Our study shows for the first time a case of CMML with an NDE1/PDGFRB fusion in addition to a missense mutation in exon 3' of PTPN11 underlying NS. The PTPN11 gain-of-function mutation in association with the constitutively phosphorylated tyrosine kinase NDE1/PDGFRB may have triggered CMML in this patient with NS.
A new NDE1/PDGFRB fusion transcript underlyng chronic myelomonocytic leukaemia in Noonan Syndrome
CUNEO, Antonio
2007
Abstract
Our study shows for the first time a case of CMML with an NDE1/PDGFRB fusion in addition to a missense mutation in exon 3' of PTPN11 underlying NS. The PTPN11 gain-of-function mutation in association with the constitutively phosphorylated tyrosine kinase NDE1/PDGFRB may have triggered CMML in this patient with NS.File in questo prodotto:
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