Ung thư biểu mô tuyến giáp không phải thể tủy mang tính gia đình

2019 ◽  
Author(s):  
Hòa Trần
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Carney Complex ◽  
Early Age ◽  
Susceptibility Loci ◽  
Genetic Syndromes ◽  
Medullary Thyroid ◽  
High Penetrance ◽  
Cowden’S Syndrome ◽  
Small Increments

Familial non-medullary thyroid cancer (FNMTC) comprises about 5-15% of non-medullary thyroid cancer (NMTC) is a heterogeneous of diseases including both non-syndromic and syndrom forms , Non-syndromic FNMTC tends to manifest paillary thyroid carcinoma,usually multifocal and bilateral.Several high-penetrance genes for FNMTC have been indentified but they are often confined to a few or single families and other susceptibility loci appear to play a small part ,conferring only small increments in risk . Familial susceptibility is like to be due to a combination of genetic and environmental influences . The current focus of research in FNMTC is to charactetise the susceptibility genes and their role in carcinogenesis .FNMTC can also occur as a part of multitumor genetic syndromes such as familial adenomatous polyposis ,Cowden’s syndrome, Werner’s sydrome and Carney complex . There tend to present at an early age and are multicentric and bilateral with distinct pathology . The clinical evaluaion of these patients is similar to that for most patients with a thyroid nodule. Key words: Familial non-medullary thyroid cancer (FNMTC)

scholarly journals Familial non-medullary thyroid cancer: unraveling the genetic maze

2016 ◽  
Vol 23 (12) ◽  
pp. R577-R595 ◽  
Author(s):  
Samantha Peiling Yang ◽  
Joanne Ngeow
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Werner Syndrome ◽  
Study Groups ◽  
Cowden Syndrome ◽  
Susceptibility Genes ◽  
Carney Complex ◽  
Medullary Thyroid ◽  
Functional Studies ◽  
Chromosomal Loci

Familial non-medullary thyroid cancer (FNMTC) constitutes 3–9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members. The susceptibility chromosomal loci and genes of 95% of FNMTC cases remain to be characterized. To date, 4 susceptibility genes have been identified (SRGAP1 gene (12q14), TITF-1/NKX2.1 gene (14q13), FOXE1 gene (9q22.33) and HABP2 gene (10q25.3)), out of which only the FOXE1 and the HABP2 genes have been validated by separate study groups. The causal genes located at the other 7 FNMTC-associated chromosomal loci (TCO (19q13.2), fPTC/ PRN (1q21), FTEN (8p23.1-p22), NMTC1 (2q21), MNG1 (14q32), 6q22, 8q24) have yet to be identified. Increasingly, gene regulatory mechanisms (miRNA and enhancer elements) are recognized to affect gene expression and FNMTC tumorigenesis. With newer sequencing technique, along with functional studies, there has been progress in the understanding of the genetic basis of FNMTC. In our review, we summarize the FNMTC studies to date and provide an update on the recently reported susceptibility genes including novel germline SEC23B variant in Cowden syndrome, SRGAP1 gene, FOXE1 gene and HABP2 genes in non-syndromic FNMTC.

scholarly journals Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer

Genes ◽  
2019 ◽  
Vol 10 (7) ◽  
pp. 482 ◽  
Author(s):  
Kinga Hińcza ◽  
Artur Kowalik ◽  
Aldona Kowalska
Keyword(s):  
Risk Factors ◽  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Werner Syndrome ◽  
Current Knowledge ◽  
Cowden Syndrome ◽  
Carney Complex ◽  
Thyroid Cancers ◽  
Medullary Thyroid ◽  
Hereditary Factors

The thyroid is the most common site of endocrine cancer. One type of thyroid cancer, non-medullary thyroid cancer (NMTC), develops from follicular cells and represents approximately 90% of all thyroid cancers. Approximately 5%–15% of NMTC cases are thought to be of familial origin (FNMTC), which is defined as the occurrence of the disease in three or more first-degree relatives of the patient. It is often divided into two groups: Syndrome-associated and non-syndromic. The associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex and Werner syndrome. The hereditary factors contributing to the unfavorable course of FNMTC remain poorly understood; therefore, considerable effort is being expended to identify contributing loci. Research carried out to date identifies fourteen genes (DICER1, FOXE1, PTCSC2, MYH9, SRGAP1, HABP2, BRCA1, CHEK2, ATM, RASAL1, SRRM2, XRCC1, TITF-1/NKX2.1, PTCSC3) associated with vulnerability to FNMTC that are not related to hereditary syndromes. In this review, we summarize FNMTC studies to date, and provide information on genes involved in the development of non-syndromic familial non-medullary thyroid cancers, and the significance of mutations in these genes as risk factors. Moreover, we discuss whether the genetic polymorphism rs966423 in DIRC3 has any potential as a prognostic factor of papillary thyroid cancer.

Abstract #1101 The Value of Calcitonin Calcium Stimulation Test Levels as Predictors of Medullary Thyroid Cancer.

2018 ◽  
Vol 24 ◽  
pp. 273-274
Author(s):  
Corin Badiu ◽  
Mara Baet ◽  
Ruxandra Dobrescu ◽  
Andra Caragheorgheopol ◽  
Corneci Cristina
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Stimulation Test ◽  
Medullary Thyroid ◽  
Calcium Stimulation

Immunoscintigraphy in Medullary Thyroid Cancer Using an 123I- or 111ln-Labelled Monoclonal Anti-CEA Antibody Fragment

1986 ◽  
Vol 25 (06) ◽  
pp. 227-231 ◽  
Author(s):  
Chr. Eilles ◽  
W. Spiegel ◽  
W. Becker ◽  
W. Börner ◽  
Chr. Reiners
Keyword(s):  
Bone Marrow ◽  
Thyroid Cancer ◽  
Potassium Iodide ◽  
Medullary Thyroid Cancer ◽  
Elevated Serum ◽  
Antibody Fragment ◽  
Special Importance ◽  
Medullary Thyroid ◽  
Medullary Cancer ◽  
Serum Cea

The monoclonal anti-CEA F(ab’)2 fragment MAb BW 431/31, labelled with 123I or111 In, was used for immunoscintigraphy (IS) in 9 patients with medullary cancer of the thyroid (CCC). The results of 11 studies lead to the following conclusions: 1) When using radioiodine as a label for MAb in IS, potassium iodide is absolutely necessary to block the thyroid which is of special importance in patients with thyroid cancer; 2) Preinjection of “cold” MAb reduces the relatively high unspecific uptake (especially in bone marrow) of MAb BW 431/31, which is of special importance for the antibody labelled with 111 In; 3) IS with MAb BW 413/31 in patients with CCC and elevated serum CEA is positive only in cases with large secondaries; and 4) In patients with CCC and several manifestations of secondaries, only a single (large) metastasis may be apparent.

NTRK3 receptor expression is strictly associated with medullary thyroid cancer RET mutation status

2014 ◽  
Author(s):  
Malgorzata Oczko-Wojciechowska ◽  
Michal Swierniak ◽  
Malgorzata Kowalska ◽  
Agnieszka Pawlaczek ◽  
Monika Kowal ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Receptor Expression ◽  
Mutation Status ◽  
Medullary Thyroid ◽  
Ret Mutation

Clinical usefulness of dynamic risk stratification in medullary thyroid cancer

2016 ◽  
Author(s):  
Ji Min Han ◽  
Hyemi Kwon ◽  
Won Gu Kim ◽  
Min Ji Jeon ◽  
Tae Yong Kim ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Risk Stratification ◽  
Medullary Thyroid Cancer ◽  
Clinical Usefulness ◽  
Medullary Thyroid ◽  
Dynamic Risk
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