Parental origin of chromosome 22 loss in sporadic and NF2 neuromas. 1991

B Fontaine, and M Sanson, and O Delattre, and A G Menon, and G A Rouleau, and B R Seizinger, and A F Jewell, and M P Hanson, and A Aurias, and R L Martuza
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.

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.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D009463 Neuroma A tumor made up of nerve cells and nerve fibers. (Dorland, 27th ed) Neuromas
D010290 Parents Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002892 Chromosomes, Human, Pair 22 A specific pair of GROUP G CHROMOSOMES of the human chromosome classification. Chromosome 22
D005260 Female Females

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