Diagnosis Of Medullary Thyroid Carcinoma Research Articles

Results of Surgical Therapy in Patients with Medullary Thyroid Carcinoma.

Medullary thyroid carcinoma (MTC) is a rare form of malignancy, having an intermediate prognosis. Controversies exist regarding the best surgical approach. The aim of the study was to analyze the outcome in a group of patients with MTC, diagnosed and followed up in a single care center. We performed a retrospective analysis of all the patients diagnosed with MTC in the Department of Endocrinology from the County Emergency Hospital Timisoara between 1992 and 2012. The study group included 19 patients, 6 men (31.6%), mean age 41.2 ± 12.5years (20-72years). The preoperative diagnosis was based on the protocol for nodular thyroid disease. Total or near-total thyroidectomy was performed in 10 out of 16 patients who could be operated. Postoperative follow-up included repeated measurements of serum calcitonin and imaging investigations. Nine out of the total of 19 (47.3%) patients had hereditary forms of MTC. Most of the cases (84.2%) were submitted to surgery. The median duration of follow-up was 84months. The pTNM staging indicated that the majority of the patients with hereditary MTC were diagnosed in an earlier stage. Disease remission was achieved in 7 cases (43.8%). Four patients, all with sporadic forms, died. Survival rates at 1, 5 and 10years were significantly higher (p = 0.048) in patients with hereditary MTC. An early diagnosis of MTC allows a better surgical approach and an improved survival rate. We support the general recommendation that modified radical neck dissection is not necessary for all the patients with MTC.

Medullary Thyroid Carcinoma--Circulating Status of Vaspin and Retinol Binding Protein-4 in Iranian Patients.

Vaspin and Retinol binding protein-4 (RBP4) are new adipokines mainly produced by adipose tissue. Considering that medullary thyroid carcinoma (MTC) is a malignant neuroendocrine tumor, and to date the relationship between serum levels of vaspin and RBP4 with MTC has not been studied, in this matched case-control study we evaluated their possible significance to this tumor type. A total of 45 patients with MTC (21 males and 24 females) and 45 healthy persons as a control group (24 males and 21 females) were selected. The two groups were matched for age, sex and body mass index. Serum Vaspin and RBP4 levels were measured by enzyme-linked immunosorbent assay (ELISA) methods in both groups. Also, weight and height were measured and body mass index was calculated too. In total, patients with MTC had significantly higher serum vaspin levels compared to the controls (0.52 ng/ml vs. 0.45 ng/ml, P=0.0241). However, no significant difference was found in serum RBP4 concentrations between the patients with MTC and the controls (15.2±2.55 μg/ml versus 15.1±3.34 μg/ml, p>0.05). The results of this study demonstrated that serum RBP4 levels in MTC patients are not significantly different from those found in healthy individuals and did not correlate with MTC. On the other hand, higher levels of serum vaspin are associated with an increased risk of MTC. Thus Vaspin may be a novel and promising biomarker for diagnosis or confirmation of MTC in conjunction other specific tumor markers.

Fifteen-year treatment of metastatic thyroid medullary carcinoma: a case report

Although very rare, medullary thyroid carcinoma (MTC) is the most aggressive in differentiated thyroid malignancies. We report a 48-year-old male patient with the diagnosis of MTC, who was monitored for fifteen years and showed no serious adverse events due to long-term chemotherapy. Total thyroidectomy, neck dissection, retrosternal nodule excision and pericardiectomy were performed, and radiotherapy was applied to the neck area. Due to progressive metastatic disease cyclophosphamide, dacarbazine, and vincristine were administrated. He tolerated chemotherapy well, and no severe systemic side effects were detected. He died due to multi-organ failure after fifteen years of diagnosis. The only curative treatment is surgery in MTC, however; radiotherapy, chemotherapy, and embolization may be used for patients for whom surgery cannot be performed. Although success rates of systemic chemotherapy are low, it is a treatment option in the progressive metastatic disease.

An Elderly Patient With Prostate Cancer and Colon Cancer 10 Years After a Diagnosis of Medullary Thyroid Carcinoma

Medullary thyroid carcinomas (MTC) are rare tumors that account for approximately 5-10% of all thyroid malignancy in the West. The reported incidence of MTC is less than 5% in Korea. Its prognosis is relatively good with a 15-year survival rate of 64-84%. The incidence of thyroid cancer has been increasing rapidly worldwide and the overall survival of patients with thyroid cancer is excellent. The occurrence of second primary malignancy (SPM) among survivors of thyroid cancer is a concern, together with life expectancy. Recent studies reported a 6-45% increase in the risk of developing SPM after the diagnosis thyroid cancer. We reported a patient with prostate and colon cancer that were diagnosed 10 years after the diagnosis of medullary thyroid carcinoma.

Procalcitonin for detecting medullary thyroid carcinoma: a systematic review.

The aim of the present study was to perform a systematic review of published studies to provide a robust estimation of the use of procalcitonin (ProCT) as a diagnostic marker of medullary thyroid carcinoma (MTC), with particular focus on its specificity and negative predictive value in excluding MTC. A comprehensive computer literature search was conducted to find relevant published articles on the topic. We used a search algorithm based on a combination of the terms 'medullary,' 'thyroid,' and 'ProCT.' The search was updated until February 2015. To expand our search, references of the retrieved articles were also screened. A total of 39 articles were retrieved, of which nine original papers published from 2003 to 2014 were selected for the review. Some of these studies used ProCT in the preoperative diagnosis of MTC, whereas others measured ProCT during the follow-up of patients who had been previously treated for MTC. Other laboratory measurements were performed in some of the included studies. The results of the majority of the studies indicate that ProCT measurement appears to be a very promising and reliable serum marker for the diagnosis of MTC, and it is not inferior to calcitonin (CT). The sample handling is less laborious, and in the few CT-negative cases reviewed, the assay had even greater sensitivity. It would be worthwhile to establish cutoff levels using larger patient series, because we speculate that this assay could potentially replace CT measurement in the future.

Evaluation of routine basal serum calcitonin measurement for an early diagnosis of medullary thyroid carcinoma

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

The Role of Core Needle Biopsy and Its Impact on Surgical Management in Patients with Medullary Thyroid Cancer: Clinical Experience at 3 Medical Institutions.

Medullary thyroid carcinoma is an uncommon malignancy that is challenging to diagnose. Our aim was to present our experience using core needle biopsy for the diagnosis of medullary thyroid carcinoma compared with fine-needle aspiration. Between January 2000 and March 2012, 202 thyroid nodules in 191 patients were diagnosed as medullary thyroid cancer by using sonography-guided fine-needle aspiration, core needle biopsy, or surgery. One hundred eighty-three thyroid nodules in 172 patients were included on the basis of the final diagnosis. We evaluated the sensitivity and positive predictive value of fine-needle aspiration and core needle biopsy for the diagnosis of medullary thyroid cancer. We compared the rate of a delayed diagnosis, a diagnostic surgery, and surgery with an incorrect diagnosis for fine-needle aspiration and core needle biopsy and investigated the factors related to the fine-needle aspiration misdiagnosis of medullary thyroid cancer. Fine-needle aspiration showed 43.8% sensitivity and 85.1% positive predictive value for the diagnosis of medullary thyroid cancer; 25.7% (44/171) of patients had a delayed diagnosis, while 18.7% (32/171) underwent an operation for accurate diagnosis, and 20.5% (35/171) underwent an operation with an incorrect diagnosis. Core needle biopsy achieved 100% sensitivity and positive predictive value without a delay in diagnosis (0/22), the need for a diagnostic operation (0/22), or an operation for an incorrect diagnosis (0/22). A calcitonin level of <100 pg/mL was the only significant factor for predicting the fine-needle aspiration misdiagnosis of medullary thyroid cancer (P = .034). Core needle biopsy showed a superior sensitivity and positive predictive value to fine-needle aspiration and could optimize the surgical management in patients with medullary thyroid cancer. Because the ability of fine-needle aspiration to diagnose medullary thyroid cancer significantly decreases in patients with serum calcitonin levels of <100 pg/mL, core needle biopsy could be indicated for these patients to optimize their surgical management.

Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma.

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from the thyroid C cells producing mainly calcitonin (CTN) used as tumor marker. MTC occurs either sporadic (75%) or in a hereditary form (multiple endocrine neoplasia type 2, MEN2), due to germline mutations in the RET proto-oncogene. The discovery of an MTC in a patient has several diagnostic implications involving a specific strategy: preoperative evaluation of the tumor marker CTN and the extent of the disease, classification of MTC as sporadic or hereditary by DNA testing, and screening for associated endocrinopathies in hereditary MTC. Elevated CTN is a highly sensitive and specific tumor marker for diagnosis and follow-up of MTC. CTN is directly related to the tumor mass. In patients with nodular thyroid disease, diagnosis of MTC could be made by CTN determination as an indicator of tumor burden in conjunction with fine-needle aspiration. Patients with confirmed sporadic or hereditary MTC should have a total thyroidectomy and depending on the preoperative CTN value and the extent of disease additional dissection of the lymph nodes in the central and lateral neck compartment. In MEN 2 patients diagnosed by screening, the time of prophylactic thyroidectomy depends on RET mutation and CTN level.

A Case of C-Cell Hyperplasia in an Asymptomatic V804M Ret Mutation Carrier: Can the Calcium Infusion Test Predict C-Cell Hyperplasia?

ABSTRACT Objective: Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma (MTC) are autosomal dominant inherited diseases caused by genetic mutations of the RET proto-oncogene. Prophylactic total thyroidectomy in carriers of activating RET proto-oncogenes, depending on mutation-based risk level, is recommended in the United States and many other countries. Measurement of calcitonin following stimulation with intravenous calcium gluconate has been widely adopted as a screening test for MTC. Methods: Here, we describe a carrier of the RET V804M mutation in whom total thyroidectomy was performed at age 54 years after a calcium infusion test with the only available insurance-reimbursable calcitonin assay (an earlier generation calcitonin assay than currently reported) was employed. The case's older brother, who was also a RET V804M mutation carrier, was diagnosed with MTC at the age of 60 years, and his mother died of thyroid cancer with systemic metastases at the age of 76 years. Results: During the calcium infusion test, the patient's serum calcitonin level increased from 40 to 161 pg/mL, a test result considered positive by the calcitonin assay specifications. C-cell hyperplasia, but not MTC, was noted in 2 of 11 thyroid tissue sections. Conclusion: Although data from a more recent calcitonin assay and further information regarding the patient's mother's thyroid cancer would have been ideal, the present report adds to the literature regarding the clinical impact of the RET V804M mutation and the lack of specificity of older calcitonin assays for the diagnosis of MTC. Abbreviations: MEN multiple endocrine neoplasia MTC medullary thyroid carcinoma RET rearranged during transfection

Role of Fine Needle Aspiration Cytology (FNA) and Core Biopsy (CBx) in the Presurgical Diagnosis of Medullary Thyroid Carcinoma (MTC): Fifteen Years of Experience in a Cancer Center (CC)

Role of Fine Needle Aspiration Cytology (FNA) and Core Biopsy (CBx) in the Presurgical Diagnosis of Medullary Thyroid Carcinoma (MTC): Fifteen Years of Experience in a Cancer Center (CC)

Thyroid surgery in children and adolescents: A series of 65 cases

ObjectivesTo describe the specificities and complications of thyroid surgery in children and adolescents. Material and methodsThis retrospective study was based on 64 patients under the age of 18 who underwent thyroid surgery between January 2004 and March 2012, with two operations in one case. The following data were analysed: anatomical variants of the recurrent laryngeal nerve, postoperative recurrent laryngeal nerve paralysis rate, postoperative hypoparathyroidism rate, and histological results. ResultsTwo cases of right non-recurrent inferior laryngeal nerve were observed (2.2% of the 93 recurrent laryngeal nerves dissected). One case of persistent left recurrent laryngeal nerve paralysis was observed (1.1%) despite intraoperative recurrent laryngeal nerve monitoring. Eight cases of immediate postoperative hypocalcaemia were observed (23.5% of the 34 total thyroidectomies) and permanent hypocalcaemia was observed in 5 cases (14.7%) with a significantly lower immediate postoperative serum calcium than in the case of transient hypocalcaemia (P=0.035). Among the 11 patients operated for familial medullary thyroid carcinoma (MTC), 36.3% presented one or more sites of C-cell carcinoma. Among the 32 patients operated for thyroid nodule, 6.3% presented papillary adenocarcinoma. Histological results were benign in all other cases. ConclusionsThyroid surgery in children and adolescents is part of global multidisciplinary management of thyroid disorders in children. Recurrent laryngeal nerve paralysis is a rare complication, but may occur despite the use of intraoperative recurrent laryngeal nerve monitoring. Permanent hypoparathyroidism is the most common complication and is correlated with immediate postoperative serum calcium. Systematic prophylactic total thyroidectomy in patients with a RET proto-oncogene mutation allowed early diagnosis of MTC in one-third of cases. In view of the low rate of malignant nodules in our series, the malignant thyroid nodule rates reported in children in the literature may be overestimated.

Multiple endocrine neoplasia type 2B combined with analogous Marfan's syndrome: a case report and literature review

Objective To report a case of multiple endocrine neoplasia type 2B (MEN 2B) combined with analogous Marfan's syndrome with the related literature review,in order to improve the knowledge of this disease.Methods A case of MEN 2B combined with analogous Marfan's syndrome was admitted in Peking Union Medical College Hospital in Nov 2011.The patient was a 21-year-old male with the chief complaint of tongue thick for 13 years,found a tumor in right adrenal gland for 3 months.The patient underwent radical thyroidectomy and lymph node dissection in April 2011 because of thyroid tumor,and postoperative pathology confirmed the diagnosis of medullary thyroid carcinoma(T2N1bM0).The patient had normal blood pressure without fluctuation.Physical examination indicated that the patient had thin limbs,long fingers and long toes.Carpal syndrome and finger syndrome were positive.There were multiple tumor like nodules in the tip of the tongue,lips,inner canthus of eyelids,and laryngoscopy showed multiple nodulars in bilateral vocal cord and bilateral tip splitting.Enhanced CT showed a tumor of 2.9 cm×3.4 cm×3.8 cm in the right adrenal gland.Endocrine examination revealed high catecholamines:norepinephrine 159.3 nmol,epinephrine 13.3 nmol,and DA 918.2 nmol.131I-MIBG was positive for pheochromocytoma.The clinical manifestation was in stationary state.Preoperative diagnosis was MEN 2B,right adrenal pheochromocytoma,medullary thyroid carcinoma (T2N1bM0)after operation,multilple mucosa neurofibroma and analogous Marfan's syndrome.Results The pheochromocytoma in right adrenal gland was removed by laparoscopy under general anesthesia successfully on Dec 12,2011.The postoperative pathology confirmed the diagnosis of pheochromocytoma.And gene mutation was found in exon 16 of RET gene.MEN 2B with analogous Marfan's syndrome was diagnosed.During the follow-up period for 28 months,the patient had normal blood pressure and heart rate without tumor recurrence or metastasis.Conclusions MEN 2B combined with analogous Marfan's syndrome is extremely rare.For patients with medullary thyroid carcinoma,pheochromocytoma should be considered before operation.For patients with analogous Marfan's appearance,Marfan's syndrome should be differentially diagnosed. Key words: Multiple endocrine neoplasia type 2B ; Pheochromocytoma ; Analogous Marfan's syndrome; RET gene

Medullary thyroid cancer diagnosis: An appraisal

Since its first description in 1951, a timely diagnosis of medullary thyroid carcinoma (MTC) may represent a diagnostic challenge in clinical practice. Several contributions have been addressed to the treatment and follow-up of MTC, but review articles focused on the diagnostic problems of this cancer in clinical practice are sparse. As a delayed diagnosis and an inadequate initial treatment may severely affect the prognosis of this thyroid malignancy, the appropriate use and the correct interpretation of the available diagnostic tools for MTC are of crucial importance. The purpose of the present article is to provide an easy-to-use guide reviewing the main issues of MTC diagnosis: (1) basal serum calcitonin; (2) stimulated serum calcitonin; (3) additional serum markers for MTC; (4) ultrasound and other imaging techniques; (5) fine-needle aspiration (FNA) cytology; (6) calcitonin measurement on FNA washout; (7) rearranged during transfection (RET) mutations; and (8) scope of the problem.

Genetics, Diagnosis, and Management of Medullary Thyroid Carcinoma and Pheochromocytoma/Paraganglioma

Medullary thyroid carcinoma (MTC) and pheochromocytoma/paraganglioma (PHEO/PGL) are rare neuroendocrine tumors. Because of the increased metastatic rates in certain genetic backgrounds, early diagnosis and treatment are essential to improved patient outcomes. Our objective was to summarize recent findings related to the genetics, diagnosis, and management of MTC and PHEO/PGL. A literature review was performed. MTC is primarily associated with mutations in the rearranged during transfection (RET) proto-oncogene. Determining the specific genetic mutation can guide patient management and screening. Early detection and appropriate surgical management of MTC is critical to prevent or limit metastatic spread, as treatment options for patients with metastatic disease are limited. PHEO/PGL also has a strong genetic component, with approximately 50% of cases linked to germline and somatic mutations in 15 genes. Although most PHEO/PGLs are benign, factors such as genetic background, size, tumor location, and high methoxytyramine levels are associated with higher rates of metastatic disease. The state-of-the-art diagnosis and localization of PHEO/PGLs is based on measurement of plasma metanephrines and methoxytyramine and functional imaging studies. For both PHEO/PGL and MTC, surgery is the only curative treatment. Treatment options for patients with metastatic disease are limited. As genetic testing becomes more widely available, the diagnosis of MTC and PHEO/PGL will be made earlier due to routine screening of at-risk patients. In addition, continued advances in basic science, diagnostic methods, and imaging techniques will improve understanding of the pathogenesis of these diseases and facilitate the introduction of novel treatment strategies for patients with metastatic disease.

Update on the Cytologic and Molecular Features of Medullary Thyroid Carcinoma

Medullary thyroid carcinoma (MTC) accounts for only 5% to 10% of all thyroid carcinomas, but it is the most aggressive form of well-differentiated thyroid carcinoma, being responsible for 8% to 15% of all thyroid cancer-related deaths. MTC is frequently diagnosed at a locally advanced or metastatic stage, and 10-year survival rates in these cases are <20%. Fine-needle aspiration biopsy of the thyroid gland is an accurate method to diagnose MTC, having a high sensitivity and specificity. The cytologic features of MTC are characteristic and the cytologic diagnosis of classic MTC is often straightforward, especially when combined with immunocytochemistry. However, because of its morphologic heterogeneity and overlap with other tumors, the differential diagnosis of MTC on cytology and on histology is broad with several potential pitfalls. Significant advances have been made over the last decade in understanding MTC. This concerns mainly the early detection of MTC, especially in familial forms (eg, multiple endocrine neoplasia type 2), and the identification of key molecular pathways and alterations which now offer promising targets for specific therapies in progressive MTC cases. Genetic testing (eg, RET mutation) has allowed for early detection in asymptomatic carriers and high-risk patients, with prophylactic thyroidectomy often being curative. Targeted therapies with multityrosine-kinase inhibitors (eg, vandetanib or cabozantinib) have emerged as promising new treatments for recurrent or metastatic MTC. In this review article, we discuss the cytologic features of MTC and its variants, its differential diagnosis, the role of ancillary studies, and the salient molecular features of MTC.

Medullary thyroid carcinoma in children.

Medullary thyroid carcinoma (MTC) originates from thyroid parafollicular C cells, and it accounts for 5% of thyroid malignancies. MTC is sporadic in approximately 80% and hereditary in 20% of cases. When hereditary it can be associated with other benign endocrine neoplasias and/or typical nonendocrine diseases, thus configuring the multiple endocrine neoplasia syndromes (type 2, MEN2/familial MTC, FMTC). Sporadic MTC is usually diagnosed in adult life. Children with clinically evident MTC are belonging to MEN2 families, particularly MEN2A and MEN2B. Children belonging to families with FMTC are usually identified by RET genetic screening shortly after birth or during childhood but they likely develop MTC later in adult life. A genotype-phenotype correlation has been observed between RET mutations and MEN2 syndromes. As for adults, the diagnosis of childhood MTC is based on serum calcitonin (Ct) and neck ultrasound with fine-needle aspiration if a thyroid nodule is present. The standard treatment is total thyroidectomy and central neck node dissection but, according to recent evidence, if the basal Ct is <30 pg/ml or following the institutional cutoff the neck node dissection can be avoided. For advanced metastatic cases, vandetanib has been demonstrated to be effective in children as well as adults.

Investigation of factors potentially influencing calcitonin levels in the screening and follow-up for medullary thyroid carcinoma: a cautionary note.

BackgroundThe malignant transformation of thyroid C cells is associated with an increase in human calcitonin (hCT), which can thus be helpful in the early diagnosis of medullary thyroid carcinoma (MTC). For this reason, hCT levels should be determined in all patients with nodular goitre. Hashimoto’s thyroiditis, nodular goitre and proton pump inhibitor (PPI) therapy are factors reported to influence basal serum hCT concentrations. The diagnostic role of mildly to moderately increased hCT levels is thus a matter of debate. In this study, we attempt to clarify the role of the aforementioned factors.MethodsFrom 2008 to 2009, we collected data from 493 patients who were divided into five groups. We assessed whether there were significant differences in hCT levels between patients with Hashimoto’s thyroiditis, patients with nodular goitre, patients with PPI therapy, and healthy control subjects. In addition, we investigated whether a delayed analysis of blood samples has an effect on serum hCT concentrations.ResultsImmunoradiometric assays (Calcitonin IRMA magnum, MEDIPAN) revealed that the time of analysis did not play a role when low levels were measured. Delayed analysis, however, carried the risk of false low results when serum hCT concentrations were elevated. Men had significantly higher serum hCT levels than women. The serum hCT concentrations of patients with Hashimoto’s thyroiditis and nodular goitre were not significantly different from those of control subjects. Likewise, PPI therapy did not lead to a significant increase in serum hCT concentrations regardless of the presence or absence of nodular goitre.ConclusionsIncreases in serum hCT levels are not necessarily attributable to Hashimoto’s thyroiditis, nodular goitre or the regular use of PPIs and always require further diagnostic attention.

Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China

Early and normative surgery is the only curative method for multiple endocrine neoplasia type 2 (MEN 2)-related medullary thyroid carcinoma (MTC). To study the timing of prophylactic total thyroidectomy (TT) for MEN 2-related MTC with different RET mutations in a Chinese population, and to compare the sensitivity and accuracy of fully-automated chemiluminescence immunoassay (FACLIA) and radioimmunoassay (RIA) for serum calcitonin (Ct). We collected 24 asymptomatic individuals from 8 unrelated Chinese families with MEN 2, and analyzed RET mutation and Ct levels. Then we performed TT on 17 of the 24 individuals, including TT (2/17), TT with bilateral level VI lymph-node dissection (B-LND(VI); 12/17) and TT with B-LND(VI)+modified unilateral/bilateral/local neck dissection (3/17). Histopathology revealed bilateral/unilateral MTC in 15/17 (88.2%; median diameter, 1.0cm) and bilateral C-cell hyperplasia in 2/17 (11.8%; p.V292M/R67H/R982C and p.C618Y). Lymph-node metastasis/fibro-adipose tissue invasion (p.C634R) or solely fibro-adipose tissue invasion (p.C634Y) were found in 2/17 (11.8%). Elevated pre-surgical Ct (pre-Ct) was identified by FACLIA in 17/17 (median age, 24.0), while pre-Ct by RIA was found in only 6/15 (P<0.001). The median follow-up was 22.0 months, during which 16/17 had no abnormality (one p.C634R individual had elevated Ct), and another 7 carriers still had consistently undetectable Ct by FACLIA. Our study highlights the importance and feasibility of individualized prophylactic TT for MEN 2-related MTC, based on predictive integrated screening of RET and pre-Ct levels. Besides, we recommend FACLIA to measure Ct for earlier diagnosis, treatment and follow-up monitoring of MTC.

Advanced medullary thyroid cancer: pathophysiology and management

Medullary thyroid carcinoma (MTC) is a rare malignant tumor originating from thyroid parafollicular C cells. This tumor accounts for 3%–4% of thyroid gland neoplasias. MTC may occur sporadically or be inherited. Hereditary MTC appears as part of the multiple endocrine neoplasia syndrome type 2A or 2B, or familial medullary thyroid cancer. Germ-line mutations of the RET proto-oncogene cause hereditary forms of cancer, whereas somatic mutations can be present in sporadic forms of the disease. The RET gene encodes a receptor tyrosine kinase involved in the activation of intracellular signaling pathways leading to proliferation, growth, differentiation, migration, and survival. Nowadays, early diagnosis of MTC followed by total thyroidectomy offers the only possibility of cure. Based on the knowledge of the pathogenic mechanisms of MTC, new drugs have been developed in an attempt to control metastatic disease. Of these, small-molecule tyrosine kinase inhibitors represent one of the most promising agents for MTC treatment, and clinical trials have shown encouraging results. Hopefully, the cumulative knowledge about the targets of action of these drugs and about the tyrosine kinase inhibitor-associated side effects will help in choosing the best therapeutic approach to enhance their benefits.

Pediatric Neck Masses

Pediatric Neck Masses