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.
authors.affiliation: Department of Pediatrics, University of California, San Francisco, CA, USA.
authors.forename: Mignon L
authors.initials: ML
authors.lastname: Loh
authors.forename: Simone
authors.initials: S
authors.lastname: Martinelli
authors.forename: Viviana
authors.initials: V
authors.lastname: Cordeddu
authors.forename: Melissa G
authors.initials: MG
authors.lastname: Reynolds
authors.forename: Shashaank
authors.initials: S
authors.lastname: Vattikuti
authors.forename: Connie M
authors.initials: CM
authors.lastname: Lee
authors.forename: Michael
authors.initials: M
authors.lastname: Wulfert
authors.forename: Ulrich
authors.initials: U
authors.lastname: Germing
authors.forename: Peter
authors.initials: P
authors.lastname: Haas
authors.forename: Charlotte
authors.initials: C
authors.lastname: Niemeyer
authors.forename: Miloslav E
authors.initials: ME
authors.lastname: Beran
authors.forename: Sara
authors.initials: S
authors.lastname: Strom
authors.forename: Michael
authors.initials: M
authors.lastname: Lübbert
authors.forename: Mariella
authors.initials: M
authors.lastname: Sorcini
authors.forename: Elihu H
authors.initials: EH
authors.lastname: Estey
authors.forename: Norbert
authors.initials: N
authors.lastname: Gattermann
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases