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M E Kusak

Publications and source records attributed to M E Kusak.

33 records · Page 2Linked to original sources
PubMed1993

Involvement of 22q12 in a neurofibrosarcoma in neurofibromatosis type 1.

We describe the cytogenetic and molecular genetic findings in a neurofibrosarcoma arising in a patient affected by neurofibromatosis type 1. Multiple chromosomal rearrangements were found but only a few of them were identified as clonal abnormalities, including a deletion of chromosome 22, which at the molecular level proved to be interstitial, mainly involving the 22q12 region. Loss of heterozygosity for markers D22S32 and MB was observed. These findings are in agreement with previous data which suggest a possible involvement of a gene located at 22q11-q13.1 during the neoplastic development of some neurofibromatosis type 1-associated tumors.

Adult↗
PubMed1993

Chromosome 22 heterozygosity is retained in most hyperdiploid and pseudodiploid meningiomas.

Hyperdiploid or pseudodiploid modal chromosome numbers were found characterizing six human meningiomas, and all six tumors were disomic for chromosome 22. The scarce previous reports on the subject suggest that, in these cytogenetic subgroups of meningiomas, duplication of the retained chromosome 22 occurs after the loss of the other member of the pair, thus correlating well with the main characteristic of meningiomas, that is, losses of 22. To verify this question, molecular genetic analyses were performed on DNA pairs from blood and tumoral samples of all six cases, using polymorphic markers for chromosome 22. Restriction fragment length polymorphism studies failed to show any loss of heterozygosity for markers located on this chromosome in all six cases, suggesting that a different mechanism to that previously proposed might take place in the hyperdiploid or pseudodiploid meningiomas; perhaps a submicroscopic involvement (microdeletions or inactivating mutations) of the meningioma locus (both alleles) may result in an effect similar to that produced by monosomy 22 (which probably unmasks recessive mutations on the retained allele), enhancing the development of meningiomas.

Alleles↗
PubMed1992

Loss of heterozygosity for distal markers on 22q in human gliomas.

Loss of constitutional heterozygosity as determined through the analysis of restriction-fragment-length polymorphism (RFLP) on tumoral and constitutional DNA has proven to be helpful to delimit the location of tumor-suppressor genes in the human genome. In malignant gliomas this approach indicates that chromosomes 9p, 10, 17p, and 22 may contain genes of this category involved in its origin and/or progression. Regarding chromosome 22, the data so far provided by molecular studies confirmed those previously reported by cytogenetic studies, suggesting the existence of a sub-group of malignant gliomas characterized by monosomy of this chromosome. However, the precise location of the putative glioma suppressor gene on chromosome 22 remains ambiguous. We have performed a combined cytogenetic and RFLP study on a series of 31 gliomas, looking for structural abnormalities of this chromosome. In 3 instances, terminal deletions of the long arm of chromosome 22 were observed by both methodologies, suggesting that the band q13 region distal to the D22S80 marker might be the critical domain non-randomly involved in tumor suppression of gliomas.

Astrocytoma↗
PubMed1991

[Cranio-orbital neurofibrosarcoma].

We present a type 1 neurofibromatosis case with sarcomatous degeneration of a cranio-orbital neurofibroma, its surgical evolution and the cytogenetics and cellular proliferative potential features (CMF, Ki-67 antibody).

Adult↗
PubMed1990

Elastosis in meningioma.

A 63-year-old woman underwent a left craniotomy for the removal of a middle cranial fossa meningioma. Microscopically, the tumor showed a transitional and fibroblastic histological pattern. Within the tumoral tissue there were collagenous foci where little eosinophilic masses were found. This component corresponded to elastic material with typical staining properties. Such features disappeared when the histological slides were incubated with elastase. Elastosis is very uncommon feature observed in meningiomas, with an uncertain significance.

Elastic Tissue↗
PubMed1989

Cytogenetic follow-up from direct preparation to advanced in vitro passages of a human malignant glioma.

In order to evaluate which cytogenetic evolutionary patterns take place during the in vitro establishment of a permanent glioma cell line, cytogenetic follow-up was performed on direct preparations and primary cultures from a malignant astrocytoma and on serial passages for more than 2 years of in vitro propagation. Sixteen passages were studied, and the presence of a marker chromosome in direct preparations and after in vitro growth permitted us to identify the clonal evolution of the resulting permanent cell line. Near-triploid cells present in the direct study became the main cell population in vitro; chromosomal losses and the acquisition of a few new marker chromosomes were also characteristic features, leading to a stable modal number of around 60 chromosomes in the last passages analyzed. The results provide new evidence of the existence of more than one pattern of chromosomal evolution during the in vitro establishment of human gliomas.

Chromosome Aberrations↗
PubMed1988

Incidence and origin of dicentric chromosomes in cultured meningiomas.

Based on the cytogenetic findings in 32 human meningiomas, an analysis of dicentric chromosomes, usually present in cultures from meningiomas, has been performed. The incidence and origin of such markers have been analyzed and the chromosomal composition of the stem line in the corresponding sample established (i.e., normal karyotype, -22 as the sole chromosomal deviation, or complex karyotypes in addition to #22 abnormalities). More than 10 dicentric chromosomes were found in 12 of 32 meningiomas (37.5%). Sixty-eight of the markers could be identified individually or as belonging to a chromosome group. Fifty-three percent of the meningiomas characterized by a complex stem line karyotype also displayed dicentric chromosomes in variant cells, whereas only 12.5% of meningiomas with a normal diploid stem line showed such chromosomal aberrations. Chromosomes of groups C and D participated most frequently in the genesis of dicentrics; however, chromosomes 19, 20, 3, 6, and 13 were the most frequently involved. Thus, the existence of a nonrandom pattern of involvement supports the fact that dicentrics might play a biologic role in the progression of human meningiomas.

Centromere↗
PubMed1987

Deletion 3p in two lung adenocarcinomas metastatic to the brain.

Cytogenetic analysis by direct and in vitro preparation of brain metastatic lesions from two lung adenocarcinomas have shown the presence of a recurrent chromosomal abnormality, del(3p). These results add new evidence about the presence of 3p- marker chromosomes in adenocarcinoma of the lung.

Adenocarcinoma↗
PubMed1987

Chromosomal patterns in human malignant astrocytomas.

Cytogenetic analysis by direct and/or in vitro preparations was performed on 34 malignant astrocytomas. Thirty tumors showed near-diploid chromosome numbers, whereas, tritetraploid chromosome complements were present in four tumors. The most frequent chromosomal changes implied numerical deviations by a gain of chromosomes #7, #19, and #20, and by losses of #10, #22, and Y. Structural rearrangements were present in stem- or side lines of 24 tumors. Although no common chromosomal rearrangement seems to exist among those tumors, chromosomes #1, #6, #7, and #9 were predominantly involved. Polysomy and structural rearrangements of chromosome #7 could be related to the overexpression of epidermal growth factor gene, previously observed in some malignant gliomas.

Adult↗
PubMed1987

Chromosomal composition of a series of 22 human low-grade gliomas.

G-banded chromosomal analysis was performed on direct and/or in vitro cultures of 22 low-grade gliomas, including nine grade I-II astrocytomas, nine oligodendrogliomas, one mixed tumor oligodendroglioma-astrocytoma, and three ependymomas. Normal diploid stem lines were present in most astrocytomas and oligodendrogliomas, whereas, all three ependymomas displayed polyploid modal numbers. However, secondary cell lines showed the presence of clonal recurrent numerical abnormalities, mainly polysomy 7, monosomy 10 and 22, and loss of the Y chromosome. Clonal structural rearrangements were present with a low incidence; they mainly involved chromosomes #1 and #7. These patterns of chromosome involvement seem to correlate with the scarce previous cytogenetic banding data available from low-grade gliomas. They are also similar to the chromosome alterations found in high-grade gliomas.

Adolescent↗
PubMed1986

A case of pituitary adenoma with 58 chromosomes.

Chromosome analysis was performed on a growth hormone secreting pituitary adenoma. G-banding analysis showed a stem line with 58 chromosomes including numerical deviations of pairs #3, #5, #7, #9, #11, #12, #13, #17, #19, #20, and gonosomes was found. These findings add new evidence of the nonrandom involvement of C and F group chromosomes in numerical deviations in this tumor type.

Adenoma↗