Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans

References

• Perlman RL. Mouse models of human disease: an evolutionary perspective. Evol Med Public Health. 2016;2016(1):170–4. doi:10.1093/emph/eow014.
   PubMedGoogle Scholar
• Kondo T, Okabe M, Sanada M, Kurosawa M, Suzuki S, Kobayashi M, Hosokawa M, Asaka M. Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene. Blood. 1998;92(4):1091–6. doi:10.1182/blood.V92.4.1091.
   PubMed Web of Science ®Google Scholar
• Kikuchi M, Tayama T, Hayakawa H, Takahashi I, Hoshino H, Ohsaka A. Familial thrombocytosis. Br J Haematol. 1995;89(4):900–2. doi:10.1111/j.1365-2141.1995.tb08432.x.
   PubMed Web of Science ®Google Scholar
• Prouzet-Mauleon V, Montibus B, Chauveau A, Hautin M, Migeon M, Ka C, Laharanne E, Bidet A, Corcos L, Lippert E, et al. A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis. Br J Haematol. 2020;190(2):e104–e7. doi:10.1111/bjh.16742.
   PubMed Web of Science ®Google Scholar
• Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998;18(1):49–52. doi:10.1038/ng0198-49.
   PubMed Web of Science ®Google Scholar
• Zhang B, Ng D, Jones C, Oh ST, Nolan GP, Salehi S, Wong W, Zehnder JL, Gotlib J. A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia. Blood. 2011;118(26):6988–90. doi:10.1182/blood-2011-10-386177.
   PubMed Web of Science ®Google Scholar
• Liu K, Kralovics R, Rudzki Z, Grabowska B, Buser AS, Olcaydu D, Gisslinger H, Tiedt R, Frank P, Okon K, et al. A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family. Haematologica. 2008;93(5):706–14. doi:10.3324/haematol.11801.
   PubMed Web of Science ®Google Scholar
• Jorgensen MJ, Raskind WH, Wolff JF, Bachrach HR, Kaushansky K. Familial thrombocytosis associated with overproduction of thrombopoietin due to a novel splice donor site mutation. Blood (ASH Meeting Abstracts). 1998;92:Abstract #834.
   Google Scholar
• Harrison CN, Gale RE, Wiestner AC, Skoda RC, Linch DC. The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia. Br J Haematol. 1998;102(5):1341–3. doi:10.1111/j.1365-2141.1998.00921.x.
   PubMed Web of Science ®Google Scholar
• Ding J, Komatsu H, Iida S, Yano H, Kusumoto S, Inagaki A, Mori F, Ri M, Ito A, Wakita A, et al. The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. Blood. 2009;114(15):3325–8. doi:10.1182/blood-2008-04-149047.
   PubMed Web of Science ®Google Scholar
• Liu K, Martini M, Rocca B, Amos CI, Teofili L, Giona F, Ding J, Komatsu H, Larocca LM, Skoda RC, et al. Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. Haematologica. 2009;94(10):1368–74. doi:10.3324/haematol.2009.005918.
   PubMed Web of Science ®Google Scholar
• Teofili L, Giona F, Torti L, Cenci T, Ricerca BM, Rumi C, Nunes V, Foa R, Leone G, Martini M, et al. Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis. Haematologica. 2010;95(1):65–70. doi:10.3324/haematol.2009.007542.
   PubMed Web of Science ®Google Scholar
• Moliterno AR, Williams DM, Gutierrez-Alamillo LI, Salvatori R, Ingersoll RG, Spivak JL. Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. Proc Natl Acad Sci USA. 2004;101(31):11444–7. doi:10.1073/pnas.0404241101.
   PubMed Web of Science ®Google Scholar
• El-Harith el HA, Roesl C, Ballmaier M, Germeshausen M, Frye‐Boukhriss H, Von Neuhoff N, Becker C, Nürnberg G, Nürnberg P, Ahmed MAM, et al. Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol. 2009;144(2):185–94. doi:10.1111/j.1365-2141.2008.07430.x.
   PubMed Web of Science ®Google Scholar
• Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, Tsuboi K, Nitta M, Miyazaki H, Iida S, et al. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. Blood. 2004;103(11):4198–200. doi:10.1182/blood-2003-10-3471.
   PubMed Web of Science ®Google Scholar
• Han EY, Catherwood M, McMullin MF. Hereditary thrombocytosis: the genetic landscape. Br J Haematol. 2021;194(6):1098–105. doi:10.1111/bjh.17741.
   PubMed Web of Science ®Google Scholar
• Kaushansky K, Wood AJJ. Thrombopoietin. N Engl J Med. 1998;339(11):746–54. doi:10.1056/NEJM199809103391107.
   PubMed Web of Science ®Google Scholar
• Teofili L, Larocca LM. Advances in understanding the pathogenesis of familial thrombocythaemia. Br J Haematol. 2011;152(6):701–12. doi:10.1111/j.1365-2141.2010.08500.x.
   PubMed Web of Science ®Google Scholar
• Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270. doi:10.1371/journal.pmed.0030270.
   PubMed Web of Science ®Google Scholar
• Bellanne-Chantelot C, Mosca M, Marty C, Favier R, Vainchenker W, Plo I. Identification of MPL R102P mutation in hereditary thrombocytosis. Front Endocrinol (Lausanne). 2017;8:235. doi:10.3389/fendo.2017.00235.
   PubMed Web of Science ®Google Scholar
• Al-Harbi T, Al-Zahrani M, Al-Balwi M, Al‐Hazmi A, Alsuhaibani A, Aljafn N, Alsumari F, Aleshaiwi L, Alsuhibani A, Alqasim O, et al. Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation-associated familial thrombocytosis: a review of 64 paediatric and adult patients. Br J Haematol. 2021;194(5):893–8. doi:10.1111/bjh.17624.
   PubMed Web of Science ®Google Scholar
• Vasseur L, Favier R, Kim R, Rabian F, Cabannes‐Hamy A, Cassinat B, Maslah N, Vasquez N, Clappier E, Kiladjian J-J, et al. Clonal evolution in hereditary thrombocytosis with MPL T487A mutation. Pediatr Blood Cancer. 2023;70(2):e29905. doi:10.1002/pbc.29905.
   PubMed Web of Science ®Google Scholar
• Rendo M, Cavacece C, Kou CJ, Beeler BW, Fenderson J. Familial essential thrombocythemia with novel MPL L502G and G208K mutations. Cureus. 2022;14(3):e23220. doi:10.7759/cureus.23220.
   PubMed Web of Science ®Google Scholar
• Muller J, Porret NA, Rufer A. Identification of a JAK2 FERM domain variant associated with hereditary thrombocytosis. Hemasphere. 2021;5(8):e626. doi:10.1097/HS9.0000000000000626.
   PubMed Web of Science ®Google Scholar
• Shiraishi J, Matsumoto H, Hirayama H. Experimental blood cell counting on several kinds of animals with an automated hematology analyzer. Sysmex J Int. 2007;17:1–7.
   Google Scholar
• Chan ER, Lavender H, Li G, Haviernik P, Bunting KD, Adams MD. An ENU-induced recessive mutation in Mpl leads to thrombocytopenia with overdominance. Exp Hematol. 2009;37(2):276–84. doi:10.1016/j.exphem.2008.10.005.
   PubMed Web of Science ®Google Scholar
• Spivak JL, Merchant A, Williams DM, Rogers O, Zhao W, Duffield A, Resar LS, Moliterno AR, Zhao ZJ. Thrombopoietin is required for full phenotype expression in a JAK2V617F transgenic mouse model of polycythemia vera. PLoS One. 2020;15(6):e0232801. doi:10.1371/journal.pone.0232801.
   PubMed Web of Science ®Google Scholar
• Kakumitsu H, Kamezaki K, Shimoda K, Karube K, Haro T, Numata A, Shide K, Matsuda T, Oshima K, Harada M, et al. Transgenic mice overexpressing murine thrombopoietin develop myelofibrosis and osteosclerosis. Leuk Res. 2005;29(7):761–9. doi:10.1016/j.leukres.2004.12.009.
   PubMed Web of Science ®Google Scholar
• Frey BM, Rafii S, Teterson M, Eaton D, Crystal RG, Moore MA. Adenovector-mediated expression of human thrombopoietin cDNA in immune-compromised mice: insights into the pathophysiology of osteomyelofibrosis. J Immunol. 1998;160(2):691–9. doi:10.4049/jimmunol.160.2.691.
   PubMed Web of Science ®Google Scholar
• Adriaanse FRS, Kamens JL, Vogel P, Sakurada SM, Pruett-Miller SM, Stam RW, Michel Zwaan C, Gruber TA. A CRISPR/Cas9 engineered Mpl(S504N) mouse model recapitulates human myelofibrosis. Leukemia. 2022;36(10):2535–8. doi:10.1038/s41375-022-01684-0.
   PubMed Web of Science ®Google Scholar