| MELAZZINI, Federica, Flavia PALOMBO, Alessandra BALDUINI, Daniela DE ROCCO, Caterina MARCONI, Patrizia NORIS, Chiara GNAN, Tommaso PIPPUCCI, Valeria BOZZI, Michela FALESCHINI, Serena BAROZZI, Michael DOUBEK, Christian A. DI BUDUO, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Giuseppe LOFFREDO, Šárka POSPÍŠILOVÁ, Caterina ALFANO, Marco SERI, Carlo L. BALDUINI, Alessandro PECCI a Anna SAVOIA. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. Pavia: Ferrata Storti Foundation, 2016, roč. 101, č. 11, s. 1333-1342. ISSN 0390-6078. Dostupné z: https://dx.doi.org/10.3324/haematol.2016.147496. |
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@article{1372864,
author = {Melazzini, Federica and Palombo, Flavia and Balduini, Alessandra and De Rocco, Daniela and Marconi, Caterina and Noris, Patrizia and Gnan, Chiara and Pippucci, Tommaso and Bozzi, Valeria and Faleschini, Michela and Barozzi, Serena and Doubek, Michael and Di Buduo, Christian A. and Staňo Kozubík, Kateřina and Radová, Lenka and Loffredo, Giuseppe and Pospíšilová, Šárka and Alfano, Caterina and Seri, Marco and Balduini, Carlo L. and Pecci, Alessandro and Savoia, Anna},
article_location = {Pavia},
article_number = {11},
doi = {http://dx.doi.org/10.3324/haematol.2016.147496},
keywords = {acute lymphoblastic leukemia; ETV6; thrombocytopenia},
language = {eng},
issn = {0390-6078},
journal = {Haematologica},
title = {Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia},
url = {http://www.haematologica.org/content/101/11/1333},
volume = {101},
year = {2016}
}
TY - JOUR
ID - 1372864
AU - Melazzini, Federica - Palombo, Flavia - Balduini, Alessandra - De Rocco, Daniela - Marconi, Caterina - Noris, Patrizia - Gnan, Chiara - Pippucci, Tommaso - Bozzi, Valeria - Faleschini, Michela - Barozzi, Serena - Doubek, Michael - Di Buduo, Christian A. - Staňo Kozubík, Kateřina - Radová, Lenka - Loffredo, Giuseppe - Pospíšilová, Šárka - Alfano, Caterina - Seri, Marco - Balduini, Carlo L. - Pecci, Alessandro - Savoia, Anna
PY - 2016
TI - Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia
JF - Haematologica
VL - 101
IS - 11
SP - 1333-1342
EP - 1333-1342
PB - Ferrata Storti Foundation
SN - 03906078
KW - acute lymphoblastic leukemia
KW - ETV6
KW - thrombocytopenia
UR - http://www.haematologica.org/content/101/11/1333
L2 - http://www.haematologica.org/content/101/11/1333
N2 - ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. To gain further information on this disorder, we searched for ETV6 mutations in the 130 families with inherited thrombocytopenia of unknown origin from our cohort of 274 consecutive pedigrees with familial thrombocytopenia. We identified 20 patients with ETV6-related thrombocytopenia from seven pedigrees. They have five different ETV6 variants, including three novel mutations affecting the highly conserved E26 transformation-specific domain. The relative frequency of ETV6-related thrombocytopenia was 2.6% in the whole case series and 4.6% among the families with known forms of inherited thrombocytopenia. The degree of thrombocytopenia and bleeding tendency of the patients with ETV6-related thrombocytopenia were mild, but four subjects developed B-cell acute lymphoblastic leukemia during childhood, resulting in a significantly higher incidence of this condition compared to that in the general population. Clinical and laboratory findings did not identify any particular defects that could lead to the suspicion of this disorder from the routine diagnostic workup. However, at variance with most inherited thrombocytopenias, platelets were not enlarged. In vitro studies revealed that the maturation of the patients' megakaryocytes was defective and that the patients have impaired proplatelet formation. Moreover, platelets from patients with ETV6-related thrombocytopenia have reduced ability to spread on fibrinogen. Since the dominant thrombocytopenias due to mutations in RUNX1 and ANKRD26 are also characterized by normal platelet size and predispose to hematologic malignancies, we suggest that screening for ETV6, RUNX1 and ANKRD26 mutations should be performed in all subjects with autosomal dominant thrombocytopenia and normal platelet size.
ER -
MELAZZINI, Federica, Flavia PALOMBO, Alessandra BALDUINI, Daniela DE ROCCO, Caterina MARCONI, Patrizia NORIS, Chiara GNAN, Tommaso PIPPUCCI, Valeria BOZZI, Michela FALESCHINI, Serena BAROZZI, Michael DOUBEK, Christian A. DI BUDUO, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Giuseppe LOFFREDO, Šárka POSPÍŠILOVÁ, Caterina ALFANO, Marco SERI, Carlo L. BALDUINI, Alessandro PECCI a Anna SAVOIA. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. \textit{Haematologica}. Pavia: Ferrata Storti Foundation, 2016, roč.~101, č.~11, s.~1333-1342. ISSN~0390-6078. Dostupné z: https://dx.doi.org/10.3324/haematol.2016.147496.
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