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

• Desmoplastic Small Round Blue Cell Tumor of Pancreas
• Pancreatic Desmoplastic Small Round Blue Cell Tumor
• Pancreatic Desmoplastic Small Round Cell Tumor

What is Desmoplastic Small Round Cell Tumor of Pancreas? (Definition/Background Information)

• Desmoplastic Small Round Cell Tumor (DSRCT) of Pancreas is a very rare, soft tissue tumor of the pancreas. It is a type of high-grade malignant cancer that spreads and infiltrates into the surrounding tissues and organs
• This type of tumor can develop at any age. However, DSRCT is more common in children, adolescents, and young adults. Males are more frequently affected than females
• Individuals with Desmoplastic Small Round Cell Tumor of Pancreas may present with abdominal mass, abdominal pain, jaundice, and constipation, among other symptoms. A combination of surgery, chemotherapy and radiation therapy may be used in the treatment of this form of pancreatic cancer
• However, in many cases, Desmoplastic Small Round Cell Tumor of Pancreas is diagnosed after metastasis has already taken place. The highly-malignant nature of this cancer portends a poor outcome, with the median span of survival at 17 months post-diagnosis

The pancreas is an important organ of the digestive system.

• Functionally, the pancreas can be divided into 2 parts, namely:
  • Exocrine pancreas, which produces digestive enzymes, and constitute about 95% of this important organ
  • Endocrine pancreas, which secretes hormones such as insulin, glucagon, gastrin, and somatostatin. Insulin and glucagon regulate sugar levels in blood

Pancreatic tumors (benign and malignant) can arise from both the exocrine and the endocrine components of the organ. Most endocrine tumors are benign and develop at a slower rate than exocrine tumors.

• Based on the anatomy of the pancreas, it can be divided into 3 main parts, namely the:
  • Head,
  • Body, and
  • Tail

Pancreatic tumors can affect the head, body, and tail region of the pancreas. Some tumors can affect one region of the pancreas more than the other.

Who gets Desmoplastic Small Round Cell Tumor of Pancreas? (Age and Sex Distribution)

• Desmoplastic Small Round Cell Tumor of Pancreas is an extremely rare type of soft-tissue tumor of the pancreas, which may occur in individuals of all races and ethnicities
• Individuals of all ages are susceptible to DSRCT of Pancreas. However, the younger populations (children and young adults) are the most vulnerable
• Although both genders may be affected, the cancer occurs at a higher frequency in males than females

What are the Risk Factors for Desmoplastic Small Round Cell Tumor of Pancreas? (Predisposing Factors)

The risk factors for Desmoplastic Small Round Cell Tumor of Pancreas may include:

• Age: Childhood, adolescence, and young adulthood
• Gender: Males are more susceptible to this type of cancer than females
• Personal or family history of Wilm’s tumor or Ewing’s sarcoma: An association with Wilm’s tumor and Ewing’s sarcoma have been observed in some cases of DSRCT

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 Desmoplastic Small Round Cell Tumor of Pancreas? (Etiology)

Desmoplastic Small Round Cell Tumor of Pancreas is associated with cytogenetic alterations in chromosomes 11 and 22.

• A type of cytogenetic alteration, known as translocation, changes the position of segments of DNA (and genes) between the involved chromosomes
• New fusion genes form due to the translocation process
  • Fusion genes form when the process of translocation joins genes that would otherwise be separated on different chromosomes
  • These genes code for aberrant proteins
• In the case of Pancreatic Desmoplastic Small Round Cell Tumor, the translocation of genetic material occurs at the loci for WTI and EWS genes
  • Mutation(s) in WT1 gene cause Wilm’s tumor
  • Alterations in EWS gene cause Ewing’s sarcoma
  • Therefore, the new fusion gene in DSRCT of Pancreas is WT1-EWS, both of which are associated with different types of tumor
• The trigger(s) for such a chromosomal translocation is not currently known

What are the Signs and Symptoms of Desmoplastic Small Round Cell Tumor of Pancreas?

The signs and symptoms of Desmoplastic Small Round Cell Tumor of Pancreas depend on several factors such as the following:

• Size of the tumor
• Histological type of the tumor
• Whether the tumor produces hormones
• Local spread of the tumor
• Extent of bleeding within the tumor

Typically, the signs and symptoms of Desmoplastic Small Round Cell Tumor of Pancreas may not occur until later stages of cancer development. The type and severity of symptoms may vary among affected the individuals, and may include: 

• Anorexia (loss of appetite)
• Jaundice, manifested as yellowing of the skin and white part of the eyes
• Dark urine, also a sign of jaundice
• Pain in the upper part of the abdomen or middle of the back
• Fluid accumulation in the abdomen (ascites), abdominal swelling
• Persistent feeling of abdominal bloating with nausea or vomiting
• Feeling full soon after eating less (having a feeling of satiety after eating less)
• Changes in bowel movements, such as constipation
• Umbilical hernia - protrusion of intestine through a weak point in the abdominal wall in near the belly button
• The formation of blood clots in veins, swelling of legs
• Frequent urination (polyuria), excessive thirst, and blurred vision - all signs of elevated blood sugar levels in the body
• Fatigue, feeling tired easily
• Unintended weight loss
• Depression

Some of the other features of the tumor include:

• The tumor may be present as a single mass or multiple nodules within the organ
• These tumors are locally aggressive, meaning that the tumor may spread to local areas

How is Desmoplastic Small Round Cell Tumor of Pancreas Diagnosed?

Currently, there is no standard diagnostic method to accurately detect Desmoplastic Small Round Cell Tumor of Pancreas during the early stages. However, healthcare professionals and specialists may sometimes incidentally discover a pancreatic tumor when testing for other conditions.

There are a variety of tests that a healthcare provider may use, to detect, locate, and diagnose DSRCT of Pancreas on appearance of the signs and symptoms. These tests and exams include:

• Physical examination and medical history evaluation: Diagnosing DSRCT of Pancreas usually begins with a thorough physical examination and evaluation of complete medical history. During a physical exam, the overall health status and symptoms (such as pain, loss of appetite, and weight loss) of the affected individual are checked
• Computerized tomography (CT) scan of the pancreas: With this radiological procedure, detailed three-dimensional images of structures inside the body are created. CT scans may be also helpful in detecting recurrences, or if Desmoplastic Small Round Cell Tumor of Pancreas has metastasized to other organs
• Magnetic resonance imaging (MRI) scan of the pancreas: An MRI scan uses magnetic fields that create high-quality pictures of certain body parts, such as tissues, muscles, nerves, and bones. These high-quality images may indicate to a physician if any DSRCT of Pancreas is present
• In addition, there are certain specific types of MRI scans that can be used in an individual who may have pancreatic cancer. such radiological procedures include:
  • MR cholangiopancreatography (MRCP): It is a noninvasive test that uses a powerful magnetic field to produce images of soft tissues, bones, organs, and all other internal body structures
  • MR angiography (MRA): It is a noninvasive test that uses a powerful magnetic field to evaluate the blood vessels
• Endoscopic ultrasound (EUS): This is a minimally invasive procedure recommended for individuals who are suspected to have DSRCT of Pancreas. An ultrasound device is inserted through a thin tube (called endoscope) down the stomach and into a part of the small intestine. It uses high-frequency sound waves to generate detailed images of the pancreas
• Endoscopic retrograde cholangiopancreatography (ERCP): A procedure used when an individual has developed symptoms of DSRCT of Pancreas. An ultrasound device is inserted through a thin tube (called endoscope) down the stomach and into the first part of the small intestine. A dye is injected into the pancreas and bile ducts. The movement of the dye is followed through a series of images. A small tissue sample (biopsy) can be collected during this procedure
• Tissue biopsy: A tissue biopsy of the cyst (including the fluid inside the cyst) or mass 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
• The tissue for diagnosis can be procured in multiple different ways, and they include:
  • Fine needle aspiration (FNA) biopsy of the pancreatic tumor: A FNA biopsy may not be helpful, because one may not be able to visualize the different morphological areas of the tumor. Hence, a FNA biopsy as a diagnostic tool has certain limitations, and an open surgical biopsy is preferred
  • Core biopsy of the pancreatic tumor
  • Open biopsy of the pancreatic tumor
  • Endoscopic retrograde cholangiopancreatography
• Positron emission tomography (PET): A PET scan is a nuclear medicine imaging technique that generates three-dimensional images to show how tissue and organs are functioning. A small amount of radioactive material may be injected into a vein, inhaled or swallowed. A PET scan is also helpful in detecting recurrences, or if any metastasis (to the surrounding lymph nodes of the pancreas) has occurred

A number of blood tests can also be helpful in the diagnosis of Desmoplastic Small Round Cell Tumor of Pancreas or to help determine the treatment options. The blood tests include:

• Liver function blood tests
• Blood tests that may involve tumor markers, such as carcinoembryonic antigen (CEA) and CA 19.9

The diagnostic tests aid in determining the extent of cancer, based on a system of classification, such as the “AJCC system for staging of pancreatic cancer”.

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.

Determination of type and extent of cancer:

Once a diagnosis of Desmoplastic Small Round Cell Tumor of Pancreas has been made, the extent to which the tumor has spread is assessed, known as staging. The system used most often to stage pancreatic cancer is the American Joint Committee on Cancer (AJCC) TNM system, which is based on 3 key pieces of information.

The TNM classification for different types of pancreatic cancer is given below:

Tumor extent (T):

• TX: The main tumor cannot be assessed
• T0: No evidence of a primary tumor
• Tis: Carcinoma in situ (the tumor is confined to the top layers of pancreatic duct cells). (Very few pancreatic tumors are found at this stage.)
• T1: The cancer has not grown outside the pancreas and is 2 centimeters (cm) (about ¾ inch) or less across.
• T2: The cancer has not grown outside the pancreas but is larger than 2 cm across
• T3: The cancer has grown outside the pancreas into nearby surrounding structures but not into major blood vessels or nerves
• T4: The cancer has grown beyond the pancreas into nearby large blood vessels or nerves

Lymph node spread of cancer (N):

• NX: Nearby (regional) lymph nodes cannot be assessed
• N0: The cancer has not spread to nearby lymph nodes
• N1: The cancer has spread to nearby lymph nodes

Distant spread of cancer (M):

• M0: The cancer has not spread to distant lymph nodes (other than those near the pancreas) or to distant organs such as the liver, lungs, brain, etc.
• M1: The cancer has spread to distant lymph nodes or to distant organs

Stage grouping: Once the T, N, and M categories have been assigned, this information is combined to assign an overall stage in a process called stage grouping. The stages identify tumors that have a similar outlook and are treated in a similar way.

Stage 0 (Tis, N0, M0):

• The tumor is confined to the top layers of pancreatic duct cells and has not invaded deeper tissues. It has not spread outside of the pancreas
• These tumors are sometimes referred to as pancreatic carcinoma in situ or pancreatic intraepithelial neoplasia III (PanIN III)

Stage IA (T1, N0, M0):

• The tumor is confined to the pancreas and is 2 cm across or smaller (T1)
• The cancer has not spread to nearby lymph nodes (N0) or distant sites (M0)

Stage IB (T2, N0, M0):

• The tumor is confined to the pancreas and is larger than 2 cm across (T2)
• The cancer has not spread to nearby lymph nodes (N0) or distant sites (M0)

Stage IIA (T3, N0, M0):

• The tumor is growing outside the pancreas but not into major blood vessels or nerves (T3)
• The cancer has not spread to nearby lymph nodes (N0) or distant sites (M0)

Stage IIB (T1-T3, N1, M0):

• The tumor is either confined to the pancreas or growing outside the pancreas but not into major blood vessels or nerves (T1-T3)
• The cancer has spread to nearby lymph nodes (N1) but not to distant sites (M0)

Stage III (T4, Any, N, M0):

• The tumor is growing outside the pancreas and into nearby major blood vessels or nerves (T4)
• The cancer may or may not have spread to nearby lymph nodes (Any N). It has not spread to distant sites (M0)

Stage IV (Any T, Any N, M1): The cancer has spread to distant sites (M1).

(Source: “The AJCC system for staging pancreatic cancer”; information provided by the American Cancer Society, May 2016)

What are the possible Complications of Desmoplastic Small Round Cell Tumor of Pancreas?

Complications of Desmoplastic Small Round Cell Tumor of Pancreas may include the following:

• Jaundice owing to biliary tract obstruction
• Abdominal pain due to tumor growth pressing on the nerves in the abdomen
• Gastrointestinal obstruction
• Diabetes, if the tumor destroys enough islet cells of the pancreas
• Weight loss
• Metastases to the liver and lymph nodes
• Recurrence of Desmoplastic Small Round Cell Tumor of Pancreas following treatment
• Side effects from the chemotherapy (such as toxicity) and radiation therapy

How is Desmoplastic Small Round Cell Tumor of Pancreas Treated?

The treatment methods for Desmoplastic Small Round Cell Tumor of Pancreas are determined by several factors, such as, how advanced the cancer is, the overall health of the affected individual, as well as his/her personal preference(s). The healthcare provider determines and plans the best course of treatment on a case-by-case basis.

Once the extent of cancer has been determined, the following treatment methods may be employed:

• A debulking surgery to reduce the tumor mass (followed by a combination of chemotherapy and radiation therapy may be employed in some instances)
• The debulking procedure helps the chemotherapy treatment in being more effective, since there is lesser tumor mass left for the drugs to act on

Surgery for tumors located in the pancreatic head: Pancreatoduodenectomy

• A surgical procedure that involves the removal of part of the pancreas, part of the small intestine, and the gallbladder
• This procedure is typically used when the tumor is confined to the head of the pancreas
• The technique is also known as a Whipple procedure

Surgery for tumors in the pancreatic tail and body of the pancreas: Distal pancreatectomy

• A surgical procedure that involves the removal of the lower half or tail end of the pancreas
• Post-operative care is important: A minimal physical activity is advised, until the surgical wound heals

After surgical treatment and post-operative care, the attending healthcare professional/specialist may discuss the details of the cancer with the individual. Based on this, further treatment measures may be required that include:

Chemotherapy: It may be administered before or after the debulking procedure, depending on the individual’s specific circumstances.

• Chemotherapy is a treatment that uses drugs to kill cancer cells. In this treatment, a combination of two or more chemotherapy drugs is generally used
• These drugs may be administered orally (by mouth), or intravenously (through a vein in the arm)
• Chemotherapy may be used in addition to radiation therapy (chemoradiation). Chemoradiation is usually used to treat pancreatic cancers that have spread to surrounding organs, but not to distant body regions
• This combination may also be used after surgery to decrease the risk of cancer recurrence

Radiation therapy:

• Radiation therapy attempts to destroy cancer cells by aiming high-energy beams at the cancer cells
• Radiation therapy can be administered either by a machine placed outside the body (external beam radiation), or internally, by a device positioned directly at, or close to the malignant tumor
• This technique may be used before surgery, to decrease the size of a tumor, thus allowing for its easy removal; or after surgery, to kill the remaining cancer cells
• Radiation therapy and chemotherapy are sometimes used as a combination tool

How can Desmoplastic Small Round Cell Tumor of Pancreas be Prevented?

• The US Preventive Services Task Force (USPSTF) currently does not have any recommendation for screening Desmoplastic Small Round Cell Tumor of Pancreas for the general population
• If there is a history of Wilm’s tumor or Ewing’s sarcoma within the family, getting oneself monitored regularly may be helpful in diagnosing DSRCT of Pancreas early
• Due to the metastasizing potential and chances of recurrence, regular medical screening at periodic intervals with blood tests, radiological scans, and physical examinations are often needed, once an individual is diagnosed with the cancer

What is the Prognosis of Desmoplastic Small Round Cell Tumor of Pancreas? (Outcomes/Resolutions)

• The prognosis of Desmoplastic Small Round Cell Tumor of Pancreas depends upon a set of several factors, which includes:
  • 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
  • The surgical resectability of the tumor (meaning, if the tumor can be removed completely)
  • Overall health of the individual: Individuals with overall excellent health have better prognosis compared with those with poor health
  • Age of the individual: Older individuals generally have poorer prognosis than younger individuals
  • Whether the tumor is occurring for the first time, or is a recurrent tumor. Recurring tumors have worse prognosis 
  • Response to treatment: Tumors that respond to treatment have better prognosis compared to tumors that do not respond to treatment
• In general, the overall 5-year survival rate of individuals with Desmoplastic Small Round Cell Tumor of Pancreas is poor, as in many cases, metastasis has occurred at the time of diagnosis. The median age of survival after tumor diagnosis is 17 months

Additional and Relevant Useful Information for Desmoplastic Small Round Cell Tumor of Pancreas:

• It is estimated that the average lifetime risk of developing Pancreatic Cancer is about 1 in 67 (1.5%)
• Individuals can reduce their risk of developing Pancreatic Cancer through lifestyle or behavioral changes