Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins

BACKGROUND Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD We describe here the first pair of monozygotic twins with NF2, and the result of the molecular...

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Bibliographic Details
Published in:Surgical neurology 1999-05, Vol.51 (5), p.528-535
Main Authors: Harada, Hironobu, Kumon, Yoshiaki, Hatta, Nobuaki, Sakaki, Saburo, Ohta, Shinsuke
Format: Article
Language:English
Subjects:
Adult
Brain Neoplasms - genetics
Child
Child, Preschool
Diseases in Twins - genetics
Humans
Infant
Magnetic Resonance Imaging
Male
monozygotic twins
multiple brain tumors
Mutation
mutational analysis
Neoplasms, Multiple Primary - genetics
Neurofibromatosis 2 - genetics
Neurofibromatosis type 2
Polymerase Chain Reaction - methods
Tomography, X-Ray Computed
Twins, Monozygotic
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Summary:BACKGROUND Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.
ISSN:0090-3019
1879-3339
DOI:10.1016/S0090-3019(97)00487-4