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Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS)

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Abstract

Patients with PTEN hamartoma tumor syndrome (PHTS) are at increased risk of developing benign and malignant tumors, including thyroid carcinoma. Benign thyroid lesions and single cases of thyroid carcinoma have been reported in children with PHTS. We conducted a retrospective, single-centered study including children and adolescents with a molecularly proven diagnosis of PTEN. Our cohort consists of 16 patients, with a mean age at diagnosis PHTS of 5.7 years. Twelve of 16 cases exhibited thyroid abnormalities (75%). In seven patients, thyroid abnormalities were already present at first ultrasound screening, in five cases they occurred during follow-up. Eight patients underwent thyroidectomy. Histopathology included nodular goiter, follicular adenoma, papillary microcarcinoma in a boy of six and follicular carcinoma in a girl of 13 years. Two patients had autoimmune thyroid disease.

Conclusion: Thyroid disease is common in children with PHTS. Physicians caring for patients with early thyroid abnormalities and additional syndromal features should be aware of PHTS as a potentially underlying disorder. Ultrasound screening should be performed immediately after diagnosis of PHTS and repeated yearly or more frequently. Because of possible early cancer development, we recommend early surgical intervention in the form of total thyroidectomy in cases of suspicious ultrasound findings.

What is Known:

• PHTS patients are at high risk of developing benign and malignant tumors.

• Individual cases of thyroid carcinoma in children have been reported.

What is New:

• Thyroid disease is even more common in children with PHTS (75%) than previously expected.

• Frequently thyroid disease is the first organ pathology requiring diagnostic workup and therefore children with PHTS should be examined for thyroid disease right after diagnosis and receive follow-up on a regular basis throughout life.

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Abbreviations

CEA:

Carcino embryonic antigen

CS:

Cowden Syndrome

FNA:

Fine needle aspiration

MEN2 :

Multiple endocrine neoplasia type 2

MIBI:

Metaiodbenzylguanidin

NCCN:

National comprehensive cancer network

PET-CT:

Positronen-emissions-tomography and computer tomography

PHTS:

PTEN hamartoma tumor syndrome

PTEN:

Phosphatase and tensin homolog

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Authors and Affiliations

  1. Pediatric Endocrinology and Diabetology Division, Children’s Hospital, University of Bonn, Adenauerallee 119, 53113, Bonn, Germany

    Michaela Plamper, Felix Schreiner, Bettina Gohlke & Joachim Woelfle

  2. Institute for Human Genetics, University of Bonn, Sigmund-Freud-Straße 25, 53127, Bonn, Germany

    Janina Kionke & Stefan Aretz

  3. Pediatric Endocrinology, Children’s Hospital, Amsterdamer Straße 59, 50735, Köln, Germany

    Eckard Korsch

  4. Institute of Pathology, University of Mainz, Langenbeckstraße 1, 55131, Mainz, Germany

    James Kirkpatrick

  5. Department of Radiology, Pediatric Radiology, Children’s Hospital, University of Bonn, Adenauerauerallee 119, 53113, Bonn, Germany

    Mark Born

Authors
  1. Michaela Plamper
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  2. Felix Schreiner
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  3. Bettina Gohlke
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  4. Janina Kionke
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  7. Mark Born
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  8. Stefan Aretz
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  9. Joachim Woelfle
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Contributions

Michaela Plamper: Examination of patients, collection of data, discussion of proposal, discussion of results, writing of the manuscript.

Felix Schreiner: Examination of patients, collection of data, critical review of the manuscript.

Bettina Gohlke: Examination of patients, collection of data, critical review of the manuscript.

Janina Kionke: Head of patients’ support group, critical review of the manuscript.

Eckard Korsch: Examination of patients, collection of data, critical review of the manuscript.

James Kirkpatrick: Histological preparation. Imaging of histological results (figures). Critical review of the manuscript. Additional comments in the Section “methods- histopathology”.

Mark Born: Thyroid imaging. Critical review of the manuscript. Additional comments in the section: methods – thyroid imaging.

Stefan Aretz: Discussion of proposal, discussion of results, critical review of the manuscript, genetical analysis.

Joachim Wölfle: Examination of patients, collection of data, discussion of proposal, discussion of results, critical review of the manuscript, and additional writing of parts of the manuscript.

Corresponding author

Correspondence to Michaela Plamper.

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Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Additional information

Communicated by Peter de Winter

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Cite this article

Plamper, M., Schreiner, F., Gohlke, B. et al. Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). Eur J Pediatr 177, 429–435 (2018). https://doi.org/10.1007/s00431-017-3067-9

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  • DOI: https://doi.org/10.1007/s00431-017-3067-9

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