Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation
- 200 Downloads
Familial thrombocytosis (FT) is a rare, inherited form of myeloproliferative neoplasms (MPN). Germline mutations have been identified mostly in THPO  and MPL  genes, while only six JAK2 germline mutations in five families have been reported [3, 4, 5, 6]. In a previous report, all the members of a family affected with the JAK2 R867Q mutation showed thrombocytosis alone with normal hemoglobin levels . Here we report a Japanese FT pedigree with the germline JAK2 R867Q mutation, in whom progression to polycythemia vera (PV) was observed.
We thank Thomas Mayers, assistant professor of English for Medical Purposes, Medical English Communications Center, University of Tsukuba, for his editorial assistance.
KM and YY wrote the manuscript. KM performed the experiments using patient samples. YN and SO performed panel sequencing for 67 genes. YY and MN performed histopathological analysis. YY, TK, MSY, and SC supervised this research. All authors approved the final manuscript.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
This study was approved by ethics committee in University of Tsukuba Hospital, and informed consent was obtained from the patient and her family members before the analysis.
- 2.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 CrossRefPubMedGoogle Scholar
- 4.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 CrossRefPubMedGoogle Scholar
- 6.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 CrossRefPubMedGoogle Scholar
- 7.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 CrossRefPubMedPubMedCentralGoogle Scholar