G2Cdb::Human Disease report

Disease id
D00000096
Name
Chronic myelomonocytic leukaemia
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001453 PTPN11
protein tyrosine phosphatase, non-receptor type 11
Y (15725481) Unknown (?) ?

References

  • Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.

    Loh ML, Martinelli S, Cordeddu V, Reynolds MG, Vattikuti S, Lee CM, Wulfert M, Germing U, Haas P, Niemeyer C, Beran ME, Strom S, Lübbert M, Sorcini M, Estey EH, Gattermann N and Tartaglia M

    Department of Pediatrics, University of California, San Francisco, CA, USA.

    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.

    Funded by: Telethon: GGP04172

    Leukemia research 2005;29;4;459-62

Literature (1)

Pubmed - other

  • Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.

    Loh ML, Martinelli S, Cordeddu V, Reynolds MG, Vattikuti S, Lee CM, Wulfert M, Germing U, Haas P, Niemeyer C, Beran ME, Strom S, Lübbert M, Sorcini M, Estey EH, Gattermann N and Tartaglia M

    Department of Pediatrics, University of California, San Francisco, CA, USA.

    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.

    Funded by: Telethon: GGP04172

    Leukemia research 2005;29;4;459-62

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.