@article{de01351862a748dc9627b2b4ddece76d,
title = "Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia",
abstract = "Myelodysplastic syndromes (MDS) are comprised of a heterogeneous group of stem cell disorders characterized by ineffective hematopoiesis and susceptibility to transform to acute myeloid leukemia. The molecular pathways underlying disease initiation and evolution are still largely unknown. We recently demonstrated that acquired mutations in PTPN11 are a major event in JMML and occur with variable prevalence in children with other hematologic malignancies, including MDS. Here, we investigated contribution of PTPN11 mutations to adult MDS and CMML pathogenesis. Our results indicate that PTPN11 lesions might play a role in adult MDS/CMML pathogenesis but do not represent a major molecular event.",
keywords = "CMML, MDS, PTPN11, RAS signaling, SHP-2",
author = "Loh, {Mignon L.} and Simone Martinelli and Viviana Cordeddu and Reynolds, {Melissa G.} and Shashaank Vattikuti and Lee, {Connie M.} and Michael Wulfert and Ulrich Germing and Peter Haas and Charlotte Niemeyer and Beran, {Miloslav E.} and Sara Strom and Michael L{\"u}bbert and Mariella Sorcini and Estey, {Elihu H.} and Norbert Gattermann and Marco Tartaglia",
note = "Funding Information: The study was supported in part by grants from Ricerca finalizzata 1% FSN-2003 (Stabilit{\`a} del genoma: bersagli molecolari nella prevenzione e nel controllo delle neoplasie), Ricerca corrente ISS-2003 ( PTPN11 e tumori : epidemiologia molecolare e studi funzionali), and Telethon-Italy GGP04172 (to MT), and NIH CA104282, CA095621, the Hope Street Kids Foundation, the Frank A. Campini foundation, and the Jeffrey and Karen Peterson Family Foundation (to MLL). Contributions . Conception and design: Mignon L. Loh, Norbert Gattermann, and Marco Tartaglia. Analysis and interpretation of data: Simone Martinelli, Viviana Cordeddu, Melissa G. Reynolds, Shashaank Vattikuti, Connie M. Lee, Mignon L. Loh, and Marco Tartaglia. Critical revision of the article for important intellectual content: Michael L{\"u}bbert, Charlotte Niemeyer, and Mariella Sorcini. Provision of study materials or patients: Michael Wulfert, Ulrich Germing, Peter Haas, Charlotte Niemeyer, Michael L{\"u}bbert, Miloslav E. Beran, Sara Strom, Elihu H. Estey, and Norbert Gattermann. Collection or assembly of data: Mignon L. Loh, Norbert Gattermann, and Marco Tartaglia.",
year = "2005",
month = apr,
doi = "10.1016/j.leukres.2004.10.001",
language = "English (US)",
volume = "29",
pages = "459--462",
journal = "Leukemia Research",
issn = "0145-2126",
publisher = "Elsevier Limited",
number = "4",
}