Frequency of loss of heterozygosity of the NF2 gene in schwannomas from Croatian patients

Abstract

AimTo identify gross deletions in the NF2 gene in a panel of schwannomas from Croatian patients in order to establish their frequencies in Croatian population.MethodsChanges of the NF2 gene were tested by polymerase chain reaction/loss of heterozygosity (LOH) using two microsatellite markers, D22S444 and D22S929.ResultsThe analysis with both markers demonstrated that 43.75% of schwannomas exhibited LOH of the NF2 gene. The D22S444 region exhibited 45.5% of LOHs and the D22S929 region exhibited 14.3% of LOHs. Four LOHs were found in Antoni B, 2 in Antoni A, and 1 in Antoni A and B type tumors.ConclusionThe frequency of changes observed in Croatian patients is broadly similar to that reported in other populations and thus confirms the existing hypothesis regarding the tumorigenesis of schwannomas and contributes to schwannoma genetic profile helping us to better understand its etiology and treatment.

Brachial Plexus Schwannoma – Case Report and Literature Review

“…The majority of schwannomas arise sporadically as a single benign tumor although there are cases of multiple schwannomas ( 12 ). Schwannomas usually arise spontaneously although schwannomas are a principal feature of two hereditary tumor diseases, neurofibromatosis type 2 and schwannomatosis ( 16 ). A defining feature for neurofibromatosis type 2 is the presence of bilateral vestibular schwannomas and only 4% of all schwannomas are associated with neurofibromatosis type 2 ( 12 , 16 ).…”

“…Schwannomas usually arise spontaneously although schwannomas are a principal feature of two hereditary tumor diseases, neurofibromatosis type 2 and schwannomatosis ( 16 ). A defining feature for neurofibromatosis type 2 is the presence of bilateral vestibular schwannomas and only 4% of all schwannomas are associated with neurofibromatosis type 2 ( 12 , 16 ). Small tumors are usually uninodular but larger tumors may be multinodular with degenerative features including cyst formation, fibrosis and calcification ( 1 , 17 ).…”

“…Neurofibromas are mostly solitary but may occur as multiple tumors in neurofibromatosis type 1 ( 4 ). Schwannomatosis or neurilemmomatosis is a hereditary disease ( 12 , 16 ), which presents with two or more nonintradermal schwannomas and at least one has histologic confirmation ( 19 ). Patients with schwannomatosis must not fulfill diagnostic criteria for neurofibromatosis type 2 19 .…”

Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas

“…Schwannomas are benign tumors that develop in the Schwann cells, which form the myelin sheath that envelopes the peripheral nervous system (21). Alterations of the NF2 gene have been observed in 60% of the sporadic schwannomas analyzed, indicating an association between the gene and the tumorigenesis of the disease (22,23). Individuals with Type 2 Neurofibromatosis (NF2) are predisposed to the appearance of schwannomas and other tumors of the nervous system, such as meningiomas (24,25).…”