd., Kansas City, MO 64108, USA.
Email: [email protected]
Search for more papers by this authorNicole Kucine
Division of Pediatric Hematology/Oncology, Weill Cornell Medicine, New York, New York, USA
Search for more papers by this authorMidhat S. Farooqi
Department of Pathology & Laboratory Medicine, Children's Mercy Hospital /University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
Search for more papers by this authorWeijie Li
Department of Pathology & Laboratory Medicine, Children's Mercy Hospital /University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA
Search for more papers by this authorMichael Silvey
Division of Hematology/Oncology/BMT, Children's Mercy Hospital, Kansas City, Missouri, USA
Search for more papers by this authorAbstract accepted: American Society of Pediatric Hematology/Oncology (ASPHO) 33rd Annual Meeting May 6th-9th, 2020; however due to COVID, this conference was cancelled. “Polycythemia vera diagnosis in a 2 year old child with a JAK2 exon 12 deletional mutation.”
Supporting Information
Filename | Description |
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pbc28994-sup-0001-FigureS1.pdf93.3 KB | Supplemental Figure S1. Sanger electropherogram showing the deletion in JAK2 exon 12, NM_004972.3:c.1627_1632del, in the patient (above) compared to control (below). |
pbc28994-sup-0002-TableS1.docx22 KB | Supplemental Table S1. Laboratory values over patient's 2-year treatment course. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
REFERENCES
- 1Barbui T, Thiele J, Gisslinger H, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood Cancer J. 2018; 8(2): 15.
- 2Zhao R, Xing S, Li Z, et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005; 280(24): 22788-22792.
- 3Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005; 365: 1054-1061.
- 4Pardanani A, Lasho TL, Finke C, et al. Prevalence and clfinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617-negative polycythemia vera. Leukemia. 2007; 21: 1960-1963.
- 5Vannucchi AM, Antonioli E, Guglielmelli P, et al. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia. 2008; 22: 1299-1307.
- 6Osgood EE. Polycythemia vera: age relationships and survival. Blood. 1965; 26: 243-256.
- 7Ianotto JC, Curto-Carcia N, Lauermanova M, et al. Characteristics and outcomes of patients with essential thrombocythemia or polycythemia vera diagnosed before 20 years of age: a systemic review. Haematologica. 2019; 104(8): 1580-1588.
- 8Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk-stratification, and management. Am J Hematol. 2017; 92(1): 94-108.
- 9Hong J, Lee JH, Byun JM, et al. Risk of disease transformation and second primary solid tumors in patients with myeloproliferative neoplasms. Blood. 2019; 3(22): 3700-3708.
- 10Cario H, McMullin MF, Pahl HL. Clinical and hematological presentation of children and adolescents with polycythemia vera. Ann Hematol. 2009; 88(8): 713-719.
- 11Cario H, Schwarz K, Herter JM, et al. Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera. Br J Haematol. 2008; 142(4): 622-626.
- 12Ismael O, Shimada A, Hama A, et al. Mutations profile of polycythemia vera and essential thrombocythemia among Japanese children. Pediatr Blood Cancer. 2012; 59(3): 530-535.
- 13Teofili L, Giona F, Martini M, et al. Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol. 2007; 25(9): 1048-1053.
- 14Teofili L, Foa R, Giona F, et al. Childhood polycythemia vera and essential thrombocythemia: does their pathogenesis overlap with that of adult patients? Haematologica. 2008; 93(2): 169-172.
- 15Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood. 1995; 86: 15-22.
- 16Rumi E, Harutyunyan AS, Pietra D, et al. LNK mutations in familial myeloproliferative neoplasms. Blood. 2016; 128: 144-145.
- 17Passamonti F, Elena C, Schnittger S, et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood. 2011; 117(10): 2813-2816.
- 18Najean Y, Mugnier P, Dresch C, et al. Polycythaemia vera in young people: an analysis of 58 cases diagnosed before 40 years. Br J Haematol. 1987; 67(3): 285-291.
- 19Perea G, Remacha A, Besses C, et al. Is polycythemia vera a serious disease in young adults?. Haematologica. 2001; 86: 543-544.
- 20Passamonti F, Rumi E, Pungolino E, et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med. 2004; 117(10): 755-761.
- 21Brunner AM, Hobbs G, Jalbut MM, et al. A population-based analysis of second malignancies among patients with myeloproliferative neoplasms in the SEER database. Leuk Lymphoma. 2016; 57(5): 1197-1200.
- 22Coskun ME, Height S, Dhawan A, et al. Ruxolitinib treatment in an infant with JAK2+ polycythemia vera associated Budd-Chiari syndrome. BMJ. 2017: 2017.doi: 10.1136/bcr-2017-220377
- 23Silver RT. Recombinant interferon-alpha for treatment of polycythaemia vera. Lancet. 1988; 2(8607): 403.
- 24Falchi L, Newberry KJ, Verstovsek S. New therapeutic approaches in polycythemia vera. Clin Lymphoma Myeloma Leuk. 2015; 15: S27-S33.
- 25Kiladjian JJ, Cassinat B, Chevret S, et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood. 2008; 112(8): 3065-3072.
- 26Olpinski M, Jakiela T, Korczowski R. Interferon alpha in the treatment of polycythemia vera in a 13-year-old girl. Pediatr Pol. 1996; 71: 705-707.
- 27Kucine N, Bergmann S, Krichevsky S, et al. Use of pegylated interferon in young patients with polycythemia vera and essential thrombocythemia. Pediatr Blood Cancer. 2020:e28888.