scholarly journals Diagnosis and pathologic characteristics of medullary thyroid carcinoma—review of current guidelines

2019 ◽  
Vol 26 (5) ◽  
Author(s):  
C. M. Thomas ◽  
S. L. Asa ◽  
S. Ezzat ◽  
A. M. Sawka ◽  
D. Goldstein
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Dna Analysis ◽  
Neuroendocrine Tumour ◽  
Needle Aspiration ◽  
Differentiated Thyroid Carcinoma ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Fibrous Stroma

Background Medullary thyroid carcinoma (mtc) is a rare malignancy of the thyroid gland, and raising awareness of the recommended diagnostic workup and pathologic characteristics of this malignancy is therefore important.Methods We reviewed the current clinical practice guidelines and recent literature on mtc, and here, we summarize the recommendations for its diagnosis and workup. We also provide an overview of the pathology of mtc.Results A neuroendocrine tumour, mtc arises from parafollicular cells (“C cells”), which secrete calcitonin. As part of the multiple endocrine neoplasia (men) type 2 syndromes, mtc can occur sporadically or in a hereditary form. This usually poorly delineated and infiltrative tumour is composed of solid nests of discohesive cells within a fibrous stroma that might also contain amyloid. Suspicious nodules on thyroid ultrasonography should be assessed with fine-needle aspiration (fna). If a diagnosis of mtc is made on fna, patients require baseline measurements of serum calcitonin and carcinoembryonic antigen. Calcitonin levels greater than 500 pg/mL or clinical suspicion for metastatic disease dictate the need for further imaging studies. All patients should undergo dna analysis for RET mutations to diagnose men type 2 syndromes, and if positive, they should be assessed for possible pheochromocytoma and hyperparathyroidism.Summary Although the initial diagnosis of a suspicious thyroid nodule is the same for differentiated thyroid carcinoma and mtc, the remainder of the workup and diagnosis for mtc is distinct.

scholarly journals Usefulness of preoperative serum calcitonin in patients with nodular thyroid disease without suspicious history or cytology for medullary thyroid carcinoma

2013 ◽  
Vol 57 (4) ◽  
pp. 312-316 ◽  
Author(s):  
Pedro Weslley Rosário ◽  
Gustavo Cancela Penna ◽  
Kamilla Brandão ◽  
Bárbara Érika Souza
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Endocrine Neoplasia ◽  
Preoperative Serum ◽  
History Of

OBJECTIVE: To evaluate the usefulness of preoperative serum calcitonin (sCT) in patients with nodular disease without suspicion of medullary thyroid carcinoma (MTC) in history or cytology. PATIENTS AND METHODS: sCT was measured before thyroidectomy in 494 patients with nodular disease who had no family history of MTC or multiple endocrine neoplasia type 2, and no cytological suspicion of MTC. RESULTS: Basal sCT was < 10 ng/mL in 482 patients and none of them had MTC. One patient with basal sCT > 100 pg/mL had MTC. Among the 11 patients with basal sCT between 10 and 100 pg/mL, MTC was diagnosed in only one. The two patients with MTC were submitted to total thyroidectomy, combined with elective lymph node dissection indicated exclusively based on hypercalcitoninemia, and sCT was undetectable after six months. CONCLUSIONS: Preoperative sCT is useful for the detection of sporadic MTC in patients with nodular disease, even in the absence of suspicious history or cytology.

scholarly journals Metastatic medullary thyroid carcinoma presenting as ectopic Cushing’s syndrome

2021 ◽  
Vol 2021 ◽  
Author(s):  
Hannah E Forde ◽  
Niamh Mehigan-Farrelly ◽  
Katie Ryan ◽  
Tom Moran ◽  
Megan Greally ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Recurrent Disease ◽  
Neuroendocrine Tumour ◽  
List Type ◽  
Acth Secretion ◽  
Ectopic Acth ◽  
Serum Calcitonin ◽  
Ectopic Acth Secretion ◽  
Medullary Thyroid

Summary A 41-year-old male presented to the Emergency Department with a 6-month history of back and hip pain. Skeletal survey revealed bilateral pubic rami fractures and MRI of the spine demonstrated multiple thoracic and lumbar fractures. Secondary work up for osteoporosis was undertaken. There was no evidence of hyperparathyroidism and the patient was vitamin D replete. Testosterone (T) was low at 1.7 nmol/L (8.6–29.0) and gonadotrophins were undetectable. The patient failed a 1 mg dexamethasone suppression test (DST) with a morning cortisol of 570 nmol/L (<50) and subsequently a low dose DST with a cortisol post 48 h of dexamethasone of 773 nmol/L (<50) and an elevated ACTH 98 ng/L. A corticotropin-releasing factor (CRF) test suggested ectopic ACTH secretion. The patient was commenced on teriparatide for osteoporosis and metyrapone to control the hypercortisolaemia. A positron emission tomography (PET) scan to look for the source of ACTH secretion demonstrated right neck adenopathy. Biopsy and subsequent lymph node dissection were performed and histology revealed a metastatic neuroendocrine tumour. Immunostaining was positive for calcitonin and thyroid transcription factor 1 (TTF1). Serum calcitonin was also significantly elevated at 45 264 ng/L (<10). The patient proceeded to a total thyroidectomy and left neck dissection. Histology confirmed a 7 mm medullary thyroid carcinoma (MTC). Post-operatively, the patient commenced vandetanib therapy and achieved a clinical and biochemical response. After approximately 18 months of vandetanib therapy, the patient developed recurrent disease in his neck. He is currently on LOXO-292 and is doing well 36 months post-diagnosis. Learning points Unexplained osteoporosis requires thorough investigation and the workup for secondary causes is not complete without excluding glucocorticoid excess. MTC should be considered when searching for sources of ectopic ACTH secretion. Resistance to tyrosine kinase inhibitors is well described with MTC and clinicians should have a low threshold for screening for recurrent disease.

Serum Calcitonin-Negative Medullary Thyroid Carcinoma: Role of CgA and CEA as Complementary Markers

2008 ◽  
Vol 23 (2) ◽  
pp. 129-131 ◽  
Author(s):  
L. Giovanella ◽  
S. Crippa ◽  
L. Ceriani
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Needle Aspiration ◽  
Radical Cure ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Preoperative Ct ◽  
Serum Cea

The biochemical activity of medullary thyroid carcinoma (MTC) includes production of calcitonin (CT), chromogranin A (CgA) and carcinoembryonic antigen (CEA). Routine CT measurement has been proposed as part of the initial evaluation of thyroid nodules and its use could ultimately decrease the morbidity and mortality of MTC. We report on a 43-year-old female patient with a large MTC expressing CT, CgA and CEA on immunostains but with negative preoperative CT and CgA results. Serum CEA was slightly increased and its rapid disappearance predicted radical cure by surgery as confirmed by 2-year follow-up. Our report illustrates that a diagnosis of MTC cannot always be excluded by negative preoperative CT. Fine-needle aspiration with cytomorphological analysis and complementary immunocytochemistry remains an essential diagnostic tool. Finally, serum aliquots must be stored before thyroid surgery in order to measure circulating forms of complementary markers found by tissue immunostaining (CEA and CgA)

scholarly journals Serum Markers Measured in FNA Fluids of Medullary Thyroid Carcinoma Occurring as a Cyst

2016 ◽  
Vol 31 (2) ◽  
pp. 224-227 ◽  
Author(s):  
Pierpaolo Trimboli ◽  
Leo Guidobaldi ◽  
Nicola Locuratolo ◽  
Francesca R. Piro ◽  
Marco Giordano ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Needle Aspiration ◽  
Serum Markers ◽  
High Serum ◽  
Thyroid Lesion ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Fine Needle ◽  
Ultrasound Evaluation

Background Diagnosis of medullary thyroid carcinoma (MTC) is still a challenge, and the measurement of calcitonin in fine-needle aspiration (FNA) washout has been recently introduced. Rarely, MTC presents as a cyst and its preoperative detection is difficult. Methods A 66-year-old woman was referred to us with high serum calcitonin. Ultrasound evaluation showed one cystic and one solid nodule. FNA was performed in both nodules and calcitonin, procalcitonin and CEA were measured in the aspirate fluids. Results The markers showed elevated levels in the FNA washout of the cyst and the patient was operated on. Final histology demonstrated MTC of the cystic nodule. Four weeks later, all serum markers were undetectable. Conclusions In the presence of a cystic thyroid lesion the diagnosis of MTC should be taken into account, and measuring calcitonin in FNA fluid is relevant. The determination in FNA of other markers is technically feasible but its role should be evaluated in larger series.

scholarly journals Identification of occult metastases of medullary thyroid carcinoma by calcitonin measurement in washout fluid from fine needle aspiration of cervical lymph node

2009 ◽  
Vol 53 (4) ◽  
pp. 479-481 ◽  
Author(s):  
Debora Siqueira ◽  
Andreia Possati Rocha ◽  
Marcia Khaled Puñales ◽  
Ana Luiza Maia
Keyword(s):  
Lymph Node ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Fine Needle Aspiration ◽  
Residual Disease ◽  
Needle Aspiration ◽  
Illustrative Case ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Fine Needle

Medullary thyroid carcinoma (MTC) may occur sporadically or as a manifestation of an autosomal-dominant inherited syndrome, the multiple endocrine neoplasia type 2. DNA-based RET genotype analysis gained worldwide acceptance in the identification of asymptomatic gene carrier. MTC synthesize and secrete calcitonin, a well established tumor marker and postoperative level of serum calcitonin, indicates whether residual disease was left behind and whether reintervention is necessary. However, management is difficult when routine imaging studies for MTC are negative. This paper brings a report of an illustrative case of a patient with MTC diagnosed by molecular screening, who persisted with detectable levels of serum calcitonin after surgical procedure. After 48 months, an increase in serum calcitonin impelled us to investigate the disease focus. Cervical-US and calcitonin measurement in washout fluid from fine needle aspiration was successfully used to identify MCT metastasis in a lymph node, allowing appropriated reintervention and illustrating the potential clinical applicability of this method.

scholarly journals Concomitant medullary thyroid carcinoma with paraganglioma-like pattern and papillary thyroid carcinoma

2019 ◽  
Vol 2019 ◽  
Author(s):  
C Greco ◽  
G Brigante ◽  
E Taliani ◽  
S Corrado ◽  
M Simoni ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Fine Needle Aspiration ◽  
Needle Aspiration ◽  
List Type ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Fine Needle ◽  
Additional Tool ◽  
Post Surgery

Summary A 74-year-old man was referred to the Endocrinology Unit because of multinodular goiter. The dominant nodule (1.7 × 1.9 × 2.4 cm), at the medium-superior third of the left lobe, was inhomogeneously hypoechoic, with irregular margins, macrocalcifications and intranodular vascularization. Fine-needle aspiration biopsy (FNAB) was performed. The cytological diagnosis was TIR 2, benign, according to the 2013 Italian thyroid cytology classification system. Moderately high serum calcitonin (s-Ct) (61.5 pg/mL, n.r. 0–7.5) and normal CEA were detected. The Ct level in FNAB wash-out fluid (Ct-FNAB) was 1450 pg/mL. Based on s-Ct and Ct-FNAB levels, patient underwent total thyroidectomy. Macroscopically, a dominant circumscribed nodule of 2 ecm was described; the histological and immunohistochemical features identified medullary thyroid carcinoma (MTC) with paraganglioma (PG)-like pattern positive for Ct, CEA and chromogranin and negative for S-100 sustentacular cells (SC). Moreover, papillary carcinoma of 3 mm in the right lobe was also associated. No areas of hyperaccumulation of the tracer were documented at Ga68 PET/CT. No RET-proto-oncogene mutations were found. Post-surgery s-Ct levels were within normal range (4 pg/mL). Two years after thyroidectomy, the patient is still disease-free. We reported a case of sporadic and rare variant of MTC: this is the ninth described case of PG-like MTC. In this case, cytologically benign, the clinical suspicion arose from high Ct values at FNAB wash-out fluid. Even if clinical behavior of this variant seems indolent, additional studies are necessary to understand prognoses and predictive factors. Learning points: Several unusual histological variants of medullary thyroid carcinoma (MTC) have been described such as spindle cell, giant cell, clear cell, melanotic, squamous, angiosarcoma-like variants; even rarer is the paraganglioma (PG)-like pattern. We here describe a case of medullary PG-like thyroid carcinoma in a 74-year-old man. This is a rare histological variant of MTC hardly diagnosed by cytology, since immunohistochemical investigations are necessary. Measurement of calcitonin both in serum and in wash-out fluid from fine-needle aspiration could be an additional tool for an early and non-invasive identification of these variants.

scholarly journals Incidental detection of familial medullary thyroid carcinoma by calcitonin screening for nodular thyroid disease

1999 ◽  
pp. 286-289 ◽  
Author(s):  
B Mayr ◽  
G Brabant ◽  
A von zur Muhlen
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Thyroid Disease ◽  
Thyroid Nodules ◽  
Fine Needle Aspiration Biopsy ◽  
Cost Effective ◽  
Needle Aspiration ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Calcitonin Screening

Serum calcitonin screening has recently been found to be a useful supplement to fine-needle aspiration biopsy, ultrasound and radionuclide imaging in the evaluation of thyroid nodules. We describe a case where introduction of routine calcitonin screening in nodular thyroid disease led to the detection of a family with medullary thyroid carcinoma. The benefits and problems of basal and stimulated serum calcitonin testing and ret-proto-oncogene mutation studies are exemplified and we discuss the appropriate use and interpretation of these tests. We conclude that routine basal serum calcitonin measurement in nodular thyroid disease and thoughtful use of ret-mutation analysis is cost-effective in detecting medullary thyroid carcinoma and multiple endocrine neoplasia type II.

Diagnostic Challenges of Medullary Thyroid Carcinoma

Oncology ◽  
2021 ◽  
pp. 1-11
Author(s):  
Robert D. Leimbach ◽  
Thanh D. Hoang ◽  
Mohamed K.M. Shakir
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Fine Needle Aspiration ◽  
Autosomal Dominant ◽  
Needle Aspiration ◽  
Definitive Treatment ◽  
Serum Calcitonin ◽  
Medullary Thyroid ◽  
Fine Needle ◽  
Laboratory Technology

<b><i>Background:</i></b> Medullary thyroid carcinoma (MTC) comprises 1–2% of all thyroid cancers, yet 15% of all thyroid cancer-related deaths. While up to 20% of cases may be predicted due to autosomal dominant germline mutations, 80% of cases are sporadic. However, due to non-specific presenting symptoms and diagnostic imaging, prompt diagnosis and treatment has remained elusive. This article will further investigate the limitations of MTC diagnosis and look into future areas for diagnostic improvement. <b><i>Methods:</i></b> Relevant articles were identified using a systematic PubMed and Google Scholar search. <b><i>Results:</i></b> Prophylactic total thyroidectomy for the 20% of MTC cases that are present in autosomal dominant disorder provides definitive treatment. Serum calcitonin (Ctn) screening has several technical limitations due to population variability and laboratory assay interference, but advances in laboratory technology and combined use with fine needle aspiration increase its sensitivity. Other serum assays such as carcinoembryonic antigen and procalcitonin have limited applicability. Thyroid ultrasound remains the gold standard for the initial diagnostic planning, with limited application for CT, MRI, and PET imaging. <b><i>Conclusion:</i></b> With complete surgical resection the only definitive treatment, early MTC diagnosis has presented an elusive challenge, mainly due to its relative rarity and difficulty in finding an economic screening strategy. Careful family history combined with fine needle aspiration with serum Ctn analysis can improve diagnostic sensitivity and specificity to greater than 95%.

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