Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children

Rubina A. Heptulla, Robert P. Schwartz, Allen E. Bale, Stuart Flynn, Myron Genel

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Two kindreds with familial medullary thyroid carcinoma (MTC) are described in which affected family members had variable clinical and pathologic manifestations. Genetic testing in 2 children from one kindred revealed a mutation in exon 10, codon 618 (TGC to AGC) in the extracellular cysteine-rich region of the RET gene. In this kindred an 11-year-old had microscopic evidence of MTC; however, a 17-year-old had no evidence of pathology on thyroidectomy. In a second kindred a rare mutation in exon 14, codon 804 (GTG to TTG) of the intracellular tyrosine kinase region of the RET gene was detected. In this kindred MTC has occurred in the 4th to 5th decades of life, with a clinical spectrum in mutation-positive family members ranging from no disease and C-cell hyperplasia to carcinoma with lymph node metastasis; a 7-year-old with the mutation and a normal response to provocative testing was also identified. Management recommendations in children from families with clearly defined familial MTC may be individualized to reflect emerging genotype-phenotype correlations.

Original languageEnglish (US)
Pages (from-to)327-331
Number of pages5
JournalJournal of Pediatrics
Volume135
Issue number3
StatePublished - 1999
Externally publishedYes

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Mutation
Codon
Exons
Thyroidectomy
Genetic Testing
Genetic Association Studies
Protein-Tyrosine Kinases
Genes
Hyperplasia
Cysteine
Lymph Nodes
Pathology
Neoplasm Metastasis
Carcinoma
Familial medullary thyroid carcinoma
Medullary Thyroid cancer

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Heptulla, R. A., Schwartz, R. P., Bale, A. E., Flynn, S., & Genel, M. (1999). Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. Journal of Pediatrics, 135(3), 327-331.

Familial medullary thyroid carcinoma : Presymptomatic diagnosis and management in children. / Heptulla, Rubina A.; Schwartz, Robert P.; Bale, Allen E.; Flynn, Stuart; Genel, Myron.

In: Journal of Pediatrics, Vol. 135, No. 3, 1999, p. 327-331.

Research output: Contribution to journalArticle

Heptulla, RA, Schwartz, RP, Bale, AE, Flynn, S & Genel, M 1999, 'Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children', Journal of Pediatrics, vol. 135, no. 3, pp. 327-331.
Heptulla RA, Schwartz RP, Bale AE, Flynn S, Genel M. Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children. Journal of Pediatrics. 1999;135(3):327-331.
Heptulla, Rubina A. ; Schwartz, Robert P. ; Bale, Allen E. ; Flynn, Stuart ; Genel, Myron. / Familial medullary thyroid carcinoma : Presymptomatic diagnosis and management in children. In: Journal of Pediatrics. 1999 ; Vol. 135, No. 3. pp. 327-331.
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