Medullary thyroid carcinoma in medical management of thyroid disease
David S. Cooper, Jennifer A. Sipos in Medical Management of Thyroid Disease, 2018
This chapter provides a comprehensive review of Medullary thyroid cancer (MTC), including its clinical presentation and the different behaviors of hereditary versus sporadic disease, initial surgical management, prognostic indicators, and the systemic treatments now available as a standard of care for patients with advanced and progressive MTC. MTC, a neuroendocrine malignancy of thyroid C cells, accounts for approximately 1–2% of all thyroid malignancies. Since 1993, strong correlations observed between RET mutations and their respective clinical expression drove consensus recommendations for evaluation, treatment to prevent morbidity and mortality associated with hereditary MTC. Patients diagnosed with MTC should be evaluated for symptoms of dysphagia, dyspnea, and hoarseness, which may indicate the presence of locally advanced disease. Bone metastases in MTC are often clinically silent. In a retrospective study of over 1000 patients with MTC from a single center, 25% of patients with bone metastases were identified within 3 months of MTC diagnosis.
Rare Mendelian cancer syndromes and other cancers
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
The lifetime risk of breast cancer for women with Cowden syndrome is high, probably equivalent to that of BRCA gene carriers, so these women should be offered regular breast screening and possibly risk-reducing surgery. Multiple endocrine neoplasia type 2 is due to mutations in the RET gene. The main features are medullary thyroid cancer and phaeochromocytomas. Annual biochemical screening for phaeochromocytomas is by measurement of 24-hour urinary metanephrines. Caused by mutations in the CDH1 tumour suppressor gene, hereditary diffuse gastric cancer is another autosomal dominant cancer predisposition syndrome. In contrast to the dominantly inherited specific tumour syndromes previously discussed, most of the Mendelian disorders showing a generalised tendency to malignancy, especially in early life, follow autosomal recessive inheritance. The risk for further siblings of an isolated case is unlikely to exceed 1% and is probably nearer the 1 in 300 risk found overall for siblings in childhood cancer.
Endocrine disorders
Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven in Succeeding in Paediatric Surgery Examinations, 2017
Multiple endocrine neoplasia (MEN) syndromes are a group of endocrine disturbances that affect hormone-secreting glands. These are rare autosomal dominant conditions that predispose affected individuals to benign and malignant tumours of the pituitary, thyroid, parathyroids, adrenals, endocrine pancreas, paraganglia or non-endocrine organs. The classic MEN syndromes include MEN type 1 (MEN1) and MEN type 2 (MEN2). MEN1 is an autosomal dominant disorder with a prevalence of around 2 per 100 000. It is characterised by the combined occurrence of tumours of the parathyroid glands, the pancreatic islet cells and the anterior pituitary. MEN2 is an autosomal dominant disorder with an estimated prevalence of 2.5 per 100 000 in the general population. Both sexes are nearly equally affected. MEN2 syndrome is often first suspected when a patient is found to have one or more of the tumours described in the syndrome, usually medullary thyroid cancer, or a family history.
The value of genetic screening in medullary thyroid cancer
Published in Expert Review of Endocrinology & Metabolism, 2014
Theodora Pappa, Maria Alevizaki
Medullary thyroid cancer (MTC) accounts for ~10% of thyroid carcinomas and occurs in sporadic and hereditary forms. Early diagnosis significantly impacts the clinical course, management and outcome of the disease. The identification of germline-activating mutations of the rearranged during transfection oncogene in patients with hereditary MTC led to significant progress in the diagnostic and therapeutic approach, thus improving the quality of care provided, and consequently, disease prognosis. In the present review, various aspects of genetic screening (GS) in MTC will be covered, which elucidate the value of GS in guiding clinical decision making, therapy selection and appropriate genetic counseling of the affected families. GS should be offered to every MTC patient, based on the personal and family medical history, to allow optimal clinical management and follow-up.
Detection of medullary thyroid cancer: a focus on serum calcitonin levels
Published in Expert Review of Endocrinology & Metabolism, 2008
Tracy S Wang, Sanziana A Roman, Julie Ann Sosa
Medullary thyroid cancer (MTC) is a neuroendocrine tumor derived from the C cells of the thyroid. C cells are responsible for the production of calcitonin, a sensitive and specific marker for MTC. Early detection of MTC is essential; overall survival from MTC is related to patient age, stage of disease and extent of surgical resection. Elevated preoperative serum calcitonin levels have been shown to predict the likelihood of biochemical remission postoperatively. The use of routine serum calcitonin measurements as a screening measure for MTC in patients with thyroid nodules has been advocated in Europe. To date, routine calcitonin measurement has not been widely practiced in the USA; a recent cost–effectiveness analysis suggests routine serum calcitonin measurements in patients with thyroid nodules may be comparable to other widely accepted screening programs.
Medullary thyroid cancer in the past, present and future: from bench to bedside
Published in Expert Review of Endocrinology & Metabolism, 2011
Hari A Deshpande, Daniel Morgensztern, Julie Ann Sosa
The diagnosis and treatment of medullary thyroid cancer (MTC) has changed considerably over the past 40 years, although survival has not improved over the past three decades. From the first clinical descriptions of MTC and the multiple endocrine neoplasia syndromes to the identification of the RET proto-oncogene, the concept of prophylactic thyroidectomy has become a reality for some families. The surgery is usually performed by high-volume surgeons in specialized centers with results that rarely leave patients with complications but with maximum survival benefit. For patients with unresectable or metastatic disease, many new targeted agents have been developed, some of which have shown great promise and are close to being approved for a disease which hitherto has had no systemic treatment options. This article highlights the important advances in the diagnosis and management of MTC.
Related Knowledge Centers
- Calcitonin
- Parafollicular Cell
- Pheochromocytoma
- Thyroid Cancer
- Diarrhea
- Multiple Endocrine Neoplasia Type 2A
- Flushing