title: Spinal schwannomatosis in the absence of neurofibromatosis: A very rare condition.
abstract: Schwannomatosis is defined as an extremely rare tumors syndrome characterized by the presence of multiple schwannomas in the absence of typical signs of NF1 and NF2 syndromes. The genetic and molecular analysis performed on these tumors makes it possible to name schwannomatosis as distinct clinical and genetic syndrome. The treatment in the case of symptomatic lesions is surgical removal; if the lesions are asymptomatic it is better to perform serial MRI studies. Given the high incidence of developing additional lesions in patients with schwannomatosis, it remains imperative to perform serial brain and spinal cord MRI studies during follow-up. The differential diagnosis is important including clinical and radiological criteria plus molecular genetic analysis of tumor cells and lymphocyte DNA. We report a rare case of spinal schwannomatosis in which genetic analysis performed on surgical samples showed two different mutations in the cells of the two lesions.
authors.affiliation: Department of Neurological Science, Division of Neurosurgery, University of Rome Sapienza, Roma, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Landi
authors.forename: D E
authors.initials: DE
authors.lastname: Dugoni
authors.forename: N
authors.initials: N
authors.lastname: Marotta
authors.forename: C
authors.initials: C
authors.lastname: Mancarella
authors.forename: R
authors.initials: R
authors.lastname: Delfini
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