What are the other Names for this Condition? (Also known as/Synonyms)

• CCS of Small Intestine
• Clear Cell Sarcoma of Small Bowel
• Small Intestinal Clear Cell Sarcoma

What is Clear Cell Sarcoma of Small Intestine? (Definition/Background Information)

• A clear cell sarcoma (CCS) is an infrequent, aggressive, but often rapidly developing tumor, without signs and symptoms in the early stages. The tumor usually occurs in the soft tissues, especially in the tendons and aponeurosis (flat, fibrous membranes that anchor muscles)
• They are regarded as a kind of high-grade malignant cancer that spreads and infiltrates the surrounding tissues, tendons, muscles, and organs. The outcome for an individual with this tumor is mostly poor, due to its high metastasizing rate
• Clear Cell Sarcoma of Small Intestine is a very rare mesenchymal (non-epithelial) tumor. It is a recently-discovered entity that is more often seen in the stomach and large intestine (within the gastrointestinal tract), than in the small bowel
• The cause of formation of this tumor is reportedly due to the presence of certain genetic abnormalities. No predisposing factors have been established for Clear Cell Sarcoma of Small Intestine
• Small tumors may be painless and asymptomatic, while advanced cases present unexplained weight loss, abdominal pain, and anemia. In case of a delayed diagnosis, metastasis of the clear cell sarcoma to other distant regions may occur
• The treatment of choice for Clear Cell Sarcoma of Small Bowel is a surgical excision with clear margins followed by radiation therapy/chemotherapy. In case of spread of cancer to other regions, a combination of treatments may be considered by the healthcare provider
• The prognosis depends upon a set of several factors including the stage of the tumor, extent of tumor spread, overall health of the patient, and many other factors. In general, the prognosis of Clear Cell Sarcoma of Small Intestine is poor

Who gets Clear Cell Sarcoma of Small Intestine? (Age and Sex Distribution)

• Clear Cell Sarcoma of Small Intestine is an extremely uncommon form of clear-cell sarcoma that affects the gastrointestinal tract
• It may be seen in a wide age range, beginning from age 10. It normally peaks around age 30, and most cases occur before the age of 40 years
• Infants, young children, and elderly adults are usually not affected
• Both males and females are affected
• All races and ethnic groups are at risk for the tumor

What are the Risk Factors for Clear Cell Sarcoma of Small Intestine? (Predisposing Factors)

• The risk factors for Clear Cell Sarcoma of Small Intestine are not well-established

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Clear Cell Sarcoma of Small Intestine? (Etiology)

The exact cause of development of Clear Cell Sarcoma of Small Intestine is unknown.

• It is believed to occur due to genetic defects, occurring on account of certain chromosomal exchanges
• The fusion of EWSR1 and CREB1 genes at chromosomal location t(2;22)(q32;q12) is seen in some cases

What are the Signs and Symptoms of Clear Cell Sarcoma of Small Intestine?

Clear Cell Sarcoma of Small Intestine may present the following signs and symptoms:

• Initially, small-sized tumors may be asymptomatic
• The tumor may be located anywhere in the small bowel
• The tumors may grow to be 2 to 5 cm or larger in size
• Commonly observed symptoms for advanced cancer are abdominal pain and discomfort, unintended weight loss, and fatigue
• The carcinomas can spread to other parts of the gastrointestinal tract; they can extend into the folds of the intestine
• Large tumors may cause a pressure effect by compressing adjoining structures and organs
• Large tumors may ulcerate and bleed and become painful. This may result in anemia due to blood loss
• Involvement of lymph nodes is often noted

How is Clear Cell Sarcoma of Small Intestine Diagnosed?

A diagnosis of Clear Cell Sarcoma of Small Intestine may involve the following:

• Complete evaluation of family (medical) history, along with a thorough physical examination
• Stool sample analysis
• X-ray of the abdomen and pelvic region
• Barium enema X-ray
• Endoscopy for tumors in the duodenum (upper part of the small intestine). Capsule endoscopy is an effective tool for observing the small intestine along its entire length
• CT or MRI scan of the abdomen and pelvic region: CT scan with contrast or enteroclysis is a reliable procedure for diagnosing the tumor
• Abdominal ultrasound scan
• Upper GI endoscopy: An endoscopic procedure is performed using an instrument called an endoscope, which consists of a thin tube and a camera. Using this technique, the radiologist can have a thorough examination of the insides of the gastrointestinal tract
• Screening colonoscopy: A typical colonoscopy involves using a thin, flexible tube (called a colonoscope), with an attached video camera, to view the colon and rectum. It may help view the ileal and jejunal portions too
• Imaging studies, such as MRI scan, scintigraphy, and PET scan, may be performed to detect tumor invasion and metastasis
• Tissue biopsy of the tumor:
  • A tissue biopsy of the tumor is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis
  • Biopsy specimens are studied initially using Hematoxylin and Eosin staining. The pathologist then decides on additional studies depending on the clinical situation
  • Sometimes, the pathologist may perform special studies, which may include immunohistochemical stains, molecular testing, and very rarely, electron microscopic studies to assist in the diagnosis

Note: At the time of diagnosis, it is typically observed that most tumors have metastasized to the lymph nodes and other regions of the digestive tract.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Clear Cell Sarcoma of Small Intestine?

The complications of Clear Cell Sarcoma of Small Intestine may include the following:

• Ulceration of the tumor can lead to secondary infections of bacteria and fungus
• Compression of the underlying nerve, which can affect nerve function
• Severe bleeding can result in iron-deficiency anemia
• Perforation or rupture of the bowel
• The tumor can metastasize to the local or distant lymph nodes
• Metastasis to other body organs such as the liver, mesentry (membrane folds), stomach, abdominal cavity, lungs, etc.
• Recurrence of the tumor following treatment; the recurrence rate for this tumor is reportedly high
• Side effects of chemotherapy (such as toxicity) and radiation
• Damage to the muscles, vital nerves, and blood vessels, during surgery
• Anastomotic leak; leakage of GI tract contents following surgical procedures, which can result in severe infection and even sepsis
• Post-surgical infection at the wound site is a potential complication

How is Clear Cell Sarcoma of Small Intestine Treated?

The treatment of Clear Cell Sarcoma of Small Intestine usually involves surgery, which is primarily the first treatment option considered. The treatment may also include a combination of radiation therapy and chemotherapy.

• Endoscopy: (for tumors confined to the duodenum)
  • When the tumor is confined to the surface, then endoscopic mucosal/submucosal resection (or surgical removal via endoscopy) is undertaken
  • Individuals with tumors less than 2 cm in size affecting the submucosa, and showing no involvement of the lymph/vascular system, are candidates for endoscopic resection
• Surgical removal of the entire tumor may be the preferred method of treatment (surgical or segmental resection). When the tumors are near the ampulla of Vater, pancreatic-duodenectomy may be required
• Aggressive lymphadenectomy, or surgery to remove the lymph nodes, is proposed when several lymph nodes are affected
• If the tumor has metastasized, then a combination of chemotherapy, radiation therapy, and invasive procedures may be used to treat the tumor
• Palliative care is provided for advanced cancer stages
• Follow-up care with regular screening and check-ups are very important and encouraged

How can Clear Cell Sarcoma of Small Intestine be Prevented?

Current medical research has not established a method of preventing the formation of Clear Cell Sarcoma of Small Intestine. However, the following factors that decrease the incidence of cancer may be considered:

• Adopting a lifestyle that avoids prolonged exposure to pollutants and carcinogens, either at home or at work, may help in preventing tumor formation
• Due to its high metastasizing potential and high recurrence rate, regular medical screening at periodic intervals with blood tests, scans, and physical examinations are mandatory for those who have already been treated for this tumor

What is the Prognosis of Clear Cell Sarcoma of Small Intestine? (Outcomes/Resolutions)

• The prognosis of Clear Cell Sarcoma of Small Intestine is mostly poor
• In general, the prognosis depends upon a set of several factors, which include: 
  • Stage of tumor: With lower-stage tumors, when the tumor is confined to site of origin, the prognosis is usually excellent with appropriate therapy. In higher-stage tumors, such as tumors with metastasis, the prognosis is poor
  • Overall health of the individual
  • Age of the individual: Older individuals generally have poorer prognosis than younger individuals
  • The size of the tumor: Individuals with small-sized tumors fare better than those with large-sized tumors
  • Individuals with bulky disease may have a poorer prognosis
  • Grade of the tumor: Poorly-differentiated tumors (high-grade) have poorer prognosis than well-differentiated tumors (low-grade)
  • Involvement of vital organs may complicate the condition
  • The surgical resectability of the tumor (meaning, if the tumor can be removed completely)
  • Whether the tumor is occurring for the first time, or is a recurrent tumor. Recurring tumors have worse prognosis compared to tumors that do not recur
  • Response to treatment: Tumors that respond to treatment have better prognosis compared to tumors that do not respond to treatment; good response to treatment (surgery and/or chemotherapy/radiation therapy)
  • Progression of the condition makes the outcome worse
• An early diagnosis and prompt treatment of the tumor generally yields better outcomes than a late diagnosis and delayed treatment
• The combination chemotherapy drugs used, may have some severe side effects (such as cardio-toxicity). This chiefly impacts the elderly adults, or those who are already affected by other medical conditions. Tolerance to the chemotherapy sessions is a positive influencing factor

Additional and Relevant Useful Information for Clear Cell Sarcoma of Small Intestine:

The following DoveMed website links are useful resources for additional information:

http://www.dovemed.com/diseases-conditions/cancer/