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The Journal of Clinical Endocrinology & Metabolism Vol. 85, No. 3 1170-1175
Copyright © 2000 by The Endocrine Society

Original Studies

The ret/PTC Mutations Are Common in Sporadic Papillary Thyroid Carcinoma of Children and Young Adults1

Cydney L. Fenton, Yvonne Lukes, Diarmuid Nicholson, Catherine A. Dinauer, Gary L. Francis and R. Michael Tuttle

Departments of Pediatrics (C.L.F., C.A.D., G.L.F.) and Clinical Investigation (Y.L., D.N.), Walter Reed Army Medical Center, Washington, D.C. 20307; F. Edward Hebért School of Medicine, Uniformed Services University of Health Sciences (C.L.F., C.A.D., G.L.F.), Bethesda, Maryland 20814; and Endocrine Service, Memorial Sloan-Kettering Cancer Center (R.M.T.), New York, New York 10021

Address all correspondence and requests for reprints to: R. Michael Tuttle, M.D., Memorial Sloan-Kettering Cancer Center, Box 419, 1275 York Avenue, New York, New York 10021. E-mail: rmtuttle{at}hotmail.com

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 {chi}2 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.




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