Primary intracranial sarcoma, DICER1-mutant: 5 cases highlighting variable clinical and molecular features.
Catherine K Gestrich, Simmi Patel, Seema M Shroff et al.
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Case in brief
The report describes five patients aged 6 to 40 years with primary intracranial sarcoma, DICER1-mutant, identified through methylation profiling and/or sequencing. Tumors showed spindle cells with fascicular growth and variable pleomorphism; three had prominent eosinophilic cytoplasmic globules and at least focal myogenic differentiation. All carried a hotspot DICER1 mutation, with concurrent DICER1 loss in two and a known germline truncating DICER1 mutation in one. Three also had KRAS mutations, including one with a TP53 mutation. Two patients were alive without disease at 26.7 and 39.3 months; one died of disease at 20.1 months.
What made this case unusual
The cases included an infratentorial tumor, an adult patient, and a tumor in a patient with a germline DICER1 mutation, illustrating clinical and molecular variation in this entity.
Diagnostic / clinical pearl
Methylation profiling combined with next-generation sequencing can support diagnosis of primary intracranial sarcoma, DICER1-mutant, particularly when clinical or morphologic features vary.