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.)

2. 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.

3. 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.

4. 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

There is No One-Size-Fits-All Breast Cancer

(Family Features) Breast cancer. It is a simple phrase representing a complex journey thousands of women travel each year. Even during October, when Breast Cancer Awareness Month brings attention to the disease, many people don’t realize breast cancer is not just one disease; it’s extremely complex and classified into different types. Understanding the many types of breast cancer is important – not just for the 1-in-8 women who will be diagnosed in their lifetime, – but for those who love them, too.¹

Laura Ross knows first-hand. She was diagnosed with triple-negative, stage I breast cancer when she was 41 years old.

“No one in my family had breast cancer and I had no information,” Ross said. “I had not even heard breast cancer had different types until the results came back from my biopsy.”

Unprepared and in shock, she relied heavily on her support circle, which in addition to her doctor and healthcare team, helped her learn more about her diagnosis. Empowered by this information, Ross had the confidence to make informed treatment decisions with her doctor.

You or someone you love may be affected by breast cancer in your lifetime and have to help make a treatment decision. To change the perception that breast cancer is just one disease, Living Beyond Breast Cancer, Genentech and ThirdLove created the “Not One Type” campaign, which offers these tips:

1. Understand the basics. Breast cancer is classified into different types based on the unique characteristics of each tumor (size, lymph node status, stage and subtype, among others). The tumor’s size, the status of whether the cancer is in the lymph nodes and the cancer’s stage, which indicates whether or not it has spread, are important factors in helping determine a diagnosis. The subtype, which is determined by studying the cancer cells using diagnostic tests, more specifically defines the type. Some common breast cancer subtypes include hormone receptor-positive, HER2-positive and triple-negative. These are example subtypes. A patient could also have a combination of subtypes, and/or other factors contributing to cancer growth.

2. Ask your doctor specific questions. If you or a loved one is faced with a diagnosis, knowing some questions to ask a doctor makes all the difference. Consider these questions to start:
   • How large is the tumor?
   • Has the cancer spread to the lymph nodes?
   • What is the stage?
   • What is the HER2 status? Hormone receptor status?
   • Why do you recommend this particular treatment plan? Are there other treatment options to consider?
   • Can you explain what these medicines do to the cancer in the body?
   • What are the common side effects of treatment?

3. Pass it on. Share this information with a loved one or friend. Understanding that breast cancer is not a one-size-fits-all-disease can help those directly affected by breast cancer and those who may be impacted in the future make more informed decisions.

During October – and year-round – arm yourself with knowledge about the different types of the disease and use that information to be a more empowered patient or caregiver. Visit NotOneType.org to learn more.

Photo courtesy of Getty Images

¹ American Cancer Society. Cancer Facts & Figures 2018. Atlanta: American Cancer Society; 2018.

² Kohler BA, et al. Annual Report to the Nation on the Status of Cancer, 1975–2011, Featuring Incidence of Breast Cancer Subtypes by Race/Ethnicity, Poverty, and State. J Natl Cancer Inst 2015;107(6):djv048.