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RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases

Cristina Romei1, Raffaele Ciampi1, Francesca Casella1

  • 1Endocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, Pisa, Italy.

Oncotarget
|March 9, 2018
PubMed
Abstract

Insights

Medullary thyroid cancer (MTC) shows genetic heterogeneity in RET mutations between primary and metastatic tumors. This RET genetic variation was observed in approximately 20% of advanced MTC cases studied.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Medullary Thyroid Cancer (MTC) pathogenesis is linked to RET proto-oncogene alterations.
  • Previous studies indicate a heterogeneous RET mutation profile within MTC subpopulations.

Purpose of the Study:

  • To investigate the RET somatic mutation profile in primary MTC and corresponding metastatic tissues.
  • To analyze advanced metastatic MTC cases for RET genetic heterogeneity.

Main Methods:

  • Analysis of 209 specimens from 56 MTC patients (50 somatic, 6 hereditary).
  • Direct sequencing used to determine RET mutation profiles.
  • Multiplex ligation-dependent probe amplification (MLPA) assessed RET allele copy number variations.

Main Results:

  • A distinct RET mutation profile was observed in primary versus metastatic tissues in ~20% of cases.
  • Intratumor RET heterogeneity was detected in 8% of MTC tumors.
  • RET somatic mutations were highly prevalent (90%) in advanced MTC.
  • Imbalances in RET copy number were identified in some patients.

Conclusions:

  • This study confirms significant genetic intra- and intertumor heterogeneity in MTC.
  • The observed heterogeneity, while present, is less pronounced than in highly aggressive human tumors.
  • Findings may help explain the moderate aggressiveness of MTC compared to other cancers.
Keywords:
RETgenetic instabilitymedullary thyroid carcinomatumor clonality

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