It took a very experienced team of Oncologists and Radiologists almost 3 weeks to diagnose Elijah's cancer after his first biopsy, even after consulting with doctors from all over the United States. Why did it take so long ?
What is Epitheliod Sarcoma ?
Epithelioid Sarcoma (EpiS) is an extremely rare, slow growing and aggressive cancer with a generally poor prognosis. Epitheliod Sarcoma was only clearly defined in 1970, with a little over 500 total reported cases in the US since then. EpiS develops in the skeletal and connective tissue within the body, which includes bone, tendons, cartilage, muscle and fat. It is the only cancer that can occur absolutely anywhere within the body, literally from head to toe. The majority of cases are found within the distal extremities, such as hands, arms, feet and legs. Elijah's initial tumor was located in the cervical vertebrae at the top of his spinal column, just below his brain stem.
Epitheliod Sarcoma is divided into proximal and distal subtypes, with the proximal type being more aggressive and with a lower survival rate (of course, this is the type that Elijah had). Proximal EpiS is located within the trunk of the body, such as the pelvis, groin, head and neck. According to our research, it appears that Elijah was only one of a handful of people to have ever had EpiS within the cervical vertebrae.
Due to its slow growing nature, Epitheliod Sarcoma often goes undiagnosed for 12 to 18 months after initial occurrence, due to limited symptoms. It is also often misdiagnosed as a skin condition, inflammation, wart, muscle pull or benign growth. Since EpiS grows so slowly compared to most cancers, the body is usually not able to recognize and react to the foreign growth, and also often adapts around the tumor, which allows the tumor to grow relatively pain free and without significant symptoms. Additionally, soft tissue tumors do not show up on x-rays, only more advanced imaging, such as CT Scans and MRI, making it harder to detect with conventional imaging methods. Due to all of this, Epitheliod Sarcoma is usually diagnosed at and advanced stage, often with metastasis.
Demographics and Causes
Epitheliod Sarcoma most commonly strikes young adults between 10 and 35, yet no age group is immune. It has been found in infants to seniors. Patients are typically white males, but again, EpiS has affected the full spectrum of all races and genders.
At this time, there is no definitive known cause of Epitheliod Sarcoma, as its incidence has not been linked to nutrition, lifestyle or environment. All cancers are a result of genetic mutations within the cell structure. In almost 90% of cases, Epitheliod Sarcoma is characterized by the loss of a single cellular gene, called SMARCB1, a tumor suppressor gene which is located on chromosome 22q11.2 (in case you were wondering).
Epitheliod Sarcoma is generally resistant to standard chemotherapy and radiation, mostly due to its slow growth. Since 1970, the standard method of treatment remains surgical removal of tumors with wide resection (which was especially difficult in Elijah's case, since his tumor had invited the vertebrae at the top of the spine, close to his brain). In the instances of distal locations, such as hands, arms, feet and legs, immediate and aggressive amputation has long been the preferred practice of treatment. Elijah's tumor, along with most of his cervical vertebrae C2 - C5 were successfully removed by surgery.
The combination of Doxorubicin and Isofamide have been the primary chemotherapy treatments that have proven moderately effective for EpiS. Both of these drugs were developed in the 1950's and are still utilized today as the "gold standard" of chemotherapy treatment. These chemotherapies both are extremely toxic and cause extensive organ damage, especially to the heart, which is most pronounced in small children. Elijah did not have either of these chemotherapies, due to the limited proven results and extreme toxicity.
Radiation is commonly used to halt the growth and limit the spread of Epitheliod Sarcoma prior to surgery. However, this presents additional issues, since radiated skin and tissue is much slower to recover after surgery. Elijah endured a total of 60 rounds of radiation, which effectively shrunk his original spinal tumor, but was not effective on the lung metastasis.
To this date, there remains no proven historically successful treatment method for EpiS.
Recurrence and Metastasis
Epitheliod Sarcoma is characterized by a high rate of local recurrence or metastasis, occurring in more than 50% of cases. Local recurrences of tumors at the original location have occurred up to 10 years after a patient has been declared "no evidence of disease". In addition, metastasis to the lymph system and lungs is common. Once metastasized, Epitheliod Sarcoma becomes even mort difficult to treat, resulting in an even worse prognosis.
Elijah's had no recurrence of cancer at the original site in his neck. However, it metastasized to both lungs 6 months after surgery, eventually growing outside of his right lung, invading his chest wall and rib cage.