CIC-DUX4 Rearranged Sarcoma; CIC-DUX4 Sarcoma; Small Round-Cell Sarcoma With CIC Rearrangement

CIC-rearranged sarcoma is a class of small round-cell tumors that fall under the Ewing sarcoma group of cancers. Although historically grouped with Ewing sarcomas, these tumors are genetically distinct and tend to be more aggressively metastatic than Ewing sarcomas on average.

The tumors tend to occur in soft tissue or visceral organs, but have been observed originating in bone in about 3% of cases. Metastasis is early and rapid, most commonly to the lungs and brain. Males are affected slightly more likely to be affected often than females.

CIC-rearranged sarcomas are so named due to a characteristic fusion in the tumor of the capicua transcriptional repressor (CIC) gene with one of several genes, most commonly the DUX4 retrogene.

Diagnostic testing: Preliminary testing for CIC-rearranged sarcoma includes:

• •

  X-rays;

• •

  Biopsy;

• •

  CT scan;

• •

  MRI; and

• •

  PET scan.

A definitive diagnosis requires genetic testing to rule out Ewing Sarcoma and other round-cell sarcomas.

Physical findings: Physical symptoms are similar to Ewing sarcoma and may include:

• •

  Pain and swelling at the tumor site;

• •

  Necrosis and hemorrhage in surrounding tissue;

• •

  Fever; and

• •

  Cyst-like growth with visible blood vessels over the tumor.

ICD-9: 171.9

ICD-10: C49.9

CIC-rearranged sarcoma develops and spreads aggressively.

CIC-rearranged tumors that have metastasized have a prognosis of less than 2 years but for localized tumors that can be fully resected, the 5-year survival is about 50%.

The survival rate is slightly higher when tumors are detected and treated in the localized (pre-metastatic) stage. Some with local disease which can be surgically fully resected.

Treatment is not well defined but tends to be multimodality with surgery, radiation, and chemotherapy as applicable to each individual case. Recurrence following treatment is common, occurring in about half of cases.

Surgical resection and chemotherapy are the standard treatment options for CIC-rearranged sarcoma. Some studies have shown surgical intervention to be effective at preventing recurrence when the tumor is detected and removed prior to metastasis.

Suggested MER for Evaluation:

• •

  Clinical history and examination that describes the diagnostic features of the impairment;

• •

  Report that specifies the type, extent, and site of the primary, recurrent, or metastatic lesion;

• •

  Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

• •

  Fluorescence in situ Hybridization (FISH) test positive for presence of CIC and negative for EWSR1 (Ewing Sarcoma marker);

• •

  Imaging tests; and

• •

  Treatment records including surgical procedures and progress notes.

Suggested Listings for Evaluation:

REMARKS

Meeting these listings requires the presence of metastases or persistence or recurrence following initial anti-cancer therapy, which implies a poor prognosis with 5-year survival.