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Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation |
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| Authors: | Christian Peter Kratz Michaela Nathrath Peter Freisinger Petra Dressel Hans-Peter Assmuss Cornelia Klein Ayami Yoshimi Stefan Burdach Charlotte Marie Niemeyer |
| Affiliation: | Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany. kratz@kikli.ukl.uni-freiburg.de |
| Abstract: | We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage. |
| Keywords: | Congenital myeloproliferative disorder Juvenile myelomonocytic leukemia SHP-2 |
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