1/8. Parasagittal cranial fasciitis after irradiation of a cerebellar medulloblastoma: case report.OBJECTIVE AND IMPORTANCE: Cranial fasciitis is a very rare, nontumoral lesion of the cranium with potential intracranial expansion typical of childhood. radiotherapy has not been reported among the possible causes or factors associated with this condition. We present a case of cranial fasciitis in an 11-year-old patient previously admitted for cranial radiotherapy of a cerebellar medulloblastoma. cytogenetic analysis revealed a pattern of chromosomal abnormalities suggestive of a radiation-induced lesion. CLINICAL PRESENTATION: An 11-year-old patient, who had been treated previously with craniospinal radiotherapy for a medulloblastoma, presented with a tumor resembling a parasagittal meningioma. INTERVENTION: At surgery, the tumor apparently had eroded the cranium and was deemed to originate from the external layer of the sagittal sinus. A distinct line of cleavage permitted total removal. Histological analysis was suggestive of cranial fasciitis. cytogenetic analysis revealed the presence of a polyclonal karyotype in a background of nonclonal changes. CONCLUSION: Cranial fasciitis should be included in the differential diagnosis of intracranial tumors infiltrating the cranium. Treatment of these lesions is easier than that of other parasagittal lesions because the sinus is compressed but not infiltrated. This case is associated with previous radiotherapy; thus, cranial fasciitis could be considered one of the more common radiation-induced lesions.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/8. Differentiation of classic medulloblastoma into metastatic large cell medulloblastoma with focal rhabdoid differentiation in the absence of posterior fossa recurrence.A case of classic medulloblastoma that metastasized, despite the absence of local recurrence, to extraneural sites 7 years after treatment is reported. The metastases were, in contrast to the primary tumor, of large cell type and displayed abortive myogenic and, in one site, also rhabdoid differentiation. The primary tumor expressed microtubule-associated protein 1B and neuron-specific nuclear protein (NeuN), and was desmin negative. The metastases were also positive for microtubule-associated protein 1B and NeuN, although the expression of the latter marker was weak and/or focal in two of four metastases and absent in the rhabdoid metastasis. They were, in contrast with the primary tumor, all strongly positive for desmin. The hSNF5/INI1 was expressed in the nuclei of all cells of the primary tumor and the metastases, including the one with rhabdoid differentiation. Two metastases were studied by cytogenetics. The composite karyotype of a large cell metastasis was 45~46,XY,add(1)(p36.1),t(2;8)(p21;q24.1),add(3)(q25),t(9;15)(q22;q13),add(12)(p11 .2), 1approximately2mar,inc[cp12]/46,XY[12], while the rhabdoid metastasis contained additional changes including monosomy 22. These findings indicate that some rhabdoid (atypical teratoid/rhabdoid) tumors of the cerebellum and medulloblastoma may be histogenetically related.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/8. Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome.cytogenetic analysis of the products of conception in a pregnancy at risk for Bloom's syndrome (BS) documented the karyotype 49,XX, 2, 8, 11. Autosomal triple trisomy has previously been reported in abortuses but is exceedingly rare. Other interesting but previously unreported observations made during the present study were the following: BS in a Brazilian individual, the first instance of BS diagnosed in south america; transmission of the BS mutation in jews that are non-Ashkenazi; a medulloblastoma in the propositus, the first malignant brain tumor reported in BS; and, as in all previously examined pregnancies at risk for BS, non-homozygosity for the BS mutation.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/8. A case of cerebellar medulloblastoma with a single chromosome abnormality.In the few published karyotypes of human medulloblastoma, multiple chromosome abnormalities have usually been demonstrated. We report a case of medulloblastoma in which only a single structural alteration was observed, namely an unbalanced translocation between chromosomes 1 and 6 resulting in partial 1q trisomy and partial 6q monosomy. This finding may help define genomic regions that are of importance in development of medulloblastoma.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/8. High frequency of telomeric association in a family with multiple congenital neoplasia.Chromosomal analysis of the peripheral blood cultures of a married couple whose second pregnancy gave birth to twin daughters with multiple congenital malignancies revealed normal karyotypes of 46,XX and 46,XY, respectively. However, in the father's blood, 23.3% of metaphases showed telomere-telomere associations involving single-single and double-double chromatids. Such associations were not observed in the metaphases of the mother. We speculate from these observations that the father's genotype may somehow be responsible for the congenital malignancies in their twin daughters.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/8. Cytogenetic abnormalities in a disseminated medulloblastoma.A 3-year-old girl developed central nervous system, bone and bone marrow metastases, and hypercalcaemia shortly after presentation with medulloblastoma. Cytogenetic studies of the involved bone marrow showed multiple abnormalities including iso(17q). This chromosome rearrangement has been reported in other cases of recurrent or disseminated medulloblastoma. More studies are required relating the karyotypes of medulloblastomas to long-term outcome to determine if the presence of iso(17q) is a prognostic factor in this malignancy.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
7/8. 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)(q13), 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.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
8/8. Translocation 1;19 in two brain tumors.We report two-cases of brain tumors, one childhood medulloblastoma and one adult glioblastoma with an unusual chromosomal abnormality: a t(1;19)(q23;q13). We analyzed these karyotypes using fluorescence in situ hybridization (FISH) and wonder if this chromosomal aberration could represent a particular entity in these brain tumors like t(1;19) in ALL.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |