Involvement of the long arm of chromosome 9 in medulloblastoma in an adult

Medulloblastoma is the most common primitive neuroectodermal tumor (PNET) in children, but is very rare in adults. An isochromosome for the long arms of 17, i(17q), is found in about 30% of pediatric cases. Cytogenetic studies in adults are very scarce; only six cases have been described cytogenetically: three cases had normal karyotype, two were studied partially, and another presented only two clonal structural anomalies: del(9)(q12) and del(11)(q22). We studied the chromosomes from medulloblastoma in a 27-year-old woman and found one hypotetraploid stemline with clonal alterations. In the structural anomalies, chromosomes 3, 9, 12, and i(17q) were involved. Chromosome 9 presented a deletion in the long arm, del(9)(ql3), with consequent loss of the 9q13→qter region. This anomaly was similar to one found in a previous case. We suggest that the partial loss of the long arm of chromosome 9 may be a characteristic change of adult medulloblastoma.