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Understanding Rare Cancers

12/23/2019

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talk-to-doctor-cancer-treatment

Although rare cancers don’t occur often, they can affect people of all ages and genders. Greater awareness of rare cancers may lead to earlier diagnosis and management, and potentially better survival rates. Consider these facts about soft tissue sarcomas, one type of rare cancer.


Understanding Rare Cancers

Four facts to know about one type of rare cancer, soft tissue sarcomas

(Family Features) Although rare cancers don’t occur often, they can affect people of all ages and genders.

A rare cancer is defined as fewer than 15 new diagnoses per 100,000 people per year, according to the National Cancer Institute (NCI). Additionally, as noted by the American Cancer Society (ACS), the 5-year survival rate is lower for people diagnosed with a rare cancer than for people living with more common cancers. Greater awareness of rare cancers may lead to earlier diagnosis and management, and potentially better survival rates.  

  1. There are more than 50 types of soft tissue sarcomas (STS). STS account for about 1% of all cancers and affect soft tissues such as muscle, fat, nerves, blood vessels and skin. Although STS can be found in any part of the body, they are often in the arms or legs, internal organs, the back of the abdominal cavity or in the trunk, head and neck area.

If you have recently been diagnosed with STS, it’s important to ask your doctor for more information about the specific sub-type you have. For example, if you received a diagnosis of undifferentiated sarcoma, ask your doctor for an integrase interactor-1 (INI1) test to see if you have a rare STS called epithelioid sarcoma (ES). (See sidebar for more on ES.)

  1. STS can be visible or invisible depending on location. STS may appear as painless bumps under the skin, usually on arms or legs. Some sarcomas begin in the abdomen and typically don’t show symptoms until they grow and press on nearby organs, nerves, muscles or blood vessels. When this occurs, symptoms may include pain and trouble breathing.
  1. Early diagnosis can help inform disease management. As with other types of cancer, early diagnosis of STS is key, as earlier treatment may result in more favorable outcomes. Because other conditions can cause similar symptoms, it’s important to check with your doctor if you are experiencing any of the warning signs listed above. If your doctor decides it’s best to “watch and wait,” consider developing a six-week follow-up plan in partnership with your health care team if your symptoms have not improved.
  1. Seeking care from a specialist is key. Given the rarity of STS, finding a sarcoma specialist who understands the complexity of this rare disease and can help determine which treatment option is best for you is important. Treatment options depend on multiple factors, including your overall health, the location and type of tumor, its size and whether the disease has spread elsewhere in the body. STS are typically treated with a combination of options including chemotherapy, radiation therapy and surgery. A specialist may also speak to you about participating in a clinical trial where investigational therapies in STS are being studied.

Learning More About Epithelioid Sarcoma

A rare type of STS, epithelioid sarcoma (ES) accounts for less than 1% of all STS, which themselves account for approximately 1% of all cancers, according to research published in “Archives of Pathology & Laboratory Medicine.” ES can present as a lump or sore on the skin.

Notably, more than 90% of ES tumors do not express the INI1 protein, which when present acts to suppress tumor growth. INI1 loss plays an important role in the diagnosis of ES, according to researchers with “The American Journal of Surgical Pathology.”

Data from the NCI indicates that approximately 150-200 people in the United States are diagnosed with ES each year. Research published in “The Journal of Clinical and Aesthetic Dermatology” found the disease often occurs in young adults in their 20s and 30s. Because most ES patients are adolescents and young adults, there is a gap in the unique psycho-social needs for this patient population, including resources for patients who miss school while undergoing treatments, as well as fertility considerations later in life.

If you or someone you love is living with ES, you can find resources, information and the real-life perspective of an ES survivor at ESsentialsforES.com.

 

Content courtesy of Epizyme, Inc.

Photo courtesy of Getty Images

SOURCE:
Epizyme

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Not all women with early-stage breast cancer benefit from chemo

10/28/2019

 
diane-sandoval
Diane Sandoval, Breast Cancer Survivor and Fighter

One in eight U.S. women will develop invasive breast cancer in their lifetime. The treatment of invasive breast cancer should be personalized because what is best for one woman may not be right for another. If you have breast cancer, it's important to take an active role in your health by learning about your available treatment options. An ongoing, collaborative discussion with your doctor is key in determining what treatment option best fits your individual needs.


(BPT) - As a commercial airline pilot with nearly 30 years of experience, Diane Sandoval, 50, is no stranger to making difficult decisions. However, she faced one of her toughest challenges not in the skies, but when she discovered a small lump in her left breast during a self-examination. Her worst fear was confirmed after a visit to her doctor when she was diagnosed with early-stage breast cancer.

Following an inconclusive mammogram and ultrasound, Sandoval learned she had several small tumors. She underwent a mastectomy to remove the tumors followed by breast reconstruction, putting her piloting career on pause.

The next big question was whether she should receive chemotherapy or not. Her physician recommended a genomic test — the Oncotype DX Breast Recurrence Score test. This tool has been proven to determine whether chemotherapy will be beneficial for individuals recently diagnosed with early-stage breast cancer. The test provides a personalized score based on the biology of the patient’s tumor that can help tailor treatment decisions for their individual cancer. Recent results from the largest breast cancer study ever conducted, called TAILORx, confirmed that the test clearly identified the 70 percent of women with early-stage breast cancer who receive no benefit from chemotherapy, as well as the remaining 30 percent of women for whom chemotherapy can be life-saving.

Sandoval is one of the nearly 1 million women who has put chemotherapy to the test with this genomic test. Her score confirmed that her risk of experiencing a breast cancer recurrence was low and she would not benefit from chemotherapy. As a result, she felt confident that she could forgo chemotherapy and its associated side effects. Subsequently, she was able to resume her career as a pilot and her active lifestyle.

She recently joined a campaign called “Put Chemo to the Test” to raise awareness of the Oncotype DX test and encourage women recently diagnosed with early-stage breast cancer to ask their doctor to order it before finalizing their treatment plan.

“I hope to help women with early-stage breast cancer better understand their treatment options by raising awareness of this test and how it can determine whether they are part of the majority of patients who may be spared chemotherapy and its well-known side effects or are among the important minority of patients who could receive life-saving benefit from chemotherapy,” said Sandoval.

One in eight U.S. women will develop invasive breast cancer in their lifetime. The treatment of invasive breast cancer should be personalized because what is best for one woman may not be right for another. If you have breast cancer, it's important to take an active role in your health by learning about your available treatment options. An ongoing, collaborative discussion with your doctor is key in determining what treatment option best fits your individual needs. Below are a few questions to ask your doctor:

  • What stage is my breast cancer and what are the chances of my cancer recurring (coming back) after surgery?
  • Can you order the Oncotype DX test to determine if I will benefit from chemotherapy?
  • What are my treatment options? What do you suggest for me and why?
  • What are the benefits of each treatment option? What are the drawbacks/side effects of each one?

Breast cancer patients and caregivers can visit ChemoYesorNo.org to download the full physician discussion guide and learn more about the test.

“I want women who were recently diagnosed with early-stage breast cancer to know that there is no one-size-fits-all treatment approach,” said Sandoval. “The test gave me the confidence I needed to forgo chemotherapy, which has allowed me to continue to enjoy my life with my husband. Ask your doctor to order this genomic test before finalizing your treatment plan.”


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Which breast-cancer patients will benefit from chemotherapy?

2/10/2019

 
breast-canncer-survivor
Angela, an early-stage breast cancer patient, used the test to inform her treatment.

While no two breast cancer patients — or their tumors — are alike, there is only one predictive genomic test to help doctors prescribe individualized treatment with definitive information about the benefit of chemotherapy. The test, which is covered by Medicare and most private health insurance providers, can help patients with early-stage breast cancer determine if they are among the approximately 70,000 women each year who can avoid chemotherapy and its unnecessary side effects while still receiving effective treatment.


(BPT) - New results from the largest ever clinical study of early-stage breast cancer patients are changing the game when it comes to who should receive chemotherapy treatment.

The study, called TAILORx (Trial Assigning Individualized Options for Treatment (Rx)), used the Oncotype DX Breast Recurrence Score® genomic test to determine exactly who will benefit from treatment with chemotherapy. Approximately 260,000 women are diagnosed with early-stage breast cancer each year in the U.S., and each of them must decide if chemotherapy is necessary to treat their disease or if they can be effectively treated with hormone therapy alone.

Published in The New England Journal of Medicine, the groundbreaking study clearly identified that 70 percent of women with early-stage breast cancer receive no benefit from chemotherapy and the minority of women for whom chemotherapy can be life-saving.

Dr. Ray Lin, co-director of the Breast Cancer Program at Scripps MD Anderson Cancer Center in San Diego and one of the principal investigators of the study, has been using the test to inform personalized treatment recommendations for breast cancer patients at his medical practice for several years. “The recent results, which studied more than 10,000 women, are changing the way that doctors around the world treat the disease by making regular use of the Oncotype DX test in breast cancer diagnosis and individualized treatment,” said Lin. With this new information, doctors can now provide patients with a clear yes or no recommendation about undergoing chemotherapy based on their genomic test score.

Used for early-stage breast cancer patients, the test assesses the level of activity of 21 cancer-related genes generating a Recurrence Score result — a number between 0 and 100.

A Recurrence Score result in the range of 0-25 means that cancer is less likely to come back if treated with hormonal therapy alone and that chemotherapy will not change the clinical outcomes in most patients over hormonal treatment. A Recurrence Score result in the range 26-100 suggests a greater risk that cancer will come back, and that chemotherapy is very likely to provide substantial benefit in reducing this risk in addition to hormone therapy.

At age 42, Angela was diagnosed with breast cancer after her annual mammogram. Following a mastectomy, her doctor recommended hormonal therapy and chemotherapy. She was hesitant to pursue chemotherapy after learning about its immediate side effects and potential long-term effects. As a mother of four, she was worried that chemo would inhibit her ability to care for her family and her parents, who relied on her. Then, her friend suggested she ask her doctor about the test to help her make a more informed decision about whether or not to undergo chemotherapy.

“My Oncotype DX score was a 22 and provided me with information I could count on to create an optimal treatment plan for my cancer, giving me increased confidence to forgo chemotherapy,” said Angela. She recommends checking out www.mybreastcancertreatment.org to learn more about her story and for patient-friendly resources on breast cancer diagnosis and treatment.

While no two breast cancer patients — or their tumors — are alike, there is only one predictive genomic test to help doctors prescribe individualized treatment with definitive information about the benefit of chemotherapy. The test, which is covered by Medicare and most private health insurance providers, can help patients with early-stage breast cancer determine if they are among the approximately 70,000 women each year who can avoid chemotherapy and its unnecessary side effects while still receiving effective treatment.
​
Patients and caregivers can visit http://www.mybreastcancertreatment.org/ to determine if they are eligible for the test and for resources to help explain treatment options and prepare for appointments.


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The Rarest of the Rare

1/24/2019

 

There is little information available about epithelioid sarcoma. Patients, advocates, doctors and researchers across the United States are aiming to educate people about this ultra-rare cancer and the unmet need for an effective, tumor-specific treatment. Consider these facts about ES.


The Rarest of the Rare

What to know about a cancer you may not have heard of

(Family Features) A woman celebrating her 40th birthday, a young boy starting second grade or a college grad about to begin his career. All three could develop a rare form of cancer known as epithelioid sarcoma (ES), a form of soft-tissue sarcoma.

There is little information available about ES. Patients, advocates, doctors and researchers across the United States are aiming to educate people about this ultra-rare cancer and the unmet need for an effective, tumor-specific treatment. Consider these facts about ES:

What are Soft-Tissue Sarcomas and What is Epithelioid Sarcoma?
Soft-tissue sarcomas (STS) are a type of cancer that occur in tissue like muscle, fat, skin, nerves and blood vessels. There are more than 50 types of STS, including ES, which is a rare form that can occur under the skin in the limbs (such as the arms, hands, legs or feet) or soft tissue in other places like the abdomen. Adults in their 20s and 30s and men, in particular, are more likely to get ES, although it can affect people of all ages and genders, according to research published in the Journal of Clinical and Aesthetic Dermatology.

How Rare is Rare?

According to the American Cancer Society, a rare cancer is defined as fewer than six new diagnoses per 100,000 people per year.

ES is an ultra-rare cancer. According to available epidemiology and case reports, it is estimated about 600 people are properly diagnosed in the U.S. and Europe each year.

What are the Most Common Types of ES and How Do They Impact Diagnosis?
ES can take two forms:
Distal-type: Classic form, typically affects teenagers and young adults.

  • Typically forms under the skin in areas like hands, legs and feet.
  • Can be mistaken for another skin condition like an infected wart or a wound that won’t heal, which may delay diagnosis.
  • Proximal-type: Rarer form, mainly affects adults and is more aggressive.
  • Typically forms in central areas of the body like the abdomen.
  • Can be mistaken for menstrual cramps or an upset stomach, making identification and diagnosis more difficult.

Dealing with a Diagnosis?
Due to its rarity, harmless appearance in its initial stages and occurrence in young people, ES is often misdiagnosed, according to the Liddy Shriver Sarcoma Initiative. For this reason, the Sarcoma Foundation of America recommends checking often for lumps and bumps in places they shouldn’t be.

For people faced with a sarcoma diagnosis, it’s important to get a second opinion from a sarcoma specialist. These specialists have extensive knowledge of STS and can determine what form of sarcoma one may have, what stage it is and the best course of treatment. The specialist may confirm the diagnosis with a physical examination, a scan or a tissue sample (biopsy) of the area.

It’s common to feel a range of emotions after a diagnosis of ES, according to Clear View Health Partners, including:

  • Fear
  • Denial
  • Frustration
  • Anxiety
  • Hope that treatment will be successful
  • Determination to beat ES

What Treatment Options are Available?
Treatment options depend on a variety of factors, including the location of the tumor, tumor staging and whether the disease has metastasized or spread to other parts of the body.

For patients with early stage ES, many elect to have surgery to remove the tumor, which may precede or be followed by radiation therapy or chemotherapy treatment, according to the Journal of Clinical and Aesthetic Dermatology. If the cancer returns or spreads, a patient may undergo radiation therapy and chemotherapy. New treatment options are being studied through clinical research, which is why seeking a specialist in the field is important if one is faced with a diagnosis.

As with many cancers, early detection is important and can increase survival or successful treatment. Typically, the distal form of ES is associated with more favorable survival rates than the proximal form.

4 Things to Do to Address ES Today

1. Don’t ignore your bumps and lumps, see a doctor as soon as possible.

  • curesarcoma.org/patient-resources/sarcoma-infographic/  

2. Learn more about epithelioid sarcoma and its symptoms.

  • mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420

3. Seek a second opinion.

  • sarctrials.org/sarc-centers-map

4. Find support if you’re faced with a diagnosis.

  • sarcomaalliance.org/resources/support-groups
  • cancersupportcommunity.org
  • cancercare.org/counseling

An ES Diagnosis Journey

In the spring of 2008, Maria Voermans’ 4-year-old daughter requested an “airplane ride,” and as Voermans lifted the young girl up with her legs, she had to make an “emergency landing” because of some sudden and significant pain in her upper right thigh.

After a few months, the pain persisted. Voermans continued to jog and play sand volleyball, thinking nothing of it. At the recommendation of her primary care physician, she took some anti-inflammatories and tried to rest, which wasn’t easy to do as a single mother of two young children.

Two more months went by and her leg caused increasing problems. She could feel something in her leg, but never considered it a “lump” because it was not visible on the outside. Voermans took matters into her own hands and visited a sports medicine orthopedic specialist for further testing.

An MRI found a mass in her right leg and she was referred to one of the few musculoskeletal oncologists in Wisconsin, her home state. He ordered a biopsy, which on Voermans’ youngest daughter’s third birthday confirmed her worst fear: it was a rare form of cancer called proximal-type epithelioid sarcoma, and it was stage three. Her biggest concern was not living to experience future holidays, birthdays, graduations and other life milestones with her daughters.

Voermans underwent chemotherapy, radiation therapy and had surgery to remove the tumor. As of July 2018, Voermans reports the cancer has not returned.

Today, she’s a wellness coordinator supporting other people diagnosed with cancer who are undergoing treatment or post-treatment. She’s able to use her own cancer journey to provide empathy to others, and it’s brought satisfaction to the whole experience.

Content courtesy of Epizyme, Inc.

Photo courtesy of Getty Images (Doctor talking to man)

SOURCE:
Epizyme, Inc.

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