ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism

Michela Faleschini; Daniele Ammeti; Nicole Papa; Caterina Alfano; Roberta Bottega; Giorgia Fontana; Valeria Capaci; Melania E Zanchetta; Federico Pozzani; Francesca Montanari; Valeria Petroni; Paola Giordano; Patrizia Noris; Fiorina Giona; Anna Savoia

doi:10.3324/haematol.2022.280729

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism

Haematologica. 2022 Sep 1;107(9):2249-2254. doi: 10.3324/haematol.2022.280729.

Authors

Affiliations

¹ Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
² Department of Medical Sciences, University of Trieste, Trieste.
³ Structural Biology and Biophysics Unit, Fondazione Ri.MED, Palermo.
⁴ Department of Life Sciences, University of Trieste, Trieste.
⁵ Sant'Orsola-Malpighi University Hospital, Medical Genetics Unit, Bologna.
⁶ SOSD Pediatric Oncohematology, University Hospital "Ospedali Riuniti", Ancona.
⁷ Interdisciplinary department of Medicine, Pediatric Unit, University "A.Moro" of Bari, Bari.
⁸ Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia.
⁹ Department of Translational and Precision Medicine, Sapienza University of Rome, Rome.
¹⁰ Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. anna.savoia@burlo.trieste.it.

No abstract available

MeSH terms

Humans
Mutation
Oncogene Proteins, Fusion / genetics
Proto-Oncogene Proteins c-ets / genetics
Thrombocytopenia* / diagnosis
Thrombocytopenia* / genetics
Thrombocytopenia* / pathology

Substances

Oncogene Proteins, Fusion
Proto-Oncogene Proteins c-ets

Grants and funding

Funding: This study was supported by IRCCS “Burlo Garofolo” (Ricerca Corrente 01/2018), AIRC Grant IG-21974 and IRCCS Policlinico San Matteo Foundation (Ricerca corrente 2018 intramural research grant to NP).