Wednesday, April 10, 2024

Is Anaplastic Thyroid Cancer Hereditary

What Is The Prognosis For Someone With Anaplastic Thyroid Cancer

Understanding Anaplastic Thyroid Cancer: Maria E. Cabanillas, M.D.

The estimate of how a disease will affect you long-term is called prognosis. Every person is different and prognosis will depend on many factors, such as:

  • Where the tumor is in your body
  • If the cancer has spread to other parts of your body
  • How much of the tumor was taken out during surgery

If you want information on your prognosis, it is important to talk to your doctor. NCI also has resources to help you understand cancer prognosis.

Doctors estimate ATC survival rates by how groups of people with ATC have done in the past. Because there are so few ATC patients, these rates may not be very accurate. They also dont consider newer treatments being developed. ATC is one of the fastest growing cancers, with only half of people with ATC surviving 6 months after diagnosis. It is very important to work with a team of experts as soon as possible after diagnosis to improve your chances of survival. You can contact MyPART for help connecting with experts in ATC.

As scientists learn more about how ATC forms, new treatments will continue to be tested.

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Thyroid Cancer Risk Factors

A risk factor is anything that increases a persons chance of getting a disease such as cancer. Different cancers have different risk factors. Some risk factors, like smoking, can be changed. Others, like a persons age or family history, cant be changed.

But risk factors dont tell us everything. Having a risk factor, or even several risk factors, does not mean that you will get the disease. And many people who get the disease may have few or no known risk factors. Even if a person with thyroid cancer has a risk factor, it is very hard to know how much that risk factor may have contributed to the cancer.

Scientists have found a few risk factors that make a person more likely to develop thyroid cancer.

What Causes Thyroid Cancer

Thyroid cancer is linked with a number of inherited conditions , but the exact cause of most thyroid cancers is not yet known.

Certain changes in a persons DNA can cause thyroid cells to become cancerous. DNA is the chemical in each of our cells that makes up our genes the instructions for how our cells function. We usually look like our parents because they are the source of our DNA. But DNA affects more than just how we look. It also can influence our risk for developing certain diseases, including some kinds of cancer.

Some genescontain instructions for controlling when our cells grow and divide into new cells or when they die.

  • Certain genes that help cells grow and divide or make them live longer than they should are called oncogenes.
  • Genes that slow down cell division or make cells die at the right time are called tumor suppressor genes.

Cancers can be caused by DNA changes that turn on oncogenes or turn off tumor suppressor genes.

People get 2 copies of each gene one from each parent. We can inherit damaged DNA from one or both parents. Most cancers, though, are not caused by inherited gene changes. In these cases, the genes change during a persons life. They may occur when a cells DNA is damaged by something in the environment, like radiation, or they may just be random events that sometime happen inside a cell, without an outside cause.

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Treating Anaplastic Thyroid Cancer

Shortly after his first appointment at MD Anderson, Hernandez got a call that would turn his story around. A new study was in the works at MD Anderson.

The primary investigator is the institutionâs Dr. Mark Zafereo, professor of Head and Neck Surgery. He also serves as section chief of Head and Neck Endocrine Surgery and associate medical director of the Head and Neck Center.

Hernandezâs tumor had the specific genetic profile to make him a candidate for the trial â a BRAF mutation, which is found in 10 to 50 percent of anaplastic thyroid cancers.

While anaplastic thyroid cancer is rare, MD Anderson still sees a number of patients with the condition, sometimes even one to two a week, Zafereo said.

In the past, he said, the prognosis would always be dismal, unlike other thyroid cancers that could be easily treated.

âThis is a completely different ball game,â Zafereo said. âItâs so fast-growing that by the time a patient goes to see a specialist, a major operation is very difficult or impossible.â

The tumor would grow so quickly and take away a patientâs ability to eat, speak and breathe â and then metastasize to other parts of the body.

âItâs a life-threatening and scary situation for patients,â Zafereo said. âAs of even about five years ago, patients had about a three-month survival rate.â

He and his colleagues were working to change those odds.

The only issue is that the disease would start growing again.

Medullary And Anaplastic Thyroid Carcinoma

Genetic alterations in anaplastic thyroid carcinoma and targeted ...

The following 5-year survival rates for patients with anaplastic thyroid cancer and medually cancer apply on average :

  • Medullary carcinoma: 60-70%
  • Anaplastic carcinoma: about 5 %

Did you know you can test for thyroid hormone levels at home? Learn more in our article about at home thyroid tests.

You can also see our posts in the Genetic Cancer Testing series and explore the Nebula Research Library to learn about hundreds of other conditions influenced by genetics, including many cancers.

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Poorly Differentiated Thyroid Cancer

The frequency of molecular mutations in PDTC is not the same in all studies, and this can be related not only to the sensitivity of the molecular technique used to ascertain the molecular pattern but also to the histological criteria used to define the PDTC. Indeed, two main classifications for PDTC exist: Turin and MSKCC criteria . BRAF mutations are found in 19% â33% of PDTC, while H-, K, and NRAS mutations were found in 5% â28% of cases . BRAFV600E was found to be more frequent in PDTC when defined following the MSKCC criteria, while RAS mutations are more common in PDTC fulfilling Turin definition . Moreover, BRAF and RAS are mutually exclusive and correlate with a different clinical behavior: BRAF-mutated PDTCs were found to have a higher rate of nodal metastases vs. a higher rate of distant metastases found in RAS-mutated PDTCs. Furthermore, the expression of thyroid-specific genes related to radioiodine avidity was found to be lowered in BRAF-mutated PDTCs, but not in their RAS mutated counterparts .

Another substantial difference in thyroid advanced tumors compared to PTC is in the chromosome number variation. The genome of PTC is largely diploid, while in PDTC and ATC, chromosome copy number alterations are widespread and more frequent in those tumors lacking a driver gene mutation . Gene rearrangements common in PTC may be found in 14% of PDTC , but are absent in ATC .

Types Of Thyroid Cancer

The type of cancer is determined by which type of cells are growing out of control. This is important to know as it helps establish how serious the cancer is and the best course of action for treatment.

Most tumors in the thyroid gland are benign. The malignant ones can spread to other parts of the body.

Examples of benign tumors are:

  • Goiter is a condition in which the thyroid gland enlarges, either as a whole or with small nodules in it. There are several reasons that may cause enlargement of the gland, and most of them are not cancer. One common reason for getting a goiter is a lack of iodine in the diet.
  • Thyroid nodules, lumps, or bumps are usually not cancerous. Instead, these nodules tend to over-produce TH and produce hyperthyroidism.

The main types of thyroid cancers are:

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Anaplastic Thyroid Cancer: What Is Known About Their Associated Genetic Mutations

Anaplastic thyroid cancer genetic abnormalities are rapidly becoming well identified following the human genome project and the cancer genome project.

  • Anaplastic thyroid cancer and its variants commonly reveal RAS mutations or PAX8/PPAR gamma rearrangements. But importantly, these mutations can be found in benign hurthle cell and other thyroid tumors as well.
  • Aggressive anaplastic thyroid cancer variants are potentially suggested by mutations of multiple genes and combinations of genes. These include the p53, PI3kinase, BRAF, PTEN, TERT, RAS genes and many more. We have been involved in some of this ground breaking research. One thing we do know is that the number and variability of mutation events in the genes of anaplastic thyroid cancer occur much more frequently and variable than the more favorable papillary and follicular thyroid cancers. To date, identifying these mutations does not translate to any specific treatment approaches with the exception of the BRAF gene. is an educational service of the Clayman Thyroid Center, the world’s leading thyroid surgery center operating exclusively at the new Hospital for Endocrine Surgery.

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Why Genetic Testing For Thyroid Cancer

Anaplastic and Hurthle cell thyroid cancer Whats new with Dr Lorch 215

The exact cause of most of these cancers is yet unknown. Most people who develop a form do not have a family history or an inherited condition as a risk factor.

Changes in a persons DNA can trigger cells to become cancerous. These changes can cause cells to grow abnormally at a faster rate or turn off tumor suppressor genes. Although we may inherit damaged DNA from our parents, most cancers are not caused by them. Alterations in genes happen during a persons life and may be caused by environmental factors such as radiation or some random event inside the cell.

Genetic testing is recommended for people with a personal or family history of a specific type. For example, a condition known as multiple endocrine neoplasia type 2 is associated with medullary thyroid cancer. Individuals affected should get genetic testing. If a mutation is found in the RET gene of a person, their relatives should be genetically tested.

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What Causes Anaplastic Thyroid Cancer

The cause of anaplastic thyroid cancer is not known, but there are several risk factors that have been identified.

  • Previous thyroid cancer or enlargement: Most people diagnosed with anaplastic thyroid cancer also had another type of less aggressive thyroid cancer or an enlarged thyroid prior to developing ATC. It is not clear why these tumors increase the risk of developing ATC.
  • Radiation: A history of radiation exposure to the thyroid region is also among the risk factors associated with ATC.
  • Genetic mutations: There have been several genetic mutations identified in association with this disease. The genetic abnormalities identified in ATC are not believed to be hereditary and may develop at some point during life. There is no clear association between the genetic mutations found in ATC and disease prognosis, cause, or screening.

Stages Of Anaplastic Thyroid Cancer

As part of the diagnostic process, ATC is also staged. The disease is defined by how much it has invaded the body.

The stages of anaplastic thyroid cancer are:

  • Stage IVA: The cancer is only found in the thyroid gland.
  • Stage IVB: The cancer has spread outside the thyroid gland to other areas of the neck.
  • Stage IVC: The cancer is metastatic and has spread to distant areas of the body through the bloodstream.

ATC typically metastasize into the trachea, lymph nodes, lungs, and bones. In as many as 25% of cases, infiltration of the trachea is already present at the initial diagnosis of the condition.

The spread of ATC to the bones, lungs or brain is estimated to have already occurred in as many as 50% of cases by the time of ATC diagnosis.

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Rare Diseases In The Us

How are rare diseases defined?

  • A rare disease is any disease or condition which affects or directly impacts less than 200,000 people in the U.S.

How many people may have this disease?

  • In the U.S., this disease is estimated to be fewer than


How rare are rare diseases?

Rare diseases may be rare individually, but together affect more than 30 million people in the U.S. Patients and families impacted by different rare diseases face many of the same challenges. Working together, rare disease communities can improve the lives of all patients living with a rare disease.

Rare Disease Day at NIH

At the end of February each year, NCATS and the NIH Clinical Center sponsor Rare Disease Day at NIH as part of a global observance. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people living with them, the NIH research collaborations that are underway to address scientific challenges and to advance new treatments.

Treatment Of Advanced Carcinoma

Figure 1 from Anaplastic thyroid carcinoma: from clinicopathology to ...

Advanced carcinoma is defined as a thyroid carcinoma with distant metastases or a non-operable carcinoma. In this case, a complete cure is usually no longer possible. The aim of the therapy is to prolong life with the highest possible quality of life and to reduce thyroid tumor-related symptoms.

Several tyrosine kinase inhibitors , a type of targeted therapy, have been approved for metastatic differentiated cancer that no longer responds to radioiodine therapy, including sorafenib and lenvatinib. Cabozantinib and vandetanib are approved for advanced medullary cancer. Clinical trials for other drugs are ongoing.

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Anaplastic Thyroid Cancer: Genetics And Special Cases

Important- In Anaplastic thyroid, there is a growing literature about the genes that may be abnormal and we have been involved in some of the ground breaking research in this area. We have actively lead and been involved in this fundamental research in anaplastic thyroid cancer. If the anaplastic thyroid cancer has spread to distant sites in the body , genetic analysis is likely indicated to get a sense of what genetic events have occurred in the development of your anaplastic thyroid cancer and if some of these genetic events are targetable for determining which therapy may be best for the anaplastic thyroid cancer patient. This may give your anaplastic thyroid cancer team some potential targets to consider in establishing a personalized treatment approach for your anaplastic thyroid cancer.


Types Of Genetic Testing For Thyroid Cancer

There are a few commercially available genetic testing companies that test potentially dangerous nodules. The physician sends the nodule cells to these companies for genetic testing. This will help determine if the nodule is benign or malignant.

Quest Diagnostics

The objective of this company is to help physicians decide if there is a presence of thyroid cancer and if it needs surgical removal. This test consists of a panel with four gene markers:

  • BRAF Mutation Analysis, Papillary Thyroid Cancer
  • RAS Mutation Analysis, Thyroid Cancer
  • RET/PTC Rearrangement, Thyroid Cancer


NeoGenomics offers its molecular testing services to patients with the advanced condition. They perform this under The Thyroid Cancer Testing Program sponsored by Lilly Oncology, a company that provides financial assistance to patients.

Patients eligible for this testing must be 12 years or older and have any of the following:

  • Advanced or metastatic medullary thyroid cancer
  • Advanced or metastatic non-medullary thyroid cancer


This is one of the most well-known genomic tests of this type. Branded as ThyroSeq Genomic Classifier, it distinguishes between benign and cancerous thyroid nodules using a tiny sample. The test aims to help avoid unnecessary diagnostic surgery.

If the test is positive, the report provides valuable information about the nodule to help the patient and physician decide on a customized treatment plan.



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Cancer Free For Christmas

Once Hernandez came to MD Anderson, his care went into high gear the hospital offers the FAST, or Facilitating Anaplastic thyroid cancer Specialized Treatment, team to speed up care.

The broad multidisciplinary team includes oncologic endocrinologists, medical oncologists, radiation oncologists, pathologists, pulmonologists and head and neck endocrine surgeons.

âWe really make this disease a priority,â Zafereo said. âTime is of the essence when youâre talking about anaplastic thyroid cancer. It grows day by day.â

As soon as Hernandez showed the BRAF mutation, he was eligible for the trial. He started receiving chemotherapy on Nov. 5, 2021, treated by Dr. Steven Waguespack, oncologic endocrinologist

âHe had a rapid response to the drugs,â Zafereo said. âIt shrunk the tumor down.â

Then, he was eligible for an operation, which was scheduled for Feb. 2. He began radiation on Feb. 28 for six weeks.

Now, Hernandez is cancer free.

âGoing back to where we were five years ago, his life would have been limited to months,â Zafereo said. âItâs a major success story, and our entire team is so excited about the results.â

But Hernandezâs battle with anaplastic thyroid cancer is not over, the surgeon said. He still takes chemo drugs and undergoes immunotherapy every three weeks.

Last month, Hernandez was invited to the Gateway for Cancer Researchâs gala in Chicago as a guest of honor.

âHe got choked up,â Senft recalled.

Current And Future Clinical Applications

Thyroid Cancer (Papillary, Follicular, Medullary & Anaplastic) | Symptoms, Diagnosis, Treatment

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.

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