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Tumor development in three patients with Noonan syndrome

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Abstract

The diagnosis of Noonan syndrome is essentially clinical, based upon the distinct phenotype and the involvement of the cardiovascular system. Tumor development is a rare manifestation of Noonan syndrome but can be explained by the molecular pathophysiology involved in the disorder. We present three Noonan patients who developed solid tumors. The first patient, a 4-year-old girl, developed granular cell tumors as did her mother in childhood. The second patient, a 1-year-old boy, had a low grade pilocytic astrocytoma, the clinical expression of which was persistent headache. MRI showed a pituitary mass in the posterior lobe. It was surgically removed. The third patient, a 7-year-old boy was found to have Sertoli tumors in his right cryptorchid testis. All three patients fulfilled the clinical criteria for Noonan syndrome. However, genetic testing was negative in patients 1 and 3. The diagnosis of Noonan syndrome was made based on distinct phenotypic findings in three patients who had different types of tumors.

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Abbreviations

ECG:

Electrocardiograph

EGF:

Epithelial growth factor

EGFR:

Epithelial growth factor receptor

FGF:

Fibroblast growth factor

GFAP:

Glial fibrillary acidic protein

HGF:

Hepatocyte growth factor

IL-1:

Interleukin 1

KRAS:

Kirsten rat sarcoma viral oncogene homologue

MRI:

Magnetic resonance imaging

NFP:

Neurofilament protein

NS:

Noonan syndrome

NSE:

Neuron-specific enolase

PTPN11:

Protein tyrosine phosphatase, nonreceptor type 11

RAF:

Murine sarcoma viral oncogene homologue

RAS:

Rat sarcoma viral oncogene homologue

SIADH:

Syndrome of inappropriate antidiuretic hormone

SOS1:

Son of sevenless drosophila, homologue 1

TNF:

Tumor necrosis factor

WHO:

World Health Organisation

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Authors and Affiliations

  1. Medical Genetics, University of Athens Medical School, “Aghia Sophia” Children’s Hospital, Thivon and Levadias, 11527, Goudi, Athens, Greece

    Helen Fryssira, George Leventopoulos, Stavroula Psoni, Sophia Kitsiou-Tzeli & Emmanuel Kanavakis

  2. Dermatological Clinic of University of Athens, Attikon Hospital, Athens, Greece

    Nikolaos Stavrianeas

Authors
  1. Helen Fryssira
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  2. George Leventopoulos
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  3. Stavroula Psoni
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  4. Sophia Kitsiou-Tzeli
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  5. Nikolaos Stavrianeas
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  6. Emmanuel Kanavakis
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Correspondence to George Leventopoulos.

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Fryssira, H., Leventopoulos, G., Psoni, S. et al. Tumor development in three patients with Noonan syndrome. Eur J Pediatr 167, 1025–1031 (2008). https://doi.org/10.1007/s00431-007-0636-3

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  • DOI: https://doi.org/10.1007/s00431-007-0636-3

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