Presentation Of Medullary Thyroid Carcinoma Research Articles

Medullary thyroid carcinoma presenting with carcinoid syndrome: a case report

Medullary thyroid carcinoma presenting with carcinoid syndrome: a case report

Medullary Thyroid Carcinoma Presenting with Calcified Thyroid Nodule, Calcified Lung and Cervical Lymph Node Metastasis: A Case Report

Medullary Thyroid Carcinoma Presenting with Calcified Thyroid Nodule, Calcified Lung and Cervical Lymph Node Metastasis: A Case Report

Rare presentation of medullary thyroid carcinoma

Rare presentation of medullary thyroid carcinoma

Papillary and Medullary Thyroid Carcinomas Presenting as Collision Tumors: A Case Series of 21 Cases at a Tertiary Care Cancer Center.

Collision tumor is the occurrence of two histologically and morphologically distinct tumors within the same organ with no histological admixture. Collision tumors of the thyroid are extremely rare constituting < 1% of all thyroid tumors. Clinical profiles and pathological features of Medullary thyroid carcinoma (MTC) and Papillary thyroid carcinoma (PTC) presenting as Collision tumors of thyroid, diagnosed between 2009 and 2019, at a tertiary care cancer center were retrospectively analyzed. Collision tumors comprised 4.7% of all MTC cases diagnosed over 10years. A total of 21 cases (11males, 11 females, M:F = 1) were retrieved with the mean age of patients being 45.33years (range 26-77years). More than half of PTCs involved the right lobe of the thyroid (66.6%). About half (53.4%) of MTCs affected the left lobe. Imaging done pre-operatively failed to identify the smaller second tumor in 60% of the cases with both tumours in separate lobes. Pre-operative FNAC showed only MTC in all 8 cases in which it was done. Papillary microcarcinoma (m-PTC) was seen in 85.7% cases, with one case of multifocal m-PTC. MTC (mean size 3.12cm), on an average, was 3 times larger than the PTC (mean size 0.91cm). The histological variants of MTC included-oncocytic (1/21, 4.7%), spindle cell (1/21, 4.7%), epithelial (3/21, 14.2%) and classical (16/21, 76.2%) and of PTC included classic PTC (12/21, 57.14%), Hurthle cell (2/21, 9.52%), tall cell (1/21, 4.76%) and follicular variant of PTC (6/21, 28.57%). The microscopic extrathyroidal extension (ETE) due to MTC and PTC component was 42.8% and 9.5% respectively. Lymph node metastasis was seen in 16 (76.2%) cases; 87.5% (14/16) of which were contributed by MTC, 12.5% (2/16) by PTC alone, and 12.5% (2/16) cases showed metastasis from both MTC and PTC. MTC had a higher stage than PTC in 85.5% of cases. Collision tumors of the thyroid are exceedingly rare, and possibly underdiagnosed due to variation in sampling techniques, especially of the grossly "normal lobe". The low incidence in our cohort is in favor of the "Chance theory" of co-occurrence. This diagnosis is important due to its therapeutic and prognostic implications.

Metastatic medullary thyroid carcinoma presenting as ectopic Cushing's syndrome.

SummaryA 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 pointsUnexplained 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.

Diarrhea as a form of presentation of medullary thyroid carcinoma.

A case is presented of a 57-year-old man consulting for chronic diarrhea. Based on subsequent findings (thyroid nodule and metastases), the possibility of metastatic medullary thyroid carcinoma (MTC) was raised. Thyroidectomy allowed diagnosing a multicentric left lobe MTC. MTC is a rare cause of diarrhea, but should be considered, especially in the presence of signs or symptoms of alarm or nonresponse to empirical therapy.

Abstract #832: Metastatic Medullary Thyroid Carcinoma Presenting as Ectopic Cushing Syndrome

Abstract #832: Metastatic Medullary Thyroid Carcinoma Presenting as Ectopic Cushing Syndrome

Medullary thyroid cancer presenting with airway obstruction

Abstract A 13-year-old boy with skeletal dysplasia was found to have a subglottic cyst on oesophagogastroduodenoscopy for chronic diarrhoea. He underwent a Laryngotracheobronchoscopy, which showed a narrow subglottis. Tracheal biopsies raised the possibility of a neuroendocrine disease. CT scan showed multiple lung nodules and a thyroid mass. A diagnosis of medullary thyroid carcinoma (MTC) was made based on these findings. He underwent a tracheostomy to relieve airway obstruction and open biopsies of the thyroid were taken, all suggestive of MTC. Genetic testing showed Multiple Endocrine Neoplasia Type 2A and 2B. We discuss the unusual presentation of Medullary Thyroid Carcinoma.

Five Patients with Medullary Thyroid Carcinoma Presenting as Asymptomatic Elevation of Carcinoembryonic Antigen Level

Five Patients with Medullary Thyroid Carcinoma Presenting as Asymptomatic Elevation of Carcinoembryonic Antigen Level

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.

Elastographic presentation of medullary thyroid carcinoma

Aim of the study was to evaluate the elastographic appearance of medullary thyroid carcinoma (MTC) by a retrospective evaluation of 18 nodules histologically proven as MTC. Free-hand qualitative elastography was performed using Hitachi Logos EUB 7500. The elasticity score (ES), was assessed based on a colour elastogram, the blue colour being correlated with hard tissue, red colour with soft tissue, and green with intermediate hardness. Nodules were classified into four classes. A alleged diagnosis of malignancy was assigned to nodules with ES3 or 4 and a presumptive diagnosis of benignity was assigned to nodules with an ES1 or 2. More than half (55.6 %) of MTCs have a low-intermediate grade of elasticity. The hardest lesions (ES4) were those with ultrasonographic features highly suspicious for malignancy. In conclusion, most of MTCs present an elastographic pattern of benignity. Therefore, qualitative elastography does not add useful information in pointing out MTC on the basis of its hardness. Our data suggest a marginal role for this technique in MTC evaluation.

An Unusual Presentation of Medullary Thyroid Carcinoma

Medullary thyroid carcinoma (MTC) is extremely uncommon having varied presentations & their prognosis is not exactly known; but as MTC is an aggressive tumor hence it needs to be documented in literature to help to know the behaviour of this variant. We report a rare presentation of medullary carcinoma of thyroid in a 48years old man who presented with huge swelling at left side of neck extending from parotid to supraclavicular region with normal-sized thyroid gland of long duration. FNAC & incision HPE of this swelling was inconclusive so we had operated this swelling. Immunohistochemistry reported it as metastatic Medullary carcinoma of thyroid; tumor cells express Cytokeratin, Calcitonin, EMA, Synaptophysin, Chromogranin-A. The stroma shows deposits of Amyloid, which have been confirmed by Congo red staining. Post-operatively FNAC from thyroid gland supported the diagnosis of Medullary carcinoma. Post-operatively the residual mass was regressed with chemotherapy & radiotherapy. The calcitonin level also decreased following this treatment. There was no recurrence at 11months but ultimately patient died with metastasis.

Occult Primary Medullary Thyroid Carcinoma Presenting with Pituitary and Parotid Metastases: Case Report and Review of the Literature

Occult Primary Medullary Thyroid Carcinoma Presenting with Pituitary and Parotid Metastases: Case Report and Review of the Literature

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for clinical-risk profiles. Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were studied. A total of 340 subjects from 103 families, age 4-86, were registered. There were 21 distinct single nucleotide germline mutations located in codons 609 (45 subjects), 611 (50), 618 (94), and 620 (151). MTC was present in 263 registrants, pheochromocytoma in 54, and hyperparathyroidism in 8 subjects. Of the patients with MTC, 53% were detected when asymptomatic, and among those with pheochromocytoma, 54%. Penetrance for MTC was 4% by age 10, 25% by 25, and 80% by 50. Codon-associated penetrance by age 50 ranged from 60% (codon 611) to 86% (620). More advanced stage and increasing risk of metastases correlated with mutation in codon position (609→620) near the juxtamembrane domain. Our data provide rigorous bases for timing of premorbid diagnosis and personalized treatment/prophylactic procedure decisions depending on specific RET exon 10 codons affected.

Medullary thyroid carcinoma presenting with an initial CEA elevation

Carcinoembryonic antigen (CEA) is a tumour marker commonly associated with gastrointestinal malignancy. Patients presenting with an elevated CEA will therefore often undergo extensive investigations in order to elucidate an underlying gastrointestinal malignancy that may not be clinically apparent. However the GI tract is not the only source of CEA elevation. We present a series of patients presenting with raised CEA levels that were initially investigated for a gastrointestinal cause, but after work up were detected to have medullary thyroid cancer. Four patients with raised CEA were evaluated for a gastrointestinal cause for the elevation. We discuss the non gastrointestinal causes for an elevated CEA. The paper highlights that in patients presenting with an elevated CEA, in whom a gastrointestinal cause has been ruled out, a tumour of neuroendocrine origin needs to be considered as a cause for the elevated CEA.

Markedly Elevated Serum Calcitonin Concentrations Associated with Initial Presentation But Not the Recurrent Presentation of Medullary Thyroid Carcinoma

Markedly Elevated Serum Calcitonin Concentrations Associated with Initial Presentation But Not the Recurrent Presentation of Medullary Thyroid Carcinoma

Medullary thyroid carcinoma presenting as rectangular cell type on fine‐needle aspiration

Medullary thyroid carcinoma typically presents as dyscohesive plasmacytoid, spindled, or polygonal cells on fine-needle aspiration smears. We recently encountered a case of sporadic medullary thyroid carcinoma that presented as a hypercellular aspirate composed of cohesive aggregates of rectangle-shaped cells. The case was mistakenly reported as a hypercellular follicular neoplasm on cytology. Subsequent thyroidectomy revealed medullary carcinoma. We draw attention to this distinctive rectangular cell type as an additional morphology for medullary thyroid carcinoma.

New presentation of familial medullary thyroid carcinoma in 87-year-old patient with high-riskRETproto-oncogene codon 620 mutation

We report a case of familial medullary thyroid carcinoma in an 87-year-old woman, despite the patient having a high-risk codon 620 mutation. Medline and PubMed were searched for cases and literature reviews relating to the following keywords: 'codon 620', 'medullary thyroid carcinoma', 'multiple endocrine neoplasia' and 'RET proto-oncogene'. We report the case of an 87-year-old woman who presented with a goitre, later identified as medullary thyroid carcinoma. Genetic analysis revealed a RET proto-oncogene codon 620 mutation. Genetic testing has revolutionised the management of medullary thyroid carcinoma. The genetic basis of hereditary medullary thyroid carcinoma lies with the RET proto-oncogene. Several disease-causing mutations of this gene have been identified and their clinical prognosis described. The penetrance of these mutations is high; as such, carriers progress to develop medullary thyroid carcinoma at a young age. Mutations at the codon 620 position are classified as high-risk for early development of medullary thyroid carcinoma; thus, the current recommendation is for prophylactic thyroidectomy at five years of age. In this case, the progress of hereditary medullary thyroid carcinoma was unique, considering the late presentation of medullary thyroid carcinoma despite the presence of the high-risk RET proto-oncogene codon 620 mutation. The authors wish to highlight the importance of this case, as it may present a counter-argument to the current recommendations for early, prophylactic thyroidectomy in codon 620 mutation carriers in order to prevent early development of medullary thyroid carcinoma.

Counselling in multiple endocrine neoplasia syndromes: from individual experience to general guidelines

Counselling of patients and closely related family members has to take a central place in management of hereditary diseases, like multiple endocrine neoplasia (MEN) syndromes including von Hippel-Lindau (VHL) disease. In the strategy of health care, preventive medicine such as periodic clinical examination of families at-risk needs a high priority, because in general it is assumed that continuity in attendance is cost-effective. Counselling has to be based on individual medical experience of the doctor, adjusted to common guidelines and the findings in the family. Information leaflets, appropriate outpatient departments and an extensive network of specialists will facilitate continuity in care. Flow diagrams involving practical guidelines for diagnosis, treatment and follow up need to be applicable and after adjustment, should be accepted generally. Specially trained paramedics for counselling are required as a network that will guarantee periodic clinical examination and secure optimal prevention. Such paramedics will coordinate nationwide multidisciplinary guidance, and organize preventive and emergency cure for these patients. They will be supervised by expert clinicians in the field, and collaborate with specialists for social and psychological issues, patient organizations and clinical genetic centres. All of these professionals are responsible together for providing patients with up to date clinical information (via newsletters, Internet, etc.). Recently, in the Netherlands, a project was initiated to guarantee continuity in care and study the delivery of care. In order to realize this plan, funding has to be provided in the current research programme. In a future system support has to be obtained on a continuous base, preferably by the government and health care insurers and supervised by the national institute for health care.

Medullary carcinoma of the thyroid with metastasis to the pituitary gland.

A case of metastatic medullary thyroid carcinoma presenting with anterior pituitary dysfunction is reported. Initial evaluation revealed an intrasellar mass at a time when serum calcitonin and carcinoembryonic antigen levels were elevated, and histological analysis of resected tissue demonstrated the presence of metastatic medullary carcinoma of the thyroid. Immunohis-tochemical analysis confirmed the presence of calcitonin in the tumor cells. Like other malignant processes, metastatic medullary carcinoma of the thyroid may involve the pituitary gland and should be included in the differential diagnosis in the appropriate clinical setting.