Cranial irradiation in childhood mimicking neurofibromatosis type II

Felix Bokstein, Tom Dubov, Hagit Toledano-Alhadef, Rinat Bernstein-Molho, Shlomi Constantini, D. Gareth Evans, Shay Ben-Shachar

Research output: Contribution to journalArticlepeer-review

Abstract

Neurofibromatosis type II (NF2) is a genetic disease characterized by bilateral vestibular schwannomas (VS) and other nerve system tumors. However, such tumors may be associated with environmental, rather than a genetic, etiology. Individuals fulfilling the clinical criteria of NF2 who had been treated by head ionized irradiation at a young age were compared for disease characteristics and molecular analysis with non-irradiated sporadic NF2 cases. In the study cohort, three of 33 sporadic adult cases fulfilling NF2 diagnostic criteria had a history of early age cranial irradiation exposure. None of the irradiated patients had bilateral VS compared with 73.3% of the non-irradiated individuals. One of the irradiated patients had no VS, while none of the non-irradiated NF2 cases had absence of VS. All of the irradiated individuals had brain meningiomas and thyroid tumors compared with 47% and 0%, respectively, of the non-irradiated individuals. Molecular analyses for NF2 mutations in blood of the irradiated individuals failed to detect disease-causing mutations. This study suggest that environmental factors may mimic NF2. Identifying such non-genetic cases fulfilling clinical criteria of the genetic disease may be crucial for the purposes of genetic counseling and patient management.

Original languageEnglish
Pages (from-to)1635-1639
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number6
DOIs
StatePublished - Jun 2017

Keywords

  • NF2
  • neurofibromatosis type II
  • radiation
  • tinea capitis
  • vestibular schwannoma

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