Parental origin of chromosome 22 loss in sporadic and NF2 neuromas.
It has recently been proposed that the maternally derived chromosome might be preferentially lost in nonfamilial cases of embryonal or early onset malignant tumors. This observation pointed to a potential role of the parental imprinting of the genome during gametogenesis which would be at least partly maintained in the somatic cells. Neuromas are benign tumors that develop from Schwann cells. They occur either sporadically or in individuals that have a genetic predisposition due to neurofibromatosis type 2 (NF2) and usually are multiple. Regardless of the context of occurrence, in approximately 40% of the investigated cases a loss of a chromosome 22 has been documented either by karyotype analysis or by monitoring somatic loss of heterozygosity. We have now examined the parental origin of the chromosome 22 lost in 19 cases of neuromas of patients with unaffected parents among which 11 were non-NF2 patients (sporadic and unique neuroma) and 8 were NF2 patients (bilateral acoustic or multiple neuromas). In both sets of tumors, the lost chromosome 22 can be of either parental origin. A close to threefold preference for the loss of the maternally derived chromosome was observed and should be either confirmed or disproved by studying a larger number of patients.
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.
B
B
Fontaine
M
M
Sanson
O
O
Delattre
A G
AG
Menon
G A
GA
Rouleau
B R
BR
Seizinger
A F
AF
Jewell
M P
MP
Hanson
A
A
Aurias
R L
RL
Martuza
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009463:Neuroma / Q000235:genetics*; D010290:Parents; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length