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

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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.

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Abbreviations

JMML:

Juvenile myelomonocytic leukemia

LS:

LEOPARD syndrome

MPD:

Myeloproliferative disease

NS:

Noonan syndrome

NS/JMML:

Juvenile myelomonocytic leukemia associated with Noonan syndrome

PTPN11:

Protein tyrosine phosphatase, non-receptor type 11

SHP-2:

Src homology 2 domain-containing tyrosine phosphatase 2

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Acknowledgements

We thank Dr. Michaelsen and Dr. Schlegelberger (Institute of Cell and Molecular Pathology, Hannover Medical School) for performing the FISH analyses.

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Authors and Affiliations

  1. Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

    Christian Peter Kratz, Cornelia Klein, Ayami Yoshimi & Charlotte Marie Niemeyer

  2. Department of Pediatrics, Munich University of Technology, Munich, Germany

    Michaela Nathrath, Peter Freisinger, Petra Dressel & Stefan Burdach

  3. Department of Pathology, Munich City Hospital Medical Center, Munich-Schwabing, Germany

    Hans-Peter Assmuss

  4. Zentrum für Kinderheilkunde und Jugendmedizin, IV Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Freiburg, Albert-Ludwigs-Universität, Mathildenstr. 1, 79106, Freiburg, Germany

    Christian Peter Kratz

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  1. Christian Peter Kratz
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Correspondence to Christian Peter Kratz.

Additional information

The first two authors contributed equally to this article.

This work was supported by the Deutsche José Carreras Leukämie-Stiftung e.V. (C.P.K. and C.K.) and Bayrisches Staatsministerium für Wissenschaft, Forschung und Kunst (S.B.). There is no potential conflict of interest, real or perceived.

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Kratz, C.P., Nathrath, M., Freisinger, P. et al. Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation. Eur J Pediatr 165, 182–185 (2006). https://doi.org/10.1007/s00431-005-0031-x

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  • DOI: https://doi.org/10.1007/s00431-005-0031-x

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