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[Management of multiple endocrine neoplasia syndrome type 2 families in association with rare germline mutations of the RET proto-oncogene].
Klin Padiatr. 2004 Sep-Oct; 216(5):270-6.KP

Abstract

INTRODUCTION

Heredity of MEN2 syndromes is caused by a heterozygous germline mutation in the RET proto-oncogene. This study describes families with rare noncysteine codon 790/791 mutations and discusses the genotype-phenotype correlation plus the therapeutic options.

PATIENTS AND METHODS

Forty-five patients with a putative sporadic MTC were screened for RET germline mutations by direct DNA sequencing. Family members of identified index cases underwent genetic analysis. Gene carriers were examined clinically and biochemicaly and underwent prophylactic thyroidectomy.

RESULTS

Five index patients were identified. In the kindreds three L790F and one Y791F carriers were detected. The thyroid gland histology of L790F carriers revealed MTC in 2 patients and C-cell hyperplasia in 2 additional patients. The Y791F carrier had a normal histology.

CONCLUSIONS

Codon 790/791 mutations had diverse penetrance: prophylactic thyreoidectomy in children is a justifiable approach for codon 790 mutation carriers, but should depend on the clinical course of codon 791 carriers.

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Authors+Show Affiliations

Fitze G
Klinik für Kinderchirurgie, Universitätsklinikum "Carl Gustav Carus" der Technischen Universität Dresden. Guido.Fitze@mailbox.tu-dresden.de
Saeger HD
No affiliation info available
Roesner D
No affiliation info available
Schackert HK
No affiliation info available

MeSH

AdolescentAdultBase SequenceCarcinoma, MedullaryChildCodonFemaleGenotypeGerm-Line MutationHeterozygoteHumansMaleMiddle AgedMultiple Endocrine Neoplasia Type 2aMultiple Endocrine Neoplasia Type 2bPedigreePhenotypeProto-Oncogene ProteinsProto-Oncogene Proteins c-retReceptor Protein-Tyrosine KinasesThyroid NeoplasmsThyroidectomy

Pub Type(s)

Comparative Study
English Abstract
Journal Article

Language

ger

PubMed ID

15455293

Citation

Fitze, G, et al. "[Management of Multiple Endocrine Neoplasia Syndrome Type 2 Families in Association With Rare Germline Mutations of the RET Proto-oncogene]." Klinische Padiatrie, vol. 216, no. 5, 2004, pp. 270-6.
Fitze G, Saeger HD, Roesner D, et al. [Management of multiple endocrine neoplasia syndrome type 2 families in association with rare germline mutations of the RET proto-oncogene]. Klin Padiatr. 2004;216(5):270-6.
Fitze, G., Saeger, H. D., Roesner, D., & Schackert, H. K. (2004). [Management of multiple endocrine neoplasia syndrome type 2 families in association with rare germline mutations of the RET proto-oncogene]. Klinische Padiatrie, 216(5), 270-6.
Fitze G, et al. [Management of Multiple Endocrine Neoplasia Syndrome Type 2 Families in Association With Rare Germline Mutations of the RET Proto-oncogene]. Klin Padiatr. 2004 Sep-Oct;216(5):270-6. PubMed PMID: 15455293.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Management of multiple endocrine neoplasia syndrome type 2 families in association with rare germline mutations of the RET proto-oncogene]. AU - Fitze,G, AU - Saeger,H D, AU - Roesner,D, AU - Schackert,H K, PY - 2004/9/30/pubmed PY - 2004/11/16/medline PY - 2004/9/30/entrez SP - 270 EP - 6 JF - Klinische Padiatrie JO - Klin Padiatr VL - 216 IS - 5 N2 - INTRODUCTION: Heredity of MEN2 syndromes is caused by a heterozygous germline mutation in the RET proto-oncogene. This study describes families with rare noncysteine codon 790/791 mutations and discusses the genotype-phenotype correlation plus the therapeutic options. PATIENTS AND METHODS: Forty-five patients with a putative sporadic MTC were screened for RET germline mutations by direct DNA sequencing. Family members of identified index cases underwent genetic analysis. Gene carriers were examined clinically and biochemicaly and underwent prophylactic thyroidectomy. RESULTS: Five index patients were identified. In the kindreds three L790F and one Y791F carriers were detected. The thyroid gland histology of L790F carriers revealed MTC in 2 patients and C-cell hyperplasia in 2 additional patients. The Y791F carrier had a normal histology. CONCLUSIONS: Codon 790/791 mutations had diverse penetrance: prophylactic thyreoidectomy in children is a justifiable approach for codon 790 mutation carriers, but should depend on the clinical course of codon 791 carriers. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/15455293/[Management_of_multiple_endocrine_neoplasia_syndrome_type_2_families_in_association_with_rare_germline_mutations_of_the_RET_proto_oncogene]_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2004-44902 DB - PRIME DP - Unbound Medicine ER -