scholarly journals The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature

2012 ◽  
Vol 56 (8) ◽  
pp. 586-591 ◽  
Author(s):  
Carla Brauner Blom ◽  
Lucieli Ceolin ◽  
Mirian Romitti ◽  
Débora Siqueira ◽  
Ana Luiza Maia
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Molecular Analysis ◽  
Hereditary Disease ◽  
C Cells ◽  
Inherited Disease ◽  
Review Of The Literature ◽  
Medullary Thyroid ◽  
Full Analysis ◽  
Characteristic Features

Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in the RET proto-oncogene are responsible for hereditary MTC and the rate of heritable disease among apparently sporadic MTC (sMTC) cases varies from 6 to 15%. RET genetic testing is now considered fundamental in MTC management but the extent of the molecular analysis required to exclude inherited disease is still controversial. While the screening of all known mutation loci is recommended by some authors, the high costs associated with a full analysis should be also taken into consideration. Here, we illustrate and discuss this controversial issue by reporting a patient who present all characteristic features of sMTC, and in whom a standard genetic analysis by restriction enzyme restriction excluded hereditary disease. Nevertheless, an extensive molecular analysis that included all codons was prompted by the diagnosis of thyroid neoplasm in a patient's sister, and identified the rare intracellular RET p.Ser891Ala mutation. Arq Bras Endocrinol Metab. 2012;56(8):586-91

Medullary thyroid carcinoma

2011 ◽  
pp. 625-630
Author(s):  
Friedhelm Raue ◽  
Karin Frank-Raue
Keyword(s):  
Sex Ratio ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Hereditary Disease ◽  
C Cells ◽  
Biochemical Screening ◽  
Medullary Thyroid ◽  
Histological Features ◽  
Sporadic Disease ◽  
Male To Female

Medullary thyroid carcinoma (MTC) is a rare calcitonin-secreting tumour of the parafollicular or C cells of the thyroid. As the C cells originate from the embryonic neural crest, MTC often have the clinical and histological features of neuroendocrine tumours. They account for 8–12% of all thyroid carcinomas and occur in both sporadic and hereditary forms (1). The majority of patients have sporadic MTC (70%), while 30% have hereditary MTC. The sex ratio in sporadic MTC is 1:1.3 (male to female), while both sexes are nearly equally affected in the familial variety (2). The highest incidence of sporadic disease occurs in the fifth decade of life, while hereditary disease can be diagnosed earlier, depending on the possibility of genetic and biochemical screening.

scholarly journals A Review of the Significance in Measuring Preoperative and Postoperative Carcinoembryonic Antigen (CEA) Values in Patients with Medullary Thyroid Carcinoma (MTC)

Medicina ◽  
2021 ◽  
Vol 57 (6) ◽  
pp. 609
Author(s):  
Ioannis Passos ◽  
Elisavet Stefanidou ◽  
Soultana Meditskou-Eythymiadou ◽  
Maria Mironidou-Tzouveleki ◽  
Vasiliki Manaki ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Carcinoembryonic Antigen ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Significance ◽  
Relevant Literature ◽  
Distant Metastases ◽  
Lymph Node Involvement ◽  
C Cells ◽  
Gastrointestinal Malignancies ◽  
Medullary Thyroid

Background and Objectives: Medullary thyroid carcinoma (MTC) accounts for 1–2% of all thyroid malignancies, and it originates from parafollicular “C” cells. Carcinoembryonic antigen (CEA) is a tumor marker, mainly for gastrointestinal malignancies. There are references in literature where elevated CEA levels may be the first finding in MTC. The aim of this study is to determine the importance of measuring preoperative and postoperative CEA values in patients with MTC and to define the clinical significance of the correlation between CEA and the origin of C cells. Materials and Methods: The existing and relevant literature was reviewed by searching for articles and specific keywords in the scientific databases of PubMedCentraland Google Scholar (till December 2020). Results: CEA has found its place, especially at the preoperative level, in the diagnostic approach of MTC. Preoperative CEA values >30 ng/mL indicate extra-thyroid disease, while CEA values >100 ng/mL are associated with lymph node involvement and distant metastases. The increase in CEA values preoperatively is associated with larger size of primary tumor, presence of lymph nodes, distant metastases and a poorer prognosis. The clinical significance of CEA values for the surgeon is the optimal planning of surgical treatment. In the recent literature, C cells seem to originate from the endoderm of the primitive anterior gut at the ultimobranchial bodies’ level. Conclusions: Although CEA is not a specific biomarker of the disease in MTC, itsmeasurement is useful in assessing the progression of the disease. The embryonic origin of C cells could explain the increased CEA values in MTC.

Expression of laminin-2 by normal and neoplastic rat C cells during the development of medullary thyroid carcinoma

1999 ◽  
Vol 434 (4) ◽  
pp. 325-332 ◽  
Author(s):  
Fatima Lekmine ◽  
Hélène Feracci ◽  
Gérard Milhaud ◽  
Françoise Treilhou-Lahille ◽  
N. Jeanne
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
C Cells ◽  
Medullary Thyroid

scholarly journals Medullary thyroid carcinoma: recent advances in identification, treatment, and prognosis

2021 ◽  
Vol 12 ◽  
pp. 204201882110496
Author(s):  
Marisa A. Bartz-Kurycki ◽  
Omowunmi E. Oluwo ◽  
Lilah F. Morris-Wiseman
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Distant Metastases ◽  
Hereditary Disease ◽  
Patient Specific ◽  
Medullary Thyroid ◽  
Recent Advances ◽  
Initial Surgery ◽  
Biochemical Testing ◽  
Thyroid Malignancies

Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor that represents <5% of all thyroid malignancies and is generally more aggressive than differentiated thyroid cancer. The aim of this study is to provide an update, through review of clinical studies of patients with MTC published between January 1, 2016, and June 1, 2021, on recent advances in the diagnosis and treatment of MTC. This review focuses on updates in biochemical testing, imaging, hereditary disease, surgical management, adjuvant therapies, and prognosis. Recent advances reviewed herein have sought to diagnose MTC at earlier stages of disease, predict when patients with a hereditary syndrome may develop MTC, use functional imaging to assess for distant metastases, perform optimal initial surgery with appropriate lymphadenectomy, employ targeted systemic therapies for patients with progressive metastatic disease, and better predict patient-specific outcomes.

scholarly journals Expression and role of estrogen receptor α and β in medullary thyroid carcinoma: different roles in cancer growth and apoptosis

2007 ◽  
Vol 195 (2) ◽  
pp. 255-263 ◽  
Author(s):  
Mi Ae Cho ◽  
Mi Kyung Lee ◽  
Kee-Hyun Nam ◽  
Woung Youn Chung ◽  
Cheong Soo Park ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Tumor Staging ◽  
Estrogen Receptor Α ◽  
C Cells ◽  
Tissue Samples ◽  
Medullary Thyroid ◽  
Tt Cells

Medullary thyroid carcinoma (MTC) originates from parafollicular C cells. Estrogen receptor β(ERβ) expressionwas detected in normal parafollicular C cells and MTC tumor tissue, but ERα expression in MTC tumors still remains undetermined. The appearance and loss of ERα or ERβ expression has been known to play a role in the development and progression of many human cancers. We performed immunohistochemical studies of ERα, ERβ, and Ki67, a mitotic index, in 11 human MTC tissue samples. ERα was detected in 10 cases (91%), and ERβ expression was observed in 8 cases (72.7%). A majority (8/10) of ERα-positive tumors showing ERβ Ki67 expression was detected in three cases (27.3%). Neither clinical parameters nor tumor node metastasis (TNM) tumor staging was correlated with the positivity for ERs or Ki67. To investigate the biological role of each ER, we used ER-negative MTC TT cells and adenoviral vectors carrying ERα (Ad-ERα), ERβ (Ad-ERβ), estrogen response element (ERE)-Luc (Ad-ERE-Luc), and activator protein 1 (AP1)-Luc (Ad-AP1-Luc). Estrogen stimulated and anti-estrogen, ICI 182 780, suppressed ERE reporter activity in TT cells expressing ERα or ERβ, suggesting that both ERs use the same classical ERE-mediated pathway. Ad-ERα infection stimulated TT cell growth; in contrast, Ad-ERβ infection suppressed their growth. Apoptosis was detected in Ad-ERβ-infected TT cells. Estrogen and anti-estrogen suppressed AP1 activity in Ad-ERα-infected cells, whereas upon Ad-ERβ infection estrogen further stimulated AP1 activity which in turn is suppressed by anti-estrogen, suggesting that each ER acts differently through a non-ERE-mediated pathway. Our results suggest that ERα and ERβ may play different roles in MTC tumor growth and progression.

scholarly journals Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets

2009 ◽  
Vol 43 (4) ◽  
pp. 143-155 ◽  
Author(s):  
Aniello Cerrato ◽  
Valentina De Falco ◽  
Massimo Santoro
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Therapeutic Targets ◽  
C Cells ◽  
Rare Tumour ◽  
Medullary Thyroid ◽  
Early Evidence ◽  
Molecular Therapeutic ◽  
Molecular Therapeutic Targets ◽  
Novel Therapeutic

Medullary thyroid carcinoma (MTC) is a rare tumour arising from neural crest-derived parafollicular C-cells. Metastatic MTC patients are incurable because the cancer does not respond to radiotherapy or chemotherapy. The REarranged during Transfection (RET) proto-oncogene plays a key role in the development of MTC. However, one-half of the sporadic MTC do not carry RET mutations. Mice models and early evidence obtained in human samples suggest that other genes, including those encoding components of the RB1 (retinoblastoma) and TP53 tumour-suppressor pathways, may be involved in MTC formation. Here, we review the data on the involvement of genes acting in the RET and RB1/TP53 pathways in MTC. Understanding genetic lesions that occur in MTC is a prerequisite to identifying molecular therapeutic targets in MTC and in improving the efficacy of RET-targeted therapies.

Establishment of a continuous somatostatin-producing line of medullary thyroid carcinoma cells from BALB/c mice

1986 ◽  
Vol 110 (2) ◽  
pp. 309-NP ◽  
Author(s):  
A. S. Tischler ◽  
Y. C. Lee ◽  
D. Costopoulos ◽  
G. Nunnemacher ◽  
R. A. DeLellis ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Cell Biology ◽  
Culture Medium ◽  
Carcinoma Cells ◽  
C Cells ◽  
Medullary Thyroid ◽  
Transplantable Tumour ◽  
Somatostatin Immunoreactivity ◽  
Somatostatin 14

ABSTRACT A continuous line of somatostatin-producing medullary thyroid carcinoma cells was established from a transplantable tumour in BALB/c mice. Virtually all of the somatostatin immunoreactivity co-chromatographed with somatostatin 14. The tumour cells replicated in spinner cultures with a doubling time of approximately 4 days, and the concentration of somatostatin released into the culture medium increased in proportion to the number of cells. Two-to threefold increases in amounts of stored and released somatostatin were observed after treatment of the cells with bromodeoxyuridine. This cell line might be valuable for studies of somatostatin regulation in normal and neoplastic C-cells, and for other studies of C-cell biology which require a mouse model. J. Endocr. (1986) 110, 309–313

scholarly journals Medullary thyroid carcinoma and pregnancy

2021 ◽  
Vol 16 (S3) ◽  
pp. 6-9
Author(s):  
Andreea Elena DUMITRU ◽  
◽  
Corina GICĂ ◽  
Anca Marina CIOBANU ◽  
Brînduşa Ana CIMPOCA-RAPTIS ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Relevant Information ◽  
Needle Aspiration ◽  
Hereditary Disease ◽  
Thyroid Tumor ◽  
Medullary Thyroid ◽  
Ultrasound Evaluation ◽  
Regional Metastases

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor of the parafollicular cells of the thyroid gland. The tumor occurs, either sporadically or in a hereditary form, as a component of the type 2 multiple endocrine neoplasia (MEN) syndromes, MEN2A and MEN2B, both with an autosomal dominant transmission. Due to its higher aggressiveness and urgency to treat, it poses a challenge when diagnosed during pregnancy. We performed a literature review searching medical databases as UpToDate and PubMed for relevant information about diagnosis, impact, treatment, and outcome of medullary thyroid carcinoma during pregnancy. Diagnosis of MTC is established by clinical and ultrasound evaluation, followed by a fine needle aspiration biopsy. Further analyses decide whether it is a sporadic or a hereditary disease. Surgery offers the curative solution, but careful postoperative follow-up is needed for the best outcome. The decision for surgery is taken considering the DNA mutation of RET oncogene and pregnancy status. A premature planned delivery is associated with potential complications for the newborn, but it is recommended when maternal status worsens. Conclusions. Complete resection of the thyroid tumor and any local and regional metastases is the only curative solution. Timing of the intervention is extremely important to decrease fetal outcomes. Close follow-up during the postoperative period, by both biochemical and imaging methods, is needed.

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