High-throughput mutation profiling improves diagnostic stratification of sporadic medullary thyroid carcinomas

Virchows Arch. 2014 Jul;465(1):73-8. doi: 10.1007/s00428-014-1589-3. Epub 2014 May 15.

Abstract

Sporadic medullary thyroid carcinoma (MTC) harbors RET gene somatic mutations in up to 50 % of cases, and RAS family gene mutations occur in about 10 %. A timely and comprehensive characterization of molecular alterations is needed to improve MTC diagnostic stratification and design-tailored therapeutic approaches. Twenty surgically resected sporadic MTCs, previously analyzed for RET mutations by Sanger sequencing using DNA from formalin-fixed paraffin-embedded samples, were investigated for intragenic mutations in 50 cancer-associated genes applying a multigene Ion AmpliSeq next-generation sequencing (NGS) technology. Thirteen (65 %) MTCs harbored a RET mutation; 10 were detected at both Sanger and NGS sequencing, while 3 undetected by Sanger were revealed by NGS. One of the 13 RET-mutated cases also showed an F354L germline mutation in STK11. Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). The three remaining MTCs (15 %) resulted as wild-type for all the 50 cancer-related genes. Follow-up was available in all but one RET-mutated case. At the end of follow-up, 7 of 12 (58 %) RET-mutated patients had relapsed, while the 4 RAS-mutated MTC patients were disease-free. Two of the three patients with MTC wild-type for all 50 genes relapsed during the follow-up period. Detection of mutations by NGS has the potential to improve the diagnostic stratification of sporadic MTC.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • AMP-Activated Protein Kinase Kinases
  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma, Medullary / genetics*
  • Carcinoma, Neuroendocrine
  • Child
  • DNA Mutational Analysis / methods
  • Female
  • Germ-Line Mutation
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Male
  • Middle Aged
  • Protein Serine-Threonine Kinases / genetics
  • Proto-Oncogene Proteins c-ret / genetics
  • Proto-Oncogene Proteins p21(ras) / genetics
  • Retrospective Studies
  • Thyroid Neoplasms / genetics*

Substances

  • Proto-Oncogene Proteins c-ret
  • Protein Serine-Threonine Kinases
  • STK11 protein, human
  • AMP-Activated Protein Kinase Kinases
  • Proto-Oncogene Proteins p21(ras)

Supplementary concepts

  • Thyroid cancer, medullary