The ret/PTC mutations are common in sporadic papillary thyroid carcinoma of children and young adults

J Clin Endocrinol Metab. 2000 Mar;85(3):1170-5. doi: 10.1210/jcem.85.3.6472.

Abstract

The ret/PTC rearrangements (PTC-1, PTC-2, and PTC-3) are characteristic of papillary thyroid cancer (PTC). In adults, PTC-1 is common and may be associated with an aggressive clinical course. The incidence and significance of ret/PTC mutations are less well understood in children. We examined spontaneous PTC from 33 patients (23 females and 10 males) with a median age of 18 yr (range, 6-21 yr) and a median follow-up of 3.5 yr (range, 0-13.4 yr). The ret/PTC mutations were identified in 15 tumors (45%), including 8 PTC-1 (8 of 15, 53%), 2 PTC-2 (2 of 15, 13%), 2 PTC-3 (2 of 15, 13%), and 3 (3 of 15, 20%) combined PTC mutations (PTC-1 and PTC-2). This distribution is significantly different (P = 0.001, by chi2 analysis) from that reported for children with radiation-induced PTC. There was no correlation between the presence or type of ret/PTC mutation and patient age, tumor size, focality, extent of disease at diagnosis, or recurrence. We conclude that ret/PTC mutations are 1) common in sporadic childhood PTC, 2) predominantly PTC-1, 3) frequently multiple, and 4) of different distribution than that reported for children with radiation-induced PTC.

Publication types

  • Clinical Trial
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Carcinoma, Papillary / genetics*
  • Child
  • Cohort Studies
  • DNA, Complementary / genetics
  • DNA, Complementary / isolation & purification
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Protein-Tyrosine Kinases
  • RNA, Neoplasm / genetics
  • RNA, Neoplasm / isolation & purification
  • Radioactive Hazard Release
  • Registries
  • Reverse Transcriptase Polymerase Chain Reaction
  • Thyroid Neoplasms / genetics*
  • Ukraine

Substances

  • DNA, Complementary
  • Oncogene Proteins, Fusion
  • RNA, Neoplasm
  • Protein-Tyrosine Kinases
  • ret-PTC fusion oncoproteins, human