Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation
Michael Golden, Saba Saeidi, Benny Liem, Eric Marchand, Leslie Morrison, Blaine Hart, Michael Golden, Saba Saeidi, Benny Liem, Eric Marchand, Leslie Morrison, Blaine Hart
Abstract
Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two-hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease.
Keywords: magnetic resonance imaging; neuroradiology.
Conflict of interest statement
Conflicts of Interest: none
© 2015 The Royal Australian and New Zealand College of Radiologists.
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References
- Gault J, Shenkar R, Recksiek P, Awad IA. Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. Stroke J Cereb Circ. 2005;36:872–4.
- Pagenstecher A, Stahl S, Sure U, Felbor U. A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. Hum Mol Genet. 2009;18:911–8.
- Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971;68:820–3.
- Heckl S, Aschoff A, Kunze S. Radiation-induced cavernous hemangiomas of the brain: a late effect predominantly in children. Cancer. 2002;94:3285–91.
- Jain R, Robertson PL, Gandhi D, Gujar SK, Muraszko KM, Gebarski S. Radiation-induced cavernomas of the brain. AJNR Am J Neuroradiol. 2005;26:1158–62.
Source: PubMed