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GENES, CHROMOSOMES & CANCER 9;124-128 (1994)
Constitutional DNA-level Aberrations in Chromosome 22
in a Patient With Multiple Meningiomas
Ronald H. Lekanne Deprez. Nicole A. Groen, Derrick Louz. Anne HagemeiJer, Ellen van Drunen.lan W. Koper,
Cees J.J. Avezaat. Dirk Bootsma. Theo H. van der Kwast, and Ellen C. Zwarthorf
Departments of Pathology (RHLD" NAG. DL T.v.d K, E.CZ), Ceil B:o!ogy and Genetics (A H. E.v.o" D,B,), Internal t-1edcine
(J,W,K), and Neurosurgery (C J J A). Erasmus University. Rotterdam. The Netherlands
We describe a patient who developed multiple meningiomas but had no clear evidence of neurofibromatosis type 2. Four of
the tumors, derived from three dirferent sites, were analyzed cytogenetically andlor at the DNA level using chromosome 22
speclnc probes. AU four tumors showed loss of the same copy of chromosome 22. On the chromosome that was retained in
the tumors, we found two constitutional aberrations, a 1.5 kb deletion and a point mutation. The patient had Inherited both
alterations from her father. The father has not developed any menlngiom