Abstract
Medullary thyroid carcinomas (MTC) occur sporadically or as part of inherited multiple endocrine neoplasia (MEN) type 2 syndromes. To recognize misdiagnosed familial cases and to establish the frequency of somatic mutations, a series of 50 patients, clinically diagnosed with sporadic MTC, were analyzed for mutations in the RET proto-oncogene. The clinical management of the patient and of the family is different in the two cases. Germline mutations were detected in three independent cases, demonstrating that they were associated to familial MTC. The mutations affected exon 11 in two cases and exon 14 in one case. Somatic mutations were detected in eight patients (30%) and they were indicative of sporadic MTC. In seven cases the mutation affected codon 918 of exon 16 and in one case codon 634 in exon 11. No RET mutations were detected in the remaining patients. A different genetic and clinical management is proposed for individuals with a diagnosis of familial or sporadic MTC.
| Original language | English |
|---|---|
| Pages (from-to) | 51-57 |
| Number of pages | 7 |
| Journal | Molecular and Cellular Endocrinology |
| Volume | 137 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Feb 13 1998 |
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Keywords
- FMTC
- MEN 2A
- RET proto-oncogene mutations
- Sporadic medullary thyroid carcinoma
ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
Germline and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas. / Scurini, Carmen; Quadro, Loredana; Fattoruso, Olimpia; Verga, Uberta; Libroia, Alfonso; Lupoli, Giovanni; Cascone, Edvige; Marzano, Luigi; Paracchi, Sandra; Busnardo, Benedetto; Girelli, Maria Elisa; Bellastella, Antonio; Colantuoni, Vittorio.
In: Molecular and Cellular Endocrinology, Vol. 137, No. 1, 13.02.1998, p. 51-57.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Germline and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas
AU - Scurini, Carmen
AU - Quadro, Loredana
AU - Fattoruso, Olimpia
AU - Verga, Uberta
AU - Libroia, Alfonso
AU - Lupoli, Giovanni
AU - Cascone, Edvige
AU - Marzano, Luigi
AU - Paracchi, Sandra
AU - Busnardo, Benedetto
AU - Girelli, Maria Elisa
AU - Bellastella, Antonio
AU - Colantuoni, Vittorio
PY - 1998/2/13
Y1 - 1998/2/13
N2 - Medullary thyroid carcinomas (MTC) occur sporadically or as part of inherited multiple endocrine neoplasia (MEN) type 2 syndromes. To recognize misdiagnosed familial cases and to establish the frequency of somatic mutations, a series of 50 patients, clinically diagnosed with sporadic MTC, were analyzed for mutations in the RET proto-oncogene. The clinical management of the patient and of the family is different in the two cases. Germline mutations were detected in three independent cases, demonstrating that they were associated to familial MTC. The mutations affected exon 11 in two cases and exon 14 in one case. Somatic mutations were detected in eight patients (30%) and they were indicative of sporadic MTC. In seven cases the mutation affected codon 918 of exon 16 and in one case codon 634 in exon 11. No RET mutations were detected in the remaining patients. A different genetic and clinical management is proposed for individuals with a diagnosis of familial or sporadic MTC.
AB - Medullary thyroid carcinomas (MTC) occur sporadically or as part of inherited multiple endocrine neoplasia (MEN) type 2 syndromes. To recognize misdiagnosed familial cases and to establish the frequency of somatic mutations, a series of 50 patients, clinically diagnosed with sporadic MTC, were analyzed for mutations in the RET proto-oncogene. The clinical management of the patient and of the family is different in the two cases. Germline mutations were detected in three independent cases, demonstrating that they were associated to familial MTC. The mutations affected exon 11 in two cases and exon 14 in one case. Somatic mutations were detected in eight patients (30%) and they were indicative of sporadic MTC. In seven cases the mutation affected codon 918 of exon 16 and in one case codon 634 in exon 11. No RET mutations were detected in the remaining patients. A different genetic and clinical management is proposed for individuals with a diagnosis of familial or sporadic MTC.
KW - FMTC
KW - MEN 2A
KW - RET proto-oncogene mutations
KW - Sporadic medullary thyroid carcinoma
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UR - http://www.scopus.com/inward/citedby.url?scp=0032512688&partnerID=8YFLogxK
U2 - 10.1016/S0303-7207(97)00234-7
DO - 10.1016/S0303-7207(97)00234-7
M3 - Article
VL - 137
SP - 51
EP - 57
JO - Molecular and Cellular Endocrinology
JF - Molecular and Cellular Endocrinology
SN - 0303-7207
IS - 1
ER -