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.
2007
LA STARZA, R; Rosati, R; Roti, G; Gorello, P; Bardi, A; Crescenzi, B; Pierini, V; Calabrese, O; Baens, M; Folens, C; Cools, J; Marynen, P; Martelli, Mf; Mecucci, C; Cuneo, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/494268
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