Download PDF
Thromb Haemost 2010; 104(04): 858-859
DOI: 10.1160/TH10-01-0041
Letters to the Editor
Schattauer GmbH

Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia

Fabrizio Fabris
1   Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy
,
Raffaella Scandellari
1   Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy
,
Silvia Vettore
1   Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy
,
Margherita Scapin
1   Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy
,
Nicola Bizzaro
2   Department of Clinical Pathology, Tolmezzo Civic Hospital, Tolmezzo, Italy
,
Maria L. Randi
1   Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy
› Author Affiliations
Further Information

Publication History

Received: 14 January 2010

Accepted after minor revision: 11 June 2010

Publication Date:
24 November 2017 (online)

Also available at
    Permissions and Reprints

 

 

  • References

  • 1 Althaus K, Greinacher A. MYH9-related platelet disorders.. Semin Thromb Haemost 2009; 35: 189-203.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 2 Savoia A, De Rocco D, Panza E. et al. Heavy chain myosin 9-related disease (MYH9 -RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.. Thromb Haemost 2010; 103: 826-832.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 3 Pecci A, Panza E, Pujol-Moix N. et al. Position of Nonmuscle Myosin Heavy Chain IIA (NMMHCIIA) mutations predicts the natural history of MYH9-related disease.. Hum Mutat 2008; 29: 409-417.
    CrossrefPubMedGoogle Scholar
  • 4 Nurden P, Nurden AT. Congenital disorders associated with platelet disfunction.. Thromb Haemost 2008; 99: 253-263.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Girolami A, Randi M, Casonato A. et al. A study of platelet function and morphology in a new family with May-Hegglin anomaly.. Folia Haematol Int Mag Klin Morphol Blutforsch 1980; 107: 256-268.
    PubMedGoogle Scholar
  • 6 Pecci A, Malara A, Badalucco S. et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation.. Thromb Haemost 2009; 102: 90-96.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Speletas M, Katodritou E, Daiou C. et al. Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders.. Leuk Res 2007; 31: 1053-1062.
    CrossrefPubMedGoogle Scholar
  • 8 Dentali F, Squizzato A, Brivio L. et al. JAKV617F mutation for the early diagnosis of Ph-myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis.. Blood 2009; 113: 5617-5623.
    CrossrefPubMedGoogle Scholar
  • 9 Lussana F, Caberlon S, Pagani C. et al. Association of V617F Jak2 mutation with the risk of thrombosis among patients with essential thrombocythaemia or idiopathic myelofibrosis: a systematic review.. Thromb Res 2009; 124: 409-417.
    CrossrefPubMedGoogle Scholar
  • 10 McDunn S, Hartz W, Ts’ao C, Green D. Coronary thrombosis in a patient with May-Hegglin anomaly.. Am J Clin Pathol 1991; 95: 715-718.
    CrossrefPubMedGoogle Scholar
  • 11 Goto S, Hasahara H, Sakai H. et al. Functional compensation of the low platelet count by increased individual platelet size in a patient with May-Hegglin anomaly presenting with acute infarction.. Int J Cardiol 1998; 64: 171-177.
    CrossrefPubMedGoogle Scholar
  • 12 Everlien M, Knoch K, Farah I, Greve H. Koronare bypassoperation bei May-Hegglin-Anomalie (Coronary bypass surgery in May-Hegglin anomaly).. Dtsch Med Wochenschr 2001; 126: 47-49.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 13 Varbella F, Bongioanni S, Gagnor A. et al. (Primary angioplasty in a patient with the May-Hegglin anomaly, a rare hereditary thrombocytopenia.. A case report and review of the literature.) Ital Heart J Suppl 2005; 6: 214-217.
    PubMedGoogle Scholar
  • 14 Heller PG, Pecci A, Glembotsky AC. et al. Unexplained recurrent venous thrombosis in a patient with MYH9-related disease.. Platelets 2006; 17: 274-275.
    CrossrefPubMedGoogle Scholar
  • 15 Nishiyama Y, Akaishi J, Katsumata T. et al. Cerebral infarction in a patient with macrothrombocytopenia with leucocyte inclusions.. J Nippon Med Sch 2008; 75: 228-232.
    CrossrefPubMedGoogle Scholar