Portal de Periódicos da CAPES

Impact of mutational status on pregnancy outcome in patients with essential thrombocytemia

2015; Ferrata Storti Foundation; Volume: 100; Issue: 11 Linguagem: Inglês

10.3324/haematol.2015.131458

1592-8721

Elisa Rumi, Irene Bertozzi, Ilaria Carola Casetti, Elisa Roncoroni, Chiara Cavalloni, Massimo Bellini, Emanuela Sant’Antonio, Manuel Gotti, Virginia Valeria Ferretti, Chiara Milanesi, Edoardo Peroni, Daniela Pietra, C. Astori, M. L. Randi, Mario Cazzola,

Blood Coagulation and Thrombosis Mechanisms

Impact of mutational status on pregnancy outcome in patients with essential thrombocytemiaEssential thrombocytemia (ET) may occur in women of childbearing age.4][5] The pathogenesis of poor pregnancy outcome has not been fully clarified.Age, parity, thrombophilia, platelet count, leukocyte count, and hemoglobin level have not been found to be predictive of pregnancy outcome in ET; 3-5 however, a 3.4fold higher risk of fetal loss in women with ET than in healthy women has been shown. 3The effect of JAK2 V617F mutation is currently unclear, as it has been associated with an increased rate of pregnancy loss in 2 studies 3,5 but not confirmed in others. 4,6Data regarding the impact of the other MPN-associated mutations are lacking.Two recent papers demonstrated that most of the patients with sporadic ET wild type for both JAK2 and MPL carry somatic mutations of CALR. 7,8The clinical course of sporadic CALR mutated patients has been shown to be more indolent than that of JAK2 mutated cases. 7,9,10he impact of CALR mutations on pregnancy outcome in ET remains to be clarified.In this study we aimed to investigate the correlation between mutational status and pregnancy complications.This study includes 155 pregnancies that occurred in 94 patients with ET who were diagnosed between 1982 and 2014 at the Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo Pavia, and at the First Clinical Medicine of the University of Padova, and for whom at least one DNA sample to assess mutational status was available (DNA collected between 2002 and 2014).Some of these cases (49 out of 94 patients) have been reported in our previous paper. 3This study was approved by the local ethics committees.The procedures followed were in accordance with the Helsinki Declaration, and samples were obtained with patients written informed consent.Diagnosis of ET was made in accordance with the criteria in use at the time of the first observation, as previously described.