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How Many Mutations Cause Thyroid Cancer

Radioactive Iodine Therapy For Thyroid Cancer

Dr. Umamaheswar Duvvuri on Impact of Multiple Genetic Mutations in Advanced Thyroid Cancer

Radioactive iodine is also known as I-131. This radioactive iodine is taken in the form of capsule or liquid and it adds to the thyroid cells in the body. This can destroy the thyroid cells which are not removed during surgery near the thyroid gland and also anywhere else in the body.

This is the preferred way for thyroid cancer which has spread to distant parts of the body. The survival rates are improved with radioactive iodine for papillary or follicular thyroid cancer that expands to the neck or other body parts.

High levels of thyroid-stimulating hormone in the patients blood make this therapy more effective. If the level is low in the blood, it is increased by certain methods such as injecting TSH or by inhibiting the intake of hormone pills that forces the pituitary to release TSH, etc for better treatment.

Risks and side effects of radioactive-iodine therapy

A few side effects of RAI therapy may include:

  • Swelling and tenderness of the salivary glands
  • RAI therapy leads to reduction in tear formation in some people which causes dry eyes
  • Some studies suggest that risk of developing leukemia is slightly increased.

What Is The Follow

Periodic follow-up examinations are essential for all patients with thyroid cancer because the thyroid cancer can returnsometimes several years after successful initial treatment. These follow-up visits include a careful history and physical examination, with particular attention to the neck area. Neck ultrasound is an important tool to view the neck and look for nodules, lumps or cancerous lymph nodes that might indicate the cancer has returned. Blood tests are also important for thyroid cancer patients. Most patients who have had a thyroidectomy for cancer require thyroid hormone replacement with levothyroxine once the thyroid is removed . The dose of levothyroxine prescribed by your doctor will in part be determined by the initial extent of your thyroid cancer. More advanced cancers usually require higher doses of levothyroxine to suppress TSH . In cases of minimal or very low risk cancers, its typically safe to keep TSH in the normal range. The TSH level is a good indicator of whether the levothyroxine dose is correctly adjusted and should be followed periodically by your doctor.

In addition to routine blood tests, your doctor may want to repeat a whole-body iodine scan to determine if any thyroid cells remain. Increasingly, these scans are only done for high risk patients and have been largely replaced by routine neck ultrasound and thyroglobulin measurements that are more accurate to detect cancer recurrence, especially when done together.

Diagnosis Of Thyroid Cancer

The diagnostic accuracy for thyroid nodules that are otherwise diagnostically indeterminate by conventional cytology assessment is improved by the search for genetic markers in Spell it out Fine needle aspiration biopsy samples, including BRAF mutation, RAS mutations, RET-PTC and PAX8-PPAR rearrangements. More recently the diagnostic performance of this strategy was further improved by the use of Next-generation sequencing . Also, the use of a gene-expression classifier permits to rule out malignancy in half of the nodules with indeterminate cytology results . The differentiation of radiation induced thyroid tumors from thyroid tumors occurring in the absence of radiation exposure may benefit from mutation analysis. Rearrangements are more frequently and point mutations less frequently found after radiation exposure. Also the study of the expression of a panel of genes helps in this differentiation.

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Driver Gene Mutations Verified By Direct Sanger Sequencing

The novel identified driver genes and their mutation types in the 11 pairs tissues specimens were shown in Fig. 5. In addition, 12 of the mutational genes including FAM133A, DPCR1, GPRASP1, C10orf10, POLR2D, C4orf3, N4BP2L1, PCMTD2, CCBE1, EPB41L3, JAK1, IWS1 were verified by direct Sanger sequencing method. Among them, the mutations of FAM133A, DPCR1, JAK1, C10orf10, EPB41L3, GPRASP1, and IWS1 exhibited in multiple thyroid cancer specimens. Furthermore, the genes might present distinct alterations in different tissues specimens. For instance, in R17 case, FAM133A exhibited a mutation of G> A at the position of 92964956, while in R16 case a substitution of A> C at the position of 92964970 was observed in the gene. The detailed information of individuals mutations of the 12 genes in the 11 tissues specimens were summarized in Table 3.

Table 3.

Summary of the individuals mutations and altered proteins in the 11 thyroid cancer specimens verified by direct Sanger sequencing. *, represented stop codon which was caused by stopgain mutation

Fig. 5.

The distribution of the novel driver gene mutations in each case. A total of 64 novel altered genes were identified by WES in the 11 pairs of PTC tissue specimens. The left of the figure described the variant numbers of the somatic mutations in each case. The middle of the figure described the mutational types in different cases.

The State Of Hashimotos And Thyroid Conditions 30 Years After The Radioactive Spillage

Hereditary mutations in cancer: the use of panels and ...

On April 26th 1986, one of the reactors at the Chernobyl Nuclear Power Plant exploded. One of the nuclear power plant reactors blew up, releasing large amounts of radiation into the atmosphere. Over 100 radioactive elements were scattered over parts of Ukraine, Belarus, Russia, and a wide area of Europe . Because of the massive contamination, 200,000 people were evacuated and the area around the nuclear plant is unlivable .

An increase in thyroid disorders was one of the most common health problems in areas affected by the Chernobyl radioactive fallout .

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What Are The Screening Options For Cs

It is important to discuss with your doctor the following screening options, as each person is different. At the time of diagnosis:

  • People with CS of all ages: an annual thyroid ultrasound scan and an annual skin exam.

Starting at age 30:

Starting at age 40:

Preventive surgery:

  • Women with CS: The preventive removal of the breasts before cancer develops through a surgery called a prophylactic mastectomy may be considered. In addition, there can also be the preventive removal of the womans uterus, called a prophylactic hysterectomy.

Lifetime Cancer Risks in Individuals with Germline PTEN Mutations Clin Cancer Res. 2012 January 15 18: 400407. andNational Comprehensive Cancer Network.

Surveillance, which means close medical monitoring, may begin 5 to 10 years earlier than the youngest person diagnosed with a specific cancer in the family, but should begin no later than the ages noted above. The frequency of scheduled colonoscopies may increase based on how many polyps are found.

Screening options may change over time as new technologies are developed and more is learned about CS. It is important to talk with your health care team about appropriate screening tests.

Inherited Genes And Cancer Types

Some people have inherited gene faults that increase their risk of developing particular types of cancer. Some gene faults can increase the risk of more than one type of cancer.

If a close member of your family has had one or more of the types of cancer mentioned below you may like to read the relevant information.

Tests are available for some gene faults but not all of them.

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Surgery For Thyroid Cancer

Surgery is the primary treatment for every type of thyroid cancer. Another term used for surgery is resection. Either complete thyroid gland is removed or a part of the thyroid gland is removed. Fine needle aspiration biopsy method is used for the detection of thyroid cancer.

Surgical procedures for thyroid cancer treatment are:


Lobectomy is used as a treatment for papillary or follicular thyroid cancer. These types of cancers affect the nearby parts or organs. The thyroid gland with the cancerous nodule is removed by making a small cut or incision on the neck.

Lobectomy is also used as a diagnostic method when FNA fails to detect thyroid cancer.

The advantage of Lobectomy is that at times few patients might not require thyroid hormone pills because a part of the gland is left behind which continues to produce thyroid hormones with the help of pituitary gland.


Thyroidectomy is also another surgical method to remove the thyroid gland. If the complete gland is removed, it is called total thyroidectomy. If only a small part of the gland is left, it is called as near-total thyroidectomy. If only some part of the gland is removed, it is called as sub-total thyroidectomy.

There are different surgical techniques for thyroidectomy:

Standard thyroidectomy: Standard thyroidectomy is a normal procedure of surgery where the thyroid gland is removed directly by making an incision in the neck.

Removal of Lymphnodes

Risks and side effects of thyroid surgery

Medullary Thyroid Cancer Is Sometimes Caused By A Change In A Gene That Is Passed From Parent To Child

Exploring Current Therapies for Thyroid Cancer With NTRK Mutations

The genes in cells carry hereditary information from parent to child. A certain change in the RET gene that is passed from parent to child may cause medullary thyroid cancer.

There is a genetic test that is used to check for the changed gene. The patient is tested first to see if he or she has the changed gene. If the patient has it, other family members may also be tested to find out if they are at increased risk for medullary thyroid cancer. Family members, including young children, who have the changed gene may have a thyroidectomy . This can decrease the chance of developing medullary thyroid cancer.

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Familial Tumor Syndromes Characterized By A Preponderance Of Non

Familial adenomatous polyposis

FAP is an inherited autosomal dominant syndrome caused by germline mutations in the adenomatous polyposis coli gene on chromosome 5q21, characterized by hundreds of adenomatous colonic polyps that develop during early adulthood. Extracolonic manifestations in FAP include osteomas, epidermal cysts, desmoid tumors, upper gastrointestinal tract polyps hamartomas, congenital hypertrophy of the retinal pigmented epithelium , hepatoblastomas, and thyroid tumors. PTC is one of the extracolonic manifestations of FAP, and occurs in approximately 2% of patients., , Young women with FAP are at particular risk of developing thyroid cancer, and their chance of being affected is approximately 160 times higher than that of normal individuals PTC occurs with a frequency of about 10 times greater than that expected for sporadic PTC.

Figure 6

Histopathology of cribriformmorular thyroid carcinoma in a patient with familial adenomatous polyposis HE -catenin .

We suggest an algorithmic approach for a diagnostic and management of enlarged and multinodular thyroid with multifocal CMvPTC .

Figure 7

PTEN-hamartoma tumor syndrome

Figure 8

Most studies have failed to show a consistent genotypephenotype relationship in PHTS. Careful phenotyping gives further support for the suggestion that BRRS and CS are actually one condition, presenting at different stages. Our study has confirmed these observations.

Figure 10

Carney’s complex

Werner’s syndrome

Thyroid Cancerrisks And Causes

Oncology & Hematology Review, 2014 10:14451


The incidence of thyroid cancer has almost doubled in recent years and over 60,000 people will be diagnosed in the US in 2015. While theprognosis for most such patients is excellent, a significant proportion die of thyroid cancer from local tumor progression and above all frommetastases. Here we review the different types of thyroid cancers and their molecular changes with a special emphasis on the currently knownsusceptibility and precipitating factors. With the recent clinical introduction of tyrosine kinase inhibitors for the treatment of metastatic thyroidcancer it is clear that a simple cure is not at hand and further understanding of the molecular mechanisms of these tumors is urgently needed.


Thyroid, cancer, follicular, papillary, anaplastic, mutations, gene fusions, susceptibility genes, radioiodine, TSH, autoimmunity, nodules, EMT

Article Information:

Simon Bonnefond, MD, and Terry F Davies, MD, FRCP, FACE have no conflicts of interest to declare. No funding was received in the publication of this article.



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Healthy Lifestyle After Thyroid Cancer Treatment: How Can A Patient Lower The Risk Of Cancer From Coming Back

The most important thing for a thyroid cancer patient, after the treatment is over, is to maintain a healthy lifestyle for oneself.

Exercising regularly improves the physical and emotional health of the cancer patient:

  • It improves the cardiovascular fitness.
  • It makes body muscles stronger.
  • Fatigue is reduced which ensures high energy.
  • Anxiety and depression are reduced.
  • It makes the patient feel happier and better about the improving condition of his lifestyle.
  • Along with a good diet, it will help you get to and stay at a healthy weight.

Eating a certain type of diet with raised nutritional supplements lowers the risk of infections and diseases in the body. The intake of alcohol and tobacco should be cut down during and after the treatment of thyroid cancer.

Physical Examination For Thyroid Cancer Diagnosis

Inherited Mutations and Cancer
  • The first symptom of thyroid cancer is supposed to be the appearance of lumps or bumps in the neck which is visible near the Adams apple.
  • The unusual growth in the neck, throat or lymph nodes is examined whether it is benign or malignant.
  • Enlarged thyroid can be seen through ultrasound. The detection of the enlarged lump, that leads to goiter and then to adrenal cancer, is done through ultrasound.
  • Laryngoscopy is done to check the larynx . If something is stuck in the throat causing blockage, redness, swelling or any other problem, laryngoscopy helps to detect and eradicate the problem.

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Current And Future Clinical Applications

Significant advances in the understanding of TC biology, coupled with advances in high-throughput technologies, are contributing to the development of novel diagnostic, prognostic, predictive, and therapeutic tools for TC patients.

Most efforts have been made in the development of molecular tests for cancer diagnosis in thyroid nodules. Panels of gene expression markers or somatic mutation panels have improved the pre-operative diagnostic accuracy for patients with indeterminate cytology by addressing the problem of unnecessary surgery for benign thyroid nodules. Much effort should be done in order to pre-operatively identify a subset of aggressive cancers or to increase positive predictive value in some tumor subtypes .

Furthermore, miR-221-3p and miR-146a-5p blood levels in PTC patients have been shown to predict clinical responses, with significantly increased levels observed at the 2 year follow-up in patients with structural evidence of disease, including some in which serum thyroglobulin assays remained persistently negative .

Realization of this enormous potential will depend on our ability to develop standardized methods for detection of circulating biomarkers and to validate their performance in clinical setting.

Q& a: Anaplastic Thyroid Cancer

If you or a loved one has been diagnosed with anaplastic thyroid cancer, it may be hard to find others whove received the same diagnosis. Thats because anaplastic thyroid cancer is only diagnosed in about 500 to 800 patients in the United States each year — most age 60 or older.

And, because anaplastic thyroid cancer is extremely rare, theres limited reliable information on this disease.

To help, we spoke with Below, she explains the basics of anaplastic thyroid cancer diagnosis and discusses the latest treatment advances.

How is anaplastic thyroid cancer diagnosed?

Anaplastic thyroid cancer is typically diagnosed by removing and examining a small sample of a patients tissue, known as a biopsy. But because biopsied cells can appear in a variety of shapes and forms, diagnosis can be difficult and often inaccurate.

The pathology report may not always use the words anaplastic thyroid cancer. If you see another term, such as undifferentiated, dedifferentiated, sarcoma of the thyroid, sarcomatoid, squamous, spindle cell or giant cell on the report, you may want to seek a second opinion from an thyroid cancer expert before starting treatment.

How is anaplastic thyroid cancer typically treated?

What causes anaplastic thyroid cancer?

Some genetic mutations in the tumor can cause cells to grow out of control, leading to cancer. Anaplastic thyroid cancer patients commonly have the BRAF, RAS, p53 and PI3K mutations.

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Complications Of Thyroid Cancer

Thyroid cancer that comes back

Despite treatment, thyroid cancer can return, even if youve had your thyroid removed. This could happen if microscopic cancer cells spread beyond the thyroid before its removed.

Thyroid cancer may recur in:

  • Lymph nodes in the neck
  • Small pieces of thyroid tissue left behind during surgery
  • Other areas of the body

Thyroid cancer that recurs can be treated. Your doctor may recommend periodic blood tests or thyroid scans to check for signs of a thyroid cancer recurrence.

Thyroid Nodules Are Common But Usually Are Not Cancer

Why Do People Get Thyroid Cancer? | Masha Livhits, MD, and Yasmine Assadipour, MD | UCLAMDChat

Your doctor may find a lump in your thyroid during a routine medical exam. A thyroid nodule is an abnormal growth of thyroid cells in the thyroid. Nodules may be solid or fluid-filled.

When a thyroid nodule is found, an ultrasound of the thyroid and a fine-needle aspiration biopsy are often done to check for signs of cancer. Blood tests to check thyroid hormone levels and for antithyroid antibodies in the blood may also be done to check for other types of thyroid disease.

Thyroid nodules usually don’t cause symptoms or need treatment. Sometimes the thyroid nodules become large enough that it is hard to swallow or breathe and more tests and treatment are needed. Only a small number of thyroid nodules are diagnosed as cancer.

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Risk Factors For Thyroid Cancer: Are You At An Increased Risk For Thyroid Cancer

Risk factors state the chances of developing a cancer . These are external reasons which increase the probability of development of cancer.

Following are the risk factors that increase the chances of development of thyroid cancer:

Gender and Age

Generally, more women are diagnosed with thyroid cancer than men. The reason for this is still unknown.

Thyroid cancer generally occurs in middle-aged people. Women in their 40s-50s and men in their 60s-70s are more commonly affected by it.

Exposure to ionizing radiation

Exposure to ionizing radiation is age-dependent. The lower the age while a person is exposed to radiations, the higher is the risk of thyroid cancer. Certain imaging tests on children raise the chances of thyroid cancer. A regular exposure to radiations increases the risk of thyroid cancer. Therefore, ionizing radiations of low intensity are used in imaging scans.

The exposure of neck or head to high level of radiations due to radioactive fallout from power plant accidents or nuclear weapons and due to certain medical treatments can also increase the risk of thyroid cancer. For example, a nuclear plant accident took place in 1986 in Chernobyl. For several years, adults and children who lived near the area got highly affected by the radioactive radiations. The children were given iodine rich diet to lower the risk of thyroid cancer.

Papillary cancer is more prominent and a common type of thyroid cancer due to ionized radiations.

Iodine low diet


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