Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation

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 PTPN1...

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Bibliographic Details
Published in:European journal of pediatrics 2006-03, Vol.165 (3), p.182-185
Main Authors: KRATZ, Christian Peter, NATHRATH, Michaela, FREISINGER, Peter, DRESSEL, Petra, ASSMUSS, Hans-Peter, KLEIN, Cornelia, YOSHIMI, Ayami, BURDACH, Stefan, NIEMEYER, Charlotte Marie
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diagnosis, Differential
Fatal Outcome
General aspects
Germ-Line Mutation
Hematologic and hematopoietic diseases
Humans
Infant, Newborn
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical sciences
Noonan Syndrome - diagnosis
Noonan Syndrome - genetics
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-005-0031-x