Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group
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Silvia Bresolin1, Paola De Filippi2, Francesca Vendemini3, Mirko D’Alia2, Marco Zecca4, Lueder H. Meyer5, Cesare Danesino2, Franco Locatelli6, Riccardo Masetti3, Giuseppe Basso1, Geertruy te Kronnie1
1Department of Women’s and Children’s Health, Laboratory of Oncohematology, University of Padova, Padova, Italy
2Department of Molecular Medicine, University of Pavia, Pavia, Italy
3Oncologia ed Ematologia Pediatrica “Lalla Seràgnoli”, University of Bologna, Ospedale S. Orsola Malpinghi, Bologna, Italy
4Oncoematologia Pediatrica, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Policlinico San Matteo, Pavia, Italy
5Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm, Germany
6Department of Pediatric Onco-Hematology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, University of Pavia, Pavia, Italy
Silvia Bresolin, email: [email protected]
Keywords: JMML, SETBP1, JAK3, murine model
Received: November 27, 2015 Accepted: February 21, 2016 Published: March 09, 2016
Juvenile myelomonocytic leukemia (JMML) is a rare aggressive disease of early childhood. Driver mutations in the Ras signaling pathways are a key feature of JMML patients. Mutations in SETBP1 and JAK3 were recently identified in a subset of JMML patients characterized by poor prognosis and progression of disease. In this study, we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with JMML, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1.
JMML xenotransplantation and colony assay provide an initial understanding of the secondary nature of these events occurring in early precursor cells and suggest a different propagating capacity of clones harboring particular mutations.
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