medullary thyroid carcinoma

Medullary thyroid carcinoma (MTC) is a rare type of cancer that originates from the parafollicular cells, or C cells, of the thyroid gland [12][13]. These C cells are responsible for producing and releasing calcitonin, a hormone that plays a crucial role in regulating calcium levels in the body [9][14].

MTC is characterized by its unique ability to produce calcitonin, which can be used as a biomarker for diagnosis and monitoring of the disease [12][13]. The cancer cells in MTC are often round, plasmacytoid, polygonal, or spindle-shaped, and can form nests, cords, or follicles [10].

According to various sources, medullary thyroid carcinoma makes up about 5% of all cases of thyroid cancer and is distinct from the more common papillary and follicular thyroid cancers [6]. MTC is also known to be associated with certain genetic syndromes, such as MEN 2A or 2B, familial medullary thyroid carcinoma (FMTC) syndrome, von Hippel-Lindau disease, or neurofibromatosis [10].

The symptoms of MTC can vary, but may include a visible lump (nodule), difficulty swallowing, hoarseness, enlarged lymph nodes that do not go away, bone pain, difficulty breathing, diarrhea or constipation, and enlargement of the thyroid gland [5][8].

Medullary thyroid carcinoma (MTC) can manifest in various ways, depending on its stage and location within the thyroid gland. Here are some common signs and symptoms associated with MTC:

• Lump or nodule: A painless lump or nodule is often the first sign of MTC, typically appearing in the front of the neck (3). This lump can be small and may not cause any discomfort initially.
• Neck swelling: As the tumor grows, it can cause swelling in the neck, which can worsen quickly and lead to difficulty breathing and swallowing (7).
• Hoarseness or voice changes: The growing tumor can block the vocal chords, causing hoarseness or changes in voice (5).
• Difficulty swallowing: A large nodule can compress the esophagus, making it difficult to swallow food or liquids (2).
• Pain: Some patients may experience pain in the neck, jaw, or ear due to advanced MTC (2).
• Breathing difficulties: As the tumor grows and compresses the windpipe, breathing difficulties can occur (2).
• Swollen lymph nodes: Lymphadenopathy (swollen lymph nodes) can be present in some cases (1).

It's essential to note that not all patients with MTC will experience these symptoms, especially if the cancer is caught early. If you're experiencing any of these signs or symptoms, it's crucial to consult a healthcare professional for proper evaluation and diagnosis.

References: [1] Apr 28, 2022 — A nodule (lump) on the upper part of your thyroid gland (75% to 95% of people have this at diagnosis). · Swollen lymph nodes (lymphadenopathy) in ... [2] Patients with advanced MTC may complain of pain in the neck, jaw, or ear. If a nodule is large enough to compress the windpipe or the esophagus, it may cause ... [3] Jul 19, 2018 — The first sign of it is usually the appearance of a painless lump in the front of a person's neck. If caught early, this cancer is often very treatable. [5] Feb 27, 2019 — MTC can start as a lump in the throat. The tumor growing in the thyroid can make your voice hoarse by blocking your vocal chords or it can make ... [7] Jan 5, 2024 — It can cause severe signs and symptoms, such as neck swelling that worsens very quickly and may lead to difficulty breathing and swallowing.

Medullary thyroid carcinoma (MTC) can be diagnosed using various diagnostic tests, which are crucial for accurate diagnosis and treatment planning.

Blood Tests

• Calcitonin: Elevated calcitonin levels are a hallmark of MTC. Blood tests for calcitonin can help detect the presence of this hormone in patients with suspected MTC [6][9].
• Carcinoembryonic antigen (CEA): CEA is another tumor marker that can be elevated in patients with MTC. Blood tests for CEA can also aid in diagnosis and monitoring of the disease [5][9].

Imaging Tests

• Ultrasound: Ultrasound imaging can help identify nodules or tumors on the thyroid gland, which may indicate MTC [8].
• Fine-needle aspiration (FNA): FNA is a minimally invasive procedure that involves inserting a thin needle into the thyroid nodule to collect cells for further examination. This test can help confirm the diagnosis of MTC [4][12].

Other Diagnostic Tests

• Imaging procedures: Other imaging procedures, such as computed tomography (CT) or magnetic resonance imaging (MRI), may be used to evaluate the extent of disease spread and plan treatment [3][13].
• Genetic testing: Genetic testing can help identify individuals with a family history of MTC or other related conditions, which can aid in early detection and diagnosis [11].

Diagnostic Workup

The diagnostic workup for MTC typically involves a combination of these tests. A thorough evaluation by an experienced healthcare provider is essential to ensure accurate diagnosis and treatment planning.

References:

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Medullary thyroid carcinoma (MTC) has several differential diagnoses, which are conditions that can mimic MTC in terms of clinical presentation and diagnostic features. Here are some of the key differential diagnoses for MTC:

• Primary paraganglioma of the thyroid gland: This is a rare tumor that arises from the parafollicular cells of the thyroid gland, similar to MTC. However, primary paragangliomas tend to be more aggressive and have a higher rate of metastasis.
• Intrathyroidal thymic neuroendocrine neoplasms: These are tumors that arise from the thymus gland but are located within the thyroid gland. They can mimic MTC in terms of clinical presentation and diagnostic features.
• Metastatic neuroendocrine tumors to the thyroid: Neuroendocrine tumors, such as carcinoids or small cell lung cancer, can metastasize to the thyroid gland and mimic MTC.
• Hürthle cell neoplasia: This is a rare tumor that arises from the parafollicular cells of the thyroid gland. It can mimic MTC in terms of clinical presentation and diagnostic features.

These differential diagnoses are important to consider when diagnosing MTC, as they can have different treatment approaches and prognoses [6][12]. A thorough evaluation of the patient's clinical presentation, imaging studies, and histopathological features is necessary to distinguish MTC from these differential diagnoses [13].

In particular, it's essential to rule out primary paraganglioma of the thyroid gland, as it can have a more aggressive course than MTC. Additionally, intrathyroidal thymic neuroendocrine neoplasms and metastatic neuroendocrine tumors to the thyroid should be considered in the differential diagnosis, especially if the patient has a history of cancer or is presenting with symptoms suggestive of these conditions [12].

A multidisciplinary approach involving endocrinologists, surgeons, pathologists, and radiologists is crucial for accurate diagnosis and management of MTC and its differential diagnoses.