Successful Management of a Patient with Malignant Thyroid Teratoma

Guilherme Rabinowits*, Justine Barletta, Lynette M. Sholl, Encarnacion Reche, Jochen Lorch, Laura Goguen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Background: Malignant thyroid teratomas are rare tumors with a poor prognosis. Little is known about their pathogenesis or treatment. Here, the case is reported of an adult woman with an aggressive thyroid teratoma with primitive neuroectodermal tumor (PNET) malignant transformation, successfully managed with neoadjuvant chemotherapy and surgery. Patient Findings: Sequencing of paired tumor and normal tissues revealed a DICER1 c.5438A>G (p.E1813G) somatic mutation in 56% of sequencing reads consistent with a driver event. Summary and Conclusions: To the authors' knowledge, DICER1 mutations have not been previously reported in teratomas but have been described in PNETs, suggesting a role in the malignant transformation of this case.

Original languageEnglish (US)
Pages (from-to)125-128
Number of pages4
JournalThyroid
Volume27
Issue number1
DOIs
StatePublished - Jan 2017
Externally publishedYes

Keywords

  • PNET
  • teratoma
  • thyroid cancer
  • treatment
  • tumor sequencing

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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