Identification of MPL R102P mutation in hereditary thrombocytosis

Frontiers in Endocrinology

Volumn 8, Issue SEP, 2017, Pages

  Bellanné Chantelot, Christine ^a,b   Mosca, Matthieu ^a,c   Marty, Caroline ^a,c   Favier, Rémi ^a,d   Vainchenker, William ^a,c   Plo, Isabelle ^a,c  

^a INSTITUT GUSTAVE ROUSSY   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Universite Paris Sud   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

CAMT; JAK2; MPL R102P; Thrombocytopenia; Thrombocytosis; Thrombopoietin

Indexed keywords

THROMBOPOIETIN;

ADULT; ARTICLE; CASE REPORT; CELL PROLIFERATION; CLINICAL ARTICLE; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE; GENE SEQUENCE; GENETIC DISORDER; HUMAN; MALE; MEGAKARYOPOIESIS; MPL GENE; MYELOPROLIFERATIVE NEOPLASM; POINT MUTATION; THROMBOCYTE COUNT; THROMBOCYTOSIS; UPREGULATION; YOUNG ADULT;

EID: 85029691170     PISSN: None     EISSN: 16642392     Source Type: Journal    
DOI: 10.3389/fendo.2017.00235     Document Type: Article

References (17)

1. Ghilardi N, Skoda RC. A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA. Blood (1999) 94:1480-2.
2. Kondo T, Okabe M, Sanada M, Kurosawa M, Suzuki S, Kobayashi M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene. Blood (1998) 92:1091-6.
3. 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) 18:49-52. doi:10.1038/ng0198-49.
4. Etheridge SL, Cosgrove ME, Sangkhae V, Corbo LM, Roh ME, Seeliger MA, et al. A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood (2014) 123:1059-68. doi:10.1182/blood-2012-12-473777.
5. Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, et al. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood (2014) 123:1372-83. doi:10.1182/blood-2013-05-504555.
6. Mead AJ, Rugless MJ, Jacobsen SE, Schuh A. Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med (2012) 366:967-9. doi:10.1056/NEJMc1200349.
7. Rumi E, Harutyunyan AS, Casetti I, Pietra D, Nivarthi H, Moriggl R, et al. A novel germline JAK2 mutation in familial myeloproliferative neoplasms. Am J Hematol (2014) 89:117-8. doi:10.1002/ajh.23614.
8. Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, 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) 103:4198-200. doi:10.1182/blood-2003-10-3471.
9. El-Harith el HA, Roesl C, Ballmaier M, Germeshausen M, Frye-Boukhriss H, von Neuhoff N, et al. Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol (2009) 144:185-94. doi:10.1111/j.1365-2141.2008.07430.x.
10. Favale F, Messaoudi K, Varghese LN, Boukour S, Pecquet C, Gryshkova V, et al. An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L. Blood (2016) 128:3146-58. doi:10.1182/blood-2016-06-722058.
11. 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 U S A (2004) 101:11444-7. doi:10.1073/pnas.0404241101.
12. Tijssen MR, di Summa F, van den Oudenrijn S, Zwaginga JJ, van der Schoot CE, Voermans C, et al. Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. Br J Haematol (2008) 141:808-13. doi:10.1111/j.1365-2141.2008.07139.x.
13. van den Oudenrijn S, Bruin M, Folman CC, Peters M, Faulkner LB, de Haas M, et al. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol (2000) 110:441-8. doi:10.1046/j.1365-2141.2000.02175.x.
14. Varghese LN, Zhang JG, Young SN, Willson TA, Alexander WS, Nicola NA, et al. Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. Growth Factors (2014) 32:18-26. doi:10.3109/08977194.2013.874347.
15. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med (2006) 3:e270. doi:10.1371/journal.pmed.0030270.
16. Lannutti BJ, Epp A, Roy J, Chen J, Josephson NC. Incomplete restoration of Mpl expression in the mpl-/-mouse produces partial correction of the stem cell-repopulating defect and paradoxical thrombocytosis. Blood (2009) 113:1778-85. doi:10.1182/blood-2007-11-124859.
17. Tiedt R, Coers J, Ziegler S, Wiestner A, Hao-Shen H, Bornmann C, et al. Pronounced thrombocytosis in transgenic mice expressing reduced levels of Mpl in platelets and terminally differentiated megakaryocytes. Blood (2009) 113:1768-77. doi:10.1182/blood-2008-03-146084.