Cytogenetic abnormalities related to histopathologic grade of astrocytic tumors

Lee, Min-Cheol; Park, Ho-Sang; Kim, Soo-Han; Jung, Shin; Kim, Jae-Hyoo; Kang, Su-Min; Lee, Jae-Hyuk

doi:10.1007/bf02478878

Cited by 2 publications

(2 citation statements)

References 42 publications

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“…All tumors from patients who underwent surgery at Chonnam National University Hospital during the past 10 years were used for cytogenetic study when sufficient tissue remained after what was required for histopathologic diagnosis 14 . In this study, three cases of AT/RT were available for the tumor cell karyotyping and FISH for chromosome 22.…”

Section: Methodsmentioning

confidence: 99%

Atypical teratoid/rhabdoid tumor of the central nervous system: Clinico‐pathological study

Lee¹,

Park²,

Lim³

et al. 2002

Neuropathology

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Atypical teratoid/rhabdoid tumor (AT/RT) is a new entity among malignant pediatric brain tumors. This study was performed to investigate the clinicopathologic and cytogenetic features of the tumor. Five cases from a series of the brain tumors were studied. Clinical features of the patients were assessed with age, sex, location of the tumors, treatments and survival periods. Histopathologic features were analyzed by routine HE stain and immunohistochemical stains for epithelial membrane antigen, cytokeratin, vimentin, smooth muscle actin, desmin, GFAP, S-100 protein, neurofilament protein, synaptophysin and alpha-feto protein. Cytogenetic studies for karyotype analysis and fluorescent in situ hybridization were available in three cases. Mean age of patients was 5.6 years, and maximal survival periods were less than 13 months despite surgical and radiation therapy. The tumors were located in infratentorial and supratentorial areas. Histopathologically, the tumors were chiefly composed of rhabdoid cells, modified rhabdoid cells and undifferentiated small cells, mixed with epithelial, mesenchymal, and neural tumor-like areas. These polyphenotypic features of the tumor cells were supported by diverse immunoreaction. Monosomy of chromosome 22 was demonstrated in two cases of the tumor. These results suggest that AT/RT may be a unique clinicopathologic entity, and histopathologic diagnosis of it should be made judiciously by differentiating other polymorphous tumors of the brain.

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Section: Methodsmentioning

confidence: 99%

Atypical teratoid/rhabdoid tumor of the central nervous system: Clinico‐pathological study

Lee¹,

Park²,

Lim³

et al. 2002

Neuropathology

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“…Cytogenetic analysis of grade I gliomas often reveals a normal karyotype (Lee et al, 1997). Molecular genetic analysis of grade II tumors frequently identifies mutations in the TP53 gene (17p13) and overexpression of the platelet-derived growth factor receptor alpha (PDGFRA) gene (4q12).…”

Section: Introductionmentioning

confidence: 99%

Chromosome 22 tiling‐path array–CGH analysis identifies germ‐line‐ and tumor‐specific aberrations in patients with glioblastoma multiforme

Ståhl

Hartmann

Bustos

et al. 2005

Genes Chromosomes & Cancer

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Gliomas are common and frequently malignant tumors of the central nervous system. Recurrent allelic losses of chromosome 22 have been reported in gliomas, indicating tumor-suppressor genes at this location. However, the target genes are still unknown. We applied a high resolution tiling-path chromosome 22 array to a series of 50 glioblastoma samples, with the aim of investigating the underlying abnormalities in both constitutional and tumor-derived DNA. We detected hemizygous deletions in 28% of the tumors (14 of 50), with monosomy 22 (10 of 50) being the predominant pattern. The distribution of overlapping hemizygous deletions delineated two putative tumor-suppressor loci (11.1 and 3.08 Mb in size) across 22q. Most strikingly, we identified two distinct loci affected by regional gains. Both alterations were of germ-line origin and were unique to samples from patients affected with tumors. Analysis of these two amplified regions revealed the presence of two interesting candidate genes: TOP3B and TAFA5. The TOP3B gene encodes a protein that seems to function in the unlinking of parental strands at the final stage of DNA replication and/or in the dissociation of structures in mitotic cells that could lead to recombination. The TAFA5 gene belongs to a novel family of proteins with similarity to chemokines and brain-specific expression. The role of the identified candidate loci should be studied further. Our results demonstrated the power of array-CGH to determine DNA copy number alterations in the context of germ-line- and tumor-specific aberrations.

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Cytogenetic abnormalities related to histopathologic grade of astrocytic tumors

Cited by 2 publications

References 42 publications

Atypical teratoid/rhabdoid tumor of the central nervous system: Clinico‐pathological study

Atypical teratoid/rhabdoid tumor of the central nervous system: Clinico‐pathological study

Chromosome 22 tiling‐path array–CGH analysis identifies germ‐line‐ and tumor‐specific aberrations in patients with glioblastoma multiforme

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