NDLI: New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.

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New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Frank-Raue, K. Döhring, J. Scheumann, G. Rondot, S. Lorenz, A. Schulze, E. Dralle, H. Raue, F. Leidig-Bruckner, G.
Description	Country affiliation: Germany Author Affiliation: Frank-Raue K ( Endocrine Practice, Molecular Laboratory, Heidelberg, Germany. karin.frankraue@raue-endokrinologie.de)
Abstract	UNLABELLED: Clinical studies are needed to classify rare and novel RET mutations associated with hereditary medullary thyroid carcinoma (MTC) into one of the clinical risk groups. Here we describe two new RET mutations/variants, R770Q and L881V, in patients with MTC and analyzed genotype-phenotype correlations associated with these RET mutations in the gene carriers. FAMILY 1: Calcitonin screening in a 42-year-old female patient with multinodular goiter showed elevated levels. RET mutation analysis revealed a new variant in exon 13 R770Q (CGA>CAA) in the patient. A thyroidectomy with central and lateral node dissection was done. Histology showed MTC in a mixed variance with follicular cancer of 2 cm diameter (T2N0M0). Postoperatively there was no increase of calcitonin after pentagastrin stimulation. The patient is biochemically cured concerning MTC and FTC after radioiodine therapy. In the sister of the index patient surprisingly another, previously not described amino-acid substitution Y791N (TAT><) in the RET protooncogene was found. In the parents the R770Q variant was detected in the mother, the Y791N mutation in the father. Another sister carries the R770Q variant. In all other gene carriers (aged 44-70 years), calcitonin levels were in the normal range, therefore, thyroidectomy had not yet been performed. FAMILY 2: In a 46-year-old female patient with nodular goiter thyroidectomy, central and left lateral lymph node dissection was done because of elevated calcitonin levels. Histology revealed a microcarcinoma with one lymph node metastasis (T1N1(1/8)Mx). RET analysis revealed a new mutation in exon 15 L881V (CTG>GTG). The L881V mutation was detected in five other family members. In the first generation stimulated calcitonin levels were in the normal range, therefore thyroidectomy had not yet been performed. In the sons of the index case thyroidectomy revealed CCH in the older one, no MTC in both. In a cousin thyroidectomy is intended because of elevated basal and stimulated calcitonin. CONCLUSION: Our clinical findings indicate that the L881V mutation may be associated with late-onset nonaggressive disease. If the germline RET R770Q variant has a causative role in the pathogenesis of the mixed medullar/follicular derived histology of the thyroid tumour in the index patient of family 1 has to be proven. The recommendations for prophylactic thyroidectomy in these mutations should be individualized depending on basal and stimulated calcitonin levels until more data are available.
File Format	HTM / HTML
ISSN	09477349
Issue Number	8
Volume Number	118
e-ISSN	14393646
Journal	Experimental and Clinical Endocrinology & Diabetes
Language	English
Publisher	Thieme
Publisher Date	2010-08-01
Publisher Place	Germany
Access Restriction	Subscribed
Subject Keyword	Discipline Endocrinology Goiter, Nodular Genetics Mutation Proto-oncogene Proteins C-ret Thyroid Nodule Adenocarcinoma, Follicular Adult Aged Calcitonin Blood Carcinoma, Neuroendocrine Exons Female Radiotherapy Surgery Humans Iodine Radioisotopes Therapeutic Use Lymphatic Metastasis Male Middle Aged Pedigree Pentagastrin Thyroid Neoplasms Thyroidectomy Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject Domain (in MeSH)	Eukaryota Neoplasms Endocrine System Diseases Inorganic Chemicals Hormones, Hormone Substitutes, and Hormone Antagonists Enzymes and Coenzymes Surgical Procedures, Operative Investigative Techniques Genetic Phenomena Persons
Subject	Internal Medicine Endocrinology, Diabetes and Metabolism Endocrinology

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New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.

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