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01-04-2018 | Letter to the Editor

Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation

Authors: Koichiro Maie, Yasuhisa Yokoyama, Yoko Yano, Takayasu Kato, Yasuhito Nannya, Seishi Ogawa, Masayuki Noguchi, Mamiko Sakata-Yanagimoto, Shigeru Chiba

Published in: Annals of Hematology | Issue 4/2018

Excerpt

Dear Editor, …

Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC (1998) An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet 18(1):49–52. https://doi.org/10.1038/ng0198-49 CrossRefPubMed

Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, Tsuboi K, Nitta M, Miyazaki H, Iida S, Ueda R (2004) Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood 103(11):4198–4200. https://doi.org/10.1182/blood-2003-10-3471 CrossRefPubMed

Etheridge SL, Cosgrove ME, Sangkhae V, Corbo LM, Roh ME, Seeliger MA, Chan EL, Hitchcock IS (2014) A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood 123(7):1059–1068. https://doi.org/10.1182/blood-2012-12-473777 CrossRefPubMed

Rumi E, Harutyunyan AS, Casetti I, Pietra D, Nivarthi H, Moriggl R, Cleary C, Bagienski K, Astori C, Bellini M, Berg T, Passamonti F, Kralovics R, Cazzola M (2014) A novel germline JAK2 mutation in familial myeloproliferative neoplasms. Am J Hematol 89(1):117–118. https://doi.org/10.1002/ajh.23614 CrossRefPubMed

Mead AJ, Rugless MJ, Jacobsen SE, Schuh A (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med 366(10):967–969. https://doi.org/10.1056/NEJMc1200349 CrossRefPubMed

Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, Leroy E, Harutyunyan AS, Abgrall JF, Favier R, Toussaint A, Solary E, Kralovics R, Constantinescu SN, Najman A, Vainchenker W, Plo I, Bellanne-Chantelot C (2014) Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood 123(9):1372–1383. https://doi.org/10.1182/blood-2013-05-504555 CrossRefPubMed

Yoshizato T, Nannya Y, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Suzuki H, Nagata Y, Sato Y, Kakiuchi N, Matsuo K, Onizuka M, Kataoka K, Chiba K, Tanaka H, Ueno H, Nakagawa MM, Przychodzen B, Haferlach C, Kern W, Aoki K, Itonaga H, Kanda Y, Sekeres MA, Maciejewski JP, Haferlach T, Miyazaki Y, Horibe K, Sanada M, Miyano S, Makishima H, Ogawa S (2017) Genetic abnormalities in myelodysplasia and secondary acute myeloid leukemia: impact on outcome of stem cell transplantation. Blood 129(17):2347–2358. https://doi.org/10.1182/blood-2016-12-754796 CrossRefPubMedPubMedCentral

Title: Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation
Authors: Koichiro Maie
Yasuhisa Yokoyama
Yoko Yano
Takayasu Kato
Yasuhito Nannya
Seishi Ogawa
Masayuki Noguchi
Mamiko Sakata-Yanagimoto
Shigeru Chiba
Publication date: 01-04-2018
Publisher: Springer Berlin Heidelberg
Published in: Annals of Hematology / Issue 4/2018
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-017-3209-1

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