Epstein-Barr virus–associated primary intracranial leiomyosarcoma in an immunocompetent patient: illustrative case

Abstract

BACKGROUND Primary intracranial leiomyosarcomas (PILMSs) are extremely rare tumors arising from smooth muscle connective tissue. PILMSs have been shown to be associated with Epstein-Barr virus (EBV). Thus far, EBV-associated PILMS has been exclusively described in immunocompromised patients. OBSERVATIONS A 40-year-old male presented with a 2-year history of left-sided headaches, nausea, and vomiting. Magnetic resonance imaging demonstrated a large, heterogeneously enhancing, lobulated, dura-based mass arising from the left middle cranial fossa with associated edema and mass effect. The patient underwent an uncomplicated resection of suspected meningioma; neuropathology revealed the exceedingly rare diagnosis of EBV-associated PILMS. Follow-up testing for human immunodeficiency virus (HIV) and other immunodeficiencies confirmed the patient’s immunocompetent status. LESSONS Primary intracranial smooth muscle tumors are often misdiagnosed as meningiomas due to their similar appearance on imaging. PILMSs have a poor prognosis and gross total resection is the mainstay of treatment in the absence of clear recommendations for management. Prompt diagnosis and resection are important; therefore, these tumors should be included in the differential of dura-based tumors, especially among immunocompromised patients. Although EBV-associated PILMSs usually occur in immunocompromised individuals, their presence cannot be ruled out in immunocompetent patients.

Giant primary intracranial multi-fossa leiomyosarcoma involving the frontal sinus, ethmoid air cells, anterior fossa, middle fossa, and intraventricular space: A case report and literature review

“…Of these patients, 25 were male, and 26 were female exhibiting approximately a 1:1 male-to-female ratio. In addition, these tumors were found to be of increased incidence in immunocompromised individuals,[ 7 , 11 , 27 ] Epstein–Barr virus infected individuals[ 9 , 21 , 41 , 42 ] as well as individuals previously operated on or treated with radiation therapy. [ 12 , 40 ]…”

“…Temporal region 63 Female 55×52×45 Selbi et al, [37] 2023 Right middle cranial fossa 60 Female N/a Tabor et al, [41] 2023…”

“…[ 11 , 39 ] The demographic distribution of intracranial LMS is skewed toward males with a wide age range reported, from teenagers to the elderly. [ 2 , 25 , 41 , 44 , 46 ] Risk factors for intracranial LMS include a history of immunocompromised state, such as HIV infection, and previous radiation exposure. [ 39 , 41 , 44 , 46 ] The etiology of intracranial LMS is not well understood, but it is believed to arise from the mesenchymal cells of the dura mater or cerebral blood vessels.…”

“…[ 2 , 25 , 41 , 44 , 46 ] Risk factors for intracranial LMS include a history of immunocompromised state, such as HIV infection, and previous radiation exposure. [ 39 , 41 , 44 , 46 ] The etiology of intracranial LMS is not well understood, but it is believed to arise from the mesenchymal cells of the dura mater or cerebral blood vessels. Intracranial LMS traditionally presents in the left lateral ventricle or originates from the skull.…”

“…[ 2 , 25 , 44 ] Common symptoms vary with the location and size of the tumor but often include persistent headaches, nausea, vomiting, decreased appetite, weight loss, and lethargy. [ 2 , 18 , 25 , 39 , 41 , 44 , 46 ] Management of intracranial LMS is challenging due to its rarity. However, gross total resection has been found to be a significantly favorable factor for increased progression-free survival and overall survival.…”