scholarly journals Atypical Presentation of a Medullary Thyroid Carcinoma Producing Acth and Serotonin

2019 ◽  
Vol 12 (3) ◽  
pp. 742-748 ◽  
Author(s):  
Mariana Ferreira ◽  
Christianne Toledo de Souza Leal ◽  
Lize Vargas Ferreira ◽  
Danielle Guedes Andrade Ezequiel ◽  
Mônica Barros Costa

Medullary carcinoma accounts for about 5% of all thyroid malignancies. The tumor may produce other hormones in addition to calcitonin that typically occurs in the presence of distant metastases. The aim of this report is to present a case of invasive medullary thyroid carcinoma producing ACTH and serotonin. A male patient sought medical attention due to facial plethora and distal paresthesia. On thyroid ultrasound, he presented a hypoechoic nodule measuring 6.7 × 3.2 × 3.5 cm, with punctate calcifications and central vascular pattern. The chest computed tomography showed an extensive solid lesion with epicenter in the superior mediastinum and absence of a cleavage plane with the left thyroid lobe. The lesion extended from the glottic area to the lower portion of the trachea and invaded esophagus, posterior tracheal wall, and left jugular. The patient presented hyperglycemia, hypokalemia, increased free urinary cortisol, calcitonin, ACTH and 5-hydroxyindoleacetic acid levels. The nodule cytological examination obtained by fine-needle aspiration was inconclusive, and the open biopsy confirmed the diagnosis of medullary thyroid carcinoma. Due to the advanced disease stage and increased risk of large caliber vessels injury in case of surgery, local chemotherapy and radiotherapy were recommended. With this report, we want to draw attention to an unusual association between advanced medullary thyroid carcinoma with an aggressive course and ectopic production of ACTH and serotonin.

2010 ◽  
Vol 17 (4) ◽  
pp. 953-963 ◽  
Author(s):  
Débora R Siqueira ◽  
Mírian Romitti ◽  
Andreia P da Rocha ◽  
Lucieli Ceolin ◽  
Camila Meotti ◽  
...  

The possible role of RET variants in modifying the natural course of medullary thyroid carcinoma (MTC) is still a matter of debate. Here, we investigate whether the RET variants L769L, S836S, and G691S/S904S influence disease presentation in hereditary or sporadic MTC patients. One hundred and two patients with hereditary MTC and 81 patients with sporadic MTC attending our institution were evaluated. The frequencies of RET polymorphisms in hereditary MTC were as follows: L769L, 17.3%; S836S, 7.95%; and S904S/G691S, 18.2%. No associations were observed between these polymorphisms and pheochromocytoma, hyperparathyroidism, lymph node, or distant metastasis. However, patients harboring the S836S variant were younger than those without this allele (17±8.2 vs 28.6±14.4 years, P=0.01), suggesting that these patients had metastases at a young age. Accordingly, the cumulative frequency of local and/or distant metastases as estimated by Kaplan–Meier curves showed that lymph node and distant metastases occurred earlier in patients harboring the S836S variant (P=0.003 and P=0.026 respectively). The S836S allele frequency was higher in sporadic MTC patients than in controls (10.5 vs 3.1%, P=0.01). Individuals harboring the S836S variant were younger (38.6±13.3 vs 48.5±16.7 years, P=0.02) and showed a higher percentage of lymph node and distant metastases (P=0.02 and P=0.04 respectively). Kaplan–Meier estimates of lymph node and distant metastases yielded distinct curves for patients with or without the S836S allele (P=0.002 and P=0.001 respectively). Additional analyses using a COX regression model showed that the S836S variant was independently associated with metastatic disease (hazard ratio 2.82 (95% confidence interval 1.51–5.26), P=0.001). In conclusion, the RET S836S variant is associated with early onset and increased risk for metastatic disease in patients with hereditary or sporadic MTC.


2014 ◽  
Vol 29 (2) ◽  
pp. 184-186 ◽  
Author(s):  
Sema Sezgin Göksu ◽  
Uğur A. Göksu ◽  
Seyda Gündüz ◽  
Hasan S. Coşkun

Introduction Carcinoembryonic antigen (CEA) is a commonly used tumor marker, and its value in colon cancer is well established. However it is overexpressed in many different tumors. Here we report a case of colorectal cancer with high postoperative CEA levels that were associated with medullary thyroid carcinoma. Case A 60-year old man was operated for colon cancer. Postoperative CEA level was 107.6 ng/mL, while preoperative CEA level was unknown. For the detection of distant metastasis or local recurrence, we performed 18-flouro deoxyglycose (FDG) positron emission tomography (PET) and computed tomography (CT). We observed an increased FDG accumulation in the right lobe of the thyroid. The patient had cystic and non-metabolic lesions in the liver, and started a treatment with FOLFOX regimen. After 3 months of chemotherapy CEA was still as high as 146 ng/mL. There was no pathologic FDG uptake other than the thyroid nodule in PET-CT. Fine needle aspiration of the thyroid nodule revealed a follicular neoplasia. The patient underwent total thyroidectomy and histopathology revealed a medullary thyroid carcinoma. Postoperative CEA levels then lowered to normal ranges. Conclusion The case we here report was a stage III colorectal cancer with high CEA levels. Our focus on searching a residual/metastatic disease made us blind to other possible explanations; in fact, none of us noticed the thyroid nodule. This case reminds us not to forget that high CEA levels can be associated with conditions other than colon cancer, such as thyroid medullary carcinoma.


2018 ◽  
Author(s):  
Nerea Utrilla Uriarte ◽  
Pedro Gonzalez Fernandez ◽  
Alba Esteban Figueruelo ◽  
Marina Nevares Herrero ◽  
Javier Santamaria Sandi

Medicina ◽  
2021 ◽  
Vol 57 (6) ◽  
pp. 609
Author(s):  
Ioannis Passos ◽  
Elisavet Stefanidou ◽  
Soultana Meditskou-Eythymiadou ◽  
Maria Mironidou-Tzouveleki ◽  
Vasiliki Manaki ◽  
...  

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.


1980 ◽  
Vol 17 (3) ◽  
pp. 323-330 ◽  
Author(s):  
G. G. Long ◽  
R. M. Clemmons ◽  
H. Heath

A medullary carcinoma of the thyroid in a dog first became evident because of a distant metastasis. The histologic characteristics of the tumor differ from those previously reported in dogs in that this tumor was highly malignant; anaplasia and mitotic figures were common. The diagnosis was substantiated by radioimmunoassay for calcitonin. Serotonin and 5-hydroxytryptophan also were elevated in the neoplastic tissue. The relation of the biochemical alterations to the clinical course was not clear.


2021 ◽  
Vol 12 ◽  
pp. 204201882110496
Author(s):  
Marisa A. Bartz-Kurycki ◽  
Omowunmi E. Oluwo ◽  
Lilah F. Morris-Wiseman

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.


2014 ◽  
Vol 171 (6) ◽  
pp. 761-767 ◽  
Author(s):  
R B Barbieri ◽  
N E Bufalo ◽  
R Secolin ◽  
L V M Assumpção ◽  
R M B Maciel ◽  
...  

BackgroundThe role of key cell cycle regulation genes such as, CDKN1B, CDKN2A, CDKN2B, and CDKN2C in sporadic medullary thyroid carcinoma (s-MTC) is still largely unknown.MethodsIn order to evaluate the influence of inherited polymorphisms of these genes on the pathogenesis of s-MTC, we used TaqMan SNP genotyping to examine 45 s-MTC patients carefully matched with 98 controls.ResultsA multivariate logistic regression analysis demonstrated that CDKN1B and CDKN2A genes were related to s-MTC susceptibility. The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (40.21%), increasing the susceptibility to s-MTC (OR=2.47; 95% CI=1.048–5.833; P=0.038). By contrast, the rs11515*CG+GG of CDKN2A gene was more frequent in the controls (32.65%) than in patients (15.56%), reducing the risk for s-MTC (OR=0.174; 95% CI=0.048–0.627; P=0.0075). A stepwise regression analysis indicated that two genotypes together could explain 11% of the total s-MTC risk. In addition, a relationship was found between disease progression and the presence of alterations in the CDKN1A (rs1801270), CDKN2C (rs12885), and CDKN2B (rs1063192) genes. WT rs1801270 CDKN1A patients presented extrathyroidal tumor extension more frequently (92%) than polymorphic CDKN1A rs1801270 patients (50%; P=0.0376). Patients with the WT CDKN2C gene (rs12885) presented larger tumors (2.9±1.8 cm) than polymorphic patients (1.5±0.7 cm; P=0.0324). On the other hand, patients with the polymorphic CDKN2B gene (rs1063192) presented distant metastases (36.3%; P=0.0261).ConclusionIn summary, we demonstrated that CDKN1B and CDKN2A genes are associated with susceptibility, whereas the inherited genetic profile of CDKN1A, CDKN2B, and CDKN2C is associated with aggressive features of tumors. This study suggests that profiling cell cycle genes may help define the risk and characterize s-MTC aggressiveness.


2017 ◽  
Vol 45 (12) ◽  
pp. 1148-1152 ◽  
Author(s):  
Sharon B. Sams ◽  
Kenneth D. Tompkins ◽  
Sarah Mayson ◽  
Christopher D. Raeburn ◽  
Sanjana Mehrotra

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