Desmoplastic Small Round Cell Tumor Presenting as an Intra/Extracranial Mass.

Area of Science:

• Oncology
• Pathology
• Genetics

Background:

• Desmoplastic small round cell tumors (DSRCT) are aggressive malignancies characterized by a specific chromosomal translocation.
• Intracranial metastasis from DSRCT is exceptionally rare, with limited documented cases.
• The prognosis for DSRCT is generally poor, necessitating effective therapeutic strategies.

Observation:

• A 33-year-old male patient with pelvic DSRCT presented with neurological symptoms including a scalp lump and right-sided weakness.
• Imaging and biopsy confirmed intracranial metastasis of DSRCT with subsequent extracranial extension.
• This represents a unique presentation of DSRCT metastasis beyond the cranial vault.

Findings:

• The patient's condition demonstrated an extremely rare instance of DSRCT metastasizing to the brain and then extending externally.
• Histopathological analysis confirmed the metastatic nature of the scalp lesion, originating from the primary DSRCT.
• This case highlights an unusual pattern of DSRCT dissemination.

Implications:

• The findings underscore the aggressive potential of DSRCT, even in rare metastatic patterns.
• Aggressive multimodal treatment, including surgical resection, chemotherapy, and radiation, is crucial for managing DSRCT with intracranial and extracranial spread.
• Further research into DSRCT metastatic pathways and treatment optimization is warranted to improve patient outcomes.