Research Papers:

Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group

Silvia Bresolin _, Paola De Filippi, Francesca Vendemini, Mirko D’Alia, Marco Zecca, Lueder H. Meyer, Cesare Danesino, Franco Locatelli, Riccardo Masetti, Giuseppe Basso and Geertruy te Kronnie

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Oncotarget. 2016; 7:28914-28919. https://doi.org/10.18632/oncotarget.8016

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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

Correspondence to:

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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