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RET proto-oncogene mutation in a mixed medullary-follicular thyroid carcinoma.

作者信息

Orlandi F, Chiefari E, Caraci P, Mussa A, Gonzatto I, De Giuli P, Giuffrida D, Angeli A, Filetti S

机构信息

Department of Clinical and Biological Sciences, University of Torino, Italy.

出版信息

J Endocrinol Invest. 2001 Jan;24(1):51-5. doi: 10.1007/BF03343809.

DOI:10.1007/BF03343809
PMID:11227733
Abstract

A case of a patient with an uncommon thyroid carcinoma, showing histological and immunohistochemical features of both follicular and parafollicular cells is described. Somatic point mutation (ATG to ACG heterozygotic mutation at codon 918) of the RET proto-oncogene was detected in tumor tissue, as confirmed by immunohistochemical expression of RET oncoprotein. Our findings suggest that constitutive RET proto-oncogene activation may be involved in the development of mixed medullary-follicular thyroid carcinoma.

摘要

相似文献

1
RET proto-oncogene mutation in a mixed medullary-follicular thyroid carcinoma.
J Endocrinol Invest. 2001 Jan;24(1):51-5. doi: 10.1007/BF03343809.
2
Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain.散发性甲状腺髓样癌患者RET原癌基因的分子分析：细胞外富含半胱氨酸结构域中的一种新型点突变。
Eur J Endocrinol. 1997 Apr;136(4):423-6. doi: 10.1530/eje.0.1360423.
3
A single missense mutation in codon 918 of the RET proto-oncogene in sporadic medullary thyroid carcinomas.散发性甲状腺髓样癌中RET原癌基因第918密码子的单个错义突变。
Endocr J. 1995 Apr;42(2):245-50. doi: 10.1507/endocrj.42.245.
4
Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma.散发性甲状腺髓样癌患者RET原癌基因中一种新型体细胞突变的鉴定。
Hum Mutat. 1997;9(5):476. doi: 10.1002/(SICI)1098-1004(1997)9:5<476::AID-HUMU20>3.0.CO;2-Z.
5
The RET proto-oncogene in medullary and papillary thyroid carcinoma. Molecular features, pathophysiology and clinical implications.甲状腺髓样癌和乳头状癌中的RET原癌基因。分子特征、病理生理学及临床意义。
Virchows Arch. 1997 Jul;431(1):1-9. doi: 10.1007/s004280050062.
6
The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma.RET 点突变对甲状腺滤泡细胞的致癌活性可能是家族性甲状腺髓样癌患者发生甲状腺乳头状癌的原因。
Am J Pathol. 2004 Aug;165(2):511-21. doi: 10.1016/S0002-9440(10)63316-0.
7
Point mutation of the RET proto-oncogene in the TT human medullary thyroid carcinoma cell line.TT人甲状腺髓样癌细胞系中RET原癌基因的点突变。
Biochem Biophys Res Commun. 1995 Feb 27;207(3):1022-8. doi: 10.1006/bbrc.1995.1287.
8
A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation.在伴有种系密码子768突变的家族性甲状腺髓样癌中RET原癌基因的一种新型体细胞突变。
Jpn J Cancer Res. 1997 Jun;88(6):527-31. doi: 10.1111/j.1349-7006.1997.tb00414.x.
9
Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence.散发性甲状腺髓样癌中ret原癌基因的体细胞突变并不局限于第16外显子，且与肿瘤复发相关。
J Clin Endocrinol Metab. 1996 Apr;81(4):1619-22. doi: 10.1210/jcem.81.4.8636377.
10
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.在两个患有家族性甲状腺髓样癌的家族中，RET原癌基因第14外显子804密码子处发生了一个从GTG到ATG的新型点突变。
Hum Mutat. 1998;Suppl 1:S167-71. doi: 10.1002/humu.1380110156.

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Surg Case Rep. 2024 Apr 22;10(1):92. doi: 10.1186/s40792-024-01898-7.
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Goblet cell carcinoids and other mixed neuroendocrine/nonneuroendocrine neoplasms.杯状细胞类癌及其他混合性神经内分泌/非神经内分泌肿瘤。
Virchows Arch. 2007 Aug;451 Suppl 1:S61-9. doi: 10.1007/s00428-007-0447-y. Epub 2007 Aug 8.
3
The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma.

本文引用的文献

1
Molecular mechanisms of RET activation in human neoplasia.人类肿瘤中RET激活的分子机制。
J Endocrinol Invest. 1999 Nov;22(10):811-9. doi: 10.1007/BF03343650.
2
Mixed medullary-follicular thyroid carcinoma. Molecular evidence for a dual origin of tumor components.混合性髓样-滤泡性甲状腺癌。肿瘤成分双重起源的分子证据。
Am J Pathol. 1999 Nov;155(5):1499-509. doi: 10.1016/S0002-9440(10)65465-X.
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Current diagnosis and management of medullary thyroid carcinoma.甲状腺髓样癌的当前诊断与管理
RET 点突变对甲状腺滤泡细胞的致癌活性可能是家族性甲状腺髓样癌患者发生甲状腺乳头状癌的原因。
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Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma.MEN 2A、MEN 2B、家族性或散发性甲状腺髓样癌患者RET原癌基因异常分析。
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Mixed medullary-follicular carcinoma of the thyroid. A morphological, immunohistochemical and in situ hybridization analysis of 11 cases.甲状腺混合性髓样-滤泡状癌。11例病例的形态学、免疫组织化学及原位杂交分析
Virchows Arch. 1997 May;430(5):397-405. doi: 10.1007/s004280050049.
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The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.2型多发性内分泌腺瘤病中特定RET原癌基因突变与疾病表型的关系。国际RET突变联盟分析。
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Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
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8
Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence.散发性甲状腺髓样癌中ret原癌基因的体细胞突变并不局限于第16外显子，且与肿瘤复发相关。
J Clin Endocrinol Metab. 1996 Apr;81(4):1619-22. doi: 10.1210/jcem.81.4.8636377.
9
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.RET原癌基因点突变分析可区分遗传性与非遗传性甲状腺髓样癌。
Cancer. 1995 Aug 1;76(3):479-89. doi: 10.1002/1097-0142(19950801)76:3<479::aid-cncr2820760319>3.0.co;2-m.
10
Concurrent medullary and papillary carcinomas of thyroid with lymph node metastases. A collision phenomenon.甲状腺髓样癌与乳头状癌并存伴淋巴结转移。一种碰撞现象。
Am J Surg Pathol. 1996 Feb;20(2):245-50. doi: 10.1097/00000478-199602000-00014.