scholarly journals Sporadic and familial types of medullary thyroid carcinoma

2003 ◽  
Vol 49 (5) ◽  
pp. 45-47
Author(s):  
A. A. Ilyin ◽  
P. O. Rumyantsev ◽  
P. A. Isayev ◽  
V. S. Medvedev ◽  
B. M. Vtyurin ◽  
...  

This article focuses on sporadic and familial variants of medullary thyroid cancer.

2015 ◽  
Vol 81 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Faris K. Azar ◽  
Stephanie L. Lee ◽  
Jennifer E. Rosen

Medullary thyroid carcinoma is uncommon but accounts for approximately 4 to 5 per cent of all thyroid cancers. Although most cases are sporadic, close to one-fourth of cases result from germline mutations in the RET proto-oncogene. These mutations are clinically important because they predict the earliest age of medullary thyroid cancer diagnosis and clinical aggressiveness, which guide individualized management. This review covers the presentation, diagnosis, workup, current management, and future directions of the management of medullary thyroid carcinoma. Today's chance for cure depends on early and appropriate surgical resection. Further investigation of the cellular signaling pathways shown to be essential for the growth and spread of medullary thyroid carcinoma remains an active field with hope for providing targeted systemic therapy for patients with progressive disease.


2017 ◽  
Vol 8 (5) ◽  
pp. 5-11
Author(s):  
Zoya S. Matveeva ◽  
Anatoliy F. Romanchishen ◽  
Alexandr V. Gostimsky ◽  
Kristina V. Vabalayte

The article presents results of diagnostics, surgical treatment and follow-up of patients with rare hereditary-conditioned forms of thyroid cancer – medullary thyroid carcinoma in content of multiple endocrine neoplasia syndrome. Particular attention is paid to the examination and tactics of treatment of children and adolescents with family genetically confirmed Sipple syndrome. The disease is diagnosed in 4 families. Syndrome of multiple endocrine neoplasia 2a type we found in 7 (0.024%) of 29,325 children and adult patients. All the children were from families in which one of the blood relatives suffered medullary thyroid cancer. The family nature of the disease was confirmed by molecular genetic studies that revealed mutations in C634 (T1900C) in the 11 exon of the RET gene. Only in 3 out of 7 cases thyroidectomy was prophylactic. Four children were fond foci of medullary carcinoma in the removed thyroid gland. In total, 22 operations were performed for the members of 4 families suffering from the family syndrome MEN-2a. The article shows that if a patient is diagnosed Sippl's syndrome, all his blood relatives need to be checked for the mutation of the RET gene to identify familial medullary thyroid cancer, adenomas of parathyroid glands and pheochromocytomas. Early removal of the thyroid gland (in children under the age of 5 years) prevents medullary cancer, and timely diagnosis and adequate surgical removal of neoplasms of parathyroid glands and adrenal glands ensure recovery of the patients. Closest relatives should be checked for the level of calcium and calcitonin, catecholamines, vanillylmandelic acid and metanephrine, ACTH, cancer-embryonic antigen.


2020 ◽  
Vol 20 (2) ◽  
pp. 295-302
Author(s):  
Anna De Tullio ◽  
Giuseppe Lisco ◽  
Loren Duda ◽  
Giuseppina Renzulli ◽  
Vincenzo Triggiani

Introduction: Medullary thyroid carcinoma (MTC) is an infrequent thyroid malignancy rarely observed and managed during pregnancy. An accurate diagnostic workup is extremely important in this clinical setting to correctly diagnose and treat the disease, avoiding both maternal and fetal complications. Objective: We report our experience in managing an MTC incidentally diagnosed during pregnancy in a 28-year female, highlighting critical aspects through the diagnostic workup. Additionally, we provide a literature revision searching on PubMed terms related to “medullary thyroid carcinoma”, “primary thyroid paraganglioma”, “paraganglioma-like medullary thyroid cancer” in relationship with a nodular appearance at neck US, serum CT measurement, cytological and histological findings. Methods: Specimens for cytological evaluation were stained with the Papanicolaou method while tissue sections were stained with hematoxylin and eosin and Congo red stain. Immunohistochemical evaluation was also performed for thyroid transcription factor-1, enolase, thyroglobulin, cytokeratin, chromogranin A, S-100 protein, glial fibrillary acidic protein, calcitonin and Ki-67. Results: Serum CT was incidentally found to be elevated in two consecutive venous samples. However, the cytological assessment of the fine needle aspiration (FNAc) showed “cells with round-shaped nuclei and granular chromatin, organized to form nests or syncytial flaps, scattered among histocytes, and immunocytochemical positivity for CT, thyroid transcriptional factor-1, cytokeratin, S-100 protein”, highlighting a suspicion of both MTC and intrathyroidal paraganglioma. MTC was finally supposed after the evidence of a really elevated CT (3,726 pg/ml) measurement in the FNA washout fluid. After a careful discussion about both risks and benefits, the patient decided to postpone the surgery after the delivery. Conclusion: The histological diagnosis finally confirmed a rare case of paraganglioma-like MTC (T1 N0 Mx), emphasizing the complexity of our differential diagnosis, between an MTC and a thyroidal paraganglioma. In similar cases, due to a relevant impact on surgical timing, patients should be adequately informed about both risk and benefits of the surgery during pregnancy, and a careful management of the disease is required until and after surgery.


2009 ◽  
Vol 95 (4) ◽  
pp. 484-487 ◽  
Author(s):  
Claudia Misso ◽  
Filippo Calzolari ◽  
Efisio Puxeddu ◽  
Roberta Lucchini ◽  
Massimo Monacelli ◽  
...  

Medullary thyroid carcinoma is a highly malignant and progressive disease. Surgery is the only effective treatment. Calcitonin is a significant marker for medullary thyroid carcinoma, and due to its sensitivity it represents a useful tool for the follow-up. The outcome of patients affected by medullary thyroid carcinoma depends on tumor size, lymph node involvement, and adequacy of primary surgical management. In the present study, the authors reviewed their own experience in the cure of medullary thyroid carcinoma. Forty-one patients operated for sporadic medullary thyroid carcinoma were included. Indications for surgery, inclusive of lymphectomy techniques, timing of redo surgery, and the meaning of calcitonin levels in highlighting disease are extensively discussed. Patients with elevated calcitonin levels and favorable outcome are considered, together with the various diagnostic tools to be employed during patient workup.


2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Nina Ventura ◽  
Edson Marchiori ◽  
Gláucia Zanetti ◽  
Antonio Muccillo ◽  
Mariana Leite Pereira ◽  
...  

Medullary thyroid carcinoma is a rare malignancy that arises from calcitonin-producing C-cells and frequently metastasizes to lymph nodes in the neck. Distant metastases may involve bone, lung, and liver. The infrequent number of cases limits the clinical nature and ability to optimize diagnostic tools. Here, we present a case of a micronodular radiographic pattern in metastatic medullary thyroid cancer in order to enhance awareness of the disease process. A case discussion and relevant review of the literature are provided.


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