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Annals of Hematology

, Volume 94, Issue 9, pp 1599–1600 | Cite as

A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia

  • Jun YamanouchiEmail author
  • Takaaki Hato
  • Shinji Kunishima
  • Toshiyuki Niiya
  • Hisashi Nakamura
  • Masaki Yasukawa
Letter to the Editor

Dear Editor,

MYH9 disorders are characterized by macrothrombocytopenia, leukocyte inclusion bodies, and Alport manifestations including nephropathy, deafness, and cataract, all of which derive from mutations of the MYH9 gene encoding nonmuscle myosin heavy chain IIA (NMMHC-IIA) [1]. The severity of Alport manifestations observed in patients with MYH9 disorders generally depends on mutation sites of MYH9 gene and such a genotype-phenotype relationship has been constructed and extended by a series of case reports [2, 3]. We report here a patient with MYH9 disorders carrying a novel MYH9 mutation. In addition, we report the platelet size-specific effect of romiplostim on macrothrombocytopenia during the treatment for neurosurgery with romiplostim.

A 42-year-old female had long-standing purpura and thrombocytopenia. There were many giant platelets in her peripheral blood, and the platelet count, as determined by phase contrast microscopy, was 25 × 10 9/L, indicating macrothrombocytopenia....

Keywords

Cataract Myosin Heavy Chain Coiled Coil Romiplostim Myosin Filament 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Kunishima S, Saito H (2010) Advances in the understanding of MYH9 disorders. Curr Opin Hematol 17(5):405–410. doi: 10.1097/MOH.0b013e32833c069c PubMedCrossRefGoogle Scholar
  2. 2.
    Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N, French MYH (2014) Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med 2(4):297–312. doi: 10.1002/mgg3.68 PubMedCentralPubMedCrossRefGoogle Scholar
  3. 3.
    Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Guthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A (2014) MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 35(2):236–247. doi: 10.1002/humu.22476 PubMedCrossRefGoogle Scholar
  4. 4.
    Palandri F, Zoli M, Polverelli N, Noris P, Sollazzo D, Catani L, Vianelli N, Palandri G (2015) MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. Br J Haematol. doi: 10.1111/bjh.13324 PubMedGoogle Scholar
  5. 5.
    Pecci A, Barozzi S, d’Amico S, Balduini CL (2012) Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation. Thromb Haemost 107(6):1188–1189. doi: 10.1160/TH12-01-0005 PubMedCrossRefGoogle Scholar
  6. 6.
    Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL (2010) Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 116(26):5832–5837. doi: 10.1182/blood-2010-08-304725 PubMedCrossRefGoogle Scholar
  7. 7.
    Gropper S, Althaus K, Najm J, Haase S, Aul C, Greinacher A, Giagounidis A (2012) A patient with Fechtner syndrome successfully treated with romiplostim. Thromb Haemost 107(3):590–591. doi: 10.1160/TH11-07-0474 PubMedCrossRefGoogle Scholar
  8. 8.
    Balduini CL, Pecci A, Savoia A (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 154(2):161–174. doi: 10.1111/j.1365-2141.2011.08716.x PubMedCrossRefGoogle Scholar
  9. 9.
    Spinler KR, Shin JW, Lambert MP, Discher DE (2015) Myosin-II repression favors pre- /proplatelets but shear activation generates platelets and fails in macrothrombocytopenia. Blood 125(3):525–533. doi: 10.1182/blood-2014-05-576462 PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Jun Yamanouchi
    • 1
    Email author
  • Takaaki Hato
    • 1
    • 2
  • Shinji Kunishima
    • 3
  • Toshiyuki Niiya
    • 4
  • Hisashi Nakamura
    • 5
  • Masaki Yasukawa
    • 1
  1. 1.Department of Hematology, Clinical Immunology and Infectious DiseasesEhime University Graduate School of MedicineToonJapan
  2. 2.Division of Blood Transfusion and Cell TherapyEhime University Graduate School of MedicineToonJapan
  3. 3.Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical CenterNational Hospital OrganizationNagoyaJapan
  4. 4.Division of Laboratory MedicineEhime University Graduate School of MedicineToonJapan
  5. 5.Department of NeurosurgeryJuzen General HospitalNiihamaJapan

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