The ret/PTC mutations are common in sporadic papillary thyroid carcinoma of children and young adults.
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.
Fenton
C L
CL
Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307, USA.
Lukes
Y
Y
Nicholson
D
D
Dinauer
C A
CA
Francis
G L
GL
Tuttle
R M
RM
D000293:Adolescent; D000328:Adult; D002291:Carcinoma, Papillary / Q000235:genetics*; D002648:Child; D015331:Cohort Studies; D018076:DNA, Complementary / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D011505:Protein-Tyrosine Kinases; D012334:RNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D018788:Radioactive Hazard Release; D012042:Registries; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013964:Thyroid Neoplasms / Q000235:genetics*; D014455:Ukraine
D018076:DNA, Complementary; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; D011505:Protein-Tyrosine Kinases; C093573:ret-PTC fusion oncoproteins, human