Mutations of the p53 gene in malignant rhabdoid tumors of soft tissue and the kidney: immunohistochemical and DNA direct sequencing analysis

Kinoshita, Yoshiaki; Shiratsuchi, Hideki; Tamiya, Sadafumi; Oshiro, Yumi; Hachitanda, Yoichi; Oda, Yoshinao; Suita, Sachiyo; Tsuneyoshi, Masazumi

doi:10.1007/s004320000217

Cited by 17 publications

(16 citation statements)

References 32 publications

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“…However, there is no agreement in published reports on whether or not both methods (immunohistochemistry and direct sequencing) actually yield similar results. Whereas some publications report a high concordance between immunohistochemistry and sequencing, 38 others, reminiscent of the present study, identify a high rate of discordance. 39,40 In the present study, we used 2 different anti-p53 N-terminal antibodies (clone DO1 and DO7) for p53 immunohistochemistry, conducted by 2 different operators, yielding comparable results, thereby further reducing the possibility that technical discrepancies were the root cause for the discordance between immunohistochemical and sequencing results.…”

Section: Discussionsupporting

confidence: 50%

High prevalence of p53 exon 4 mutations in soft tissue sarcoma

Das

Kotilingam

Korchin

et al. 2007

Cancer

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Objective The contribution of genetics to osteoarthritis (OA) progression is not known. To gain more insight into whether familial factors play a role in disease progression of OA, we analyzed familial aggregation of radiologic OA progression in a study of sibling pairs (the Genetics, Arthrosis, and Progression [GARP] study). Methods A total of 105 white probands and their 105 siblings with OA at multiple joint sites were included in a prospective cohort study. Radiologic progression of OA was defined as a 1‐point score increase in total scores for severity of joint space narrowing (JSN) or osteophytes on standardized radiographs of the hands, knees, and hips obtained at baseline and after 2 years. Odds ratios were calculated for siblings and probands sharing radiologic disease progression. Results A total of 100 probands and 93 siblings were followed for 2 years (median age 60 years, 80% women). In 92 sibling pairs both the proband and sibling had complete radiographic followup. Radiologic progression of JSN and osteophytes was present in 47% and 42% of the probands and 34% and 37% of the siblings, respectively. The odds ratios (95% confidence intervals), adjusted for age, sex, and body mass index, of a sibling having radiologic progression if the proband had progression were 3.0 (1.2–7.8) for JSN progression and 1.5 (0.6–3.6) for osteophyte progression. A dose‐response relationship was found between the amount of increase in JSN total scores among probands and the progression of JSN in siblings. Conclusion Familial factors played a role in the radiologic progression of JSN over 2 years in patients with OA at multiple sites.

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Section: Discussionsupporting

confidence: 50%

High prevalence of p53 exon 4 mutations in soft tissue sarcoma

Das

Kotilingam

Korchin

et al. 2007

Cancer

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“…The histological features of this tumor are characterized by the existence of a large eosinophilic inclusion within the cytoplasm, eccentric nuclei, and prominent nucleoli, the so-called rhabdoid cells. These characteristic rhabdoid cells show various immunohistochemical proWles, such as epithelial, neural, neuroectodermal, and myogenic diVerentiation (Kinoshita et al 2001a;SchoWeld 2002;Oda and Tsuneyoshi 2006). The ultrastructural features of the inclusion reveal large whorled masses of intermediate Wlaments.…”

Section: Introductionmentioning

confidence: 99%

Highly aggressive behavior of malignant rhabdoid tumor: a special reference to SMARCB1/INI1 gene alterations using molecular genetic analysis including quantitative real-time PCR

Kohashi

Oda

Tamiya

et al. 2007

J Cancer Res Clin Oncol

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We could analyze the SMARCB1/INI1 gene alteration with simple methods, and SMARCB1/INI1 gene alteration was found in 12 of 14 cases. Especially, quantitative real-time PCR was a convenient and accurate method. In addition, a high rate of hyperphosphorylation of RB gene was recognized. These results suggest that the clinically aggressive character of MRT is caused by the inactivation of the SMARCB1/INI1 gene.

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“…The reported phosphorylation sites of CK8 are Codons 8,12,14,23,33,36,42, and 50 in the head and Codons 416, 423, 425, 431, 441, and 456 in the tail regions (45,46). Other phosphorylation sites have also been reported in the rod (Codon 290; 46).…”

Section: Discussionmentioning

confidence: 96%

“…As for clinical samples, all three frozen tissues, which had been previously diagnosed as MRT, were studied in our previous paper (23). Moreover, all cell lines have previously been described in published reports.…”

Section: Clinical Samples and Cell Linesmentioning

confidence: 99%

Mutation Analysis of Human Cytokeratin 8 Gene in Malignant Rhabdoid Tumor: A Possible Association with Intracytoplasmic Inclusion Body Formation

et al. 2002

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The rhabdoid cell, which is typically observed in malignant rhabdoid tumor (MRT) and other malignant neoplasms, has an eosinophilic cytoplasm containing a spheroid perinuclear inclusion body. This distinct cell is known to act as a highly aggressive indicator in many types of malignant tumors and is characterized by aggregates of intermediate filaments, comprising both vimentin and cytokeratin (CK) 8, which is mainly expressed in simple-type epithelium such as liver and intestine. To clarify the cause of the inclusion body formation, we analyzed the alteration of the complete human CK8 gene (KRT 8: 1724 base pairs) in seven samples of MRT (three from frozen materials and four from cultured cell lines) by reverse-transcriptase polymerase chain reaction, followed by direct sequencing. In addition, the two cell lines, Huh7 and HeLa, which lacked rhabdoid feature, six pediatric malignant tumors, including three cases of primitive neuroectodermal tumor (PNET) and three of Wilms' tumor; and 15 normal liver tissue (as a control) were also analyzed. All MRT samples had missense mutations in the human KRT 8 gene, i.e., Arg89 3 Cys (5/7); Arg 3 Cys251 (3/7); Glu267 3 Lys (6/7); Ser290 3 Ile, Met; (7/7) and Arg301 3 His(4/7), none of which was detected in any control samples. Among these mutations, the most noteworthy findings were that Arg89 belongs to the H1 subdomain of the head domain and that Arg251 belongs to the short nonhelical linker segment, or L1-2. Both these mutations are noted for their relationships to lateral protofilament-protofilament interactions. In addition, Ser290 has been previously reported to be a phosphorylation site, which has been recognized to play an important role in filament organization, leading to conformational change of the CK8 filaments. In conclusion, mutated codons of CK8 gene in MRT were located in the important region involved in the conformational change of intermediate filament.

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Mutations of the p53 gene in malignant rhabdoid tumors of soft tissue and the kidney: immunohistochemical and DNA direct sequencing analysis

Cited by 17 publications

References 32 publications

High prevalence of p53 exon 4 mutations in soft tissue sarcoma

High prevalence of p53 exon 4 mutations in soft tissue sarcoma

Highly aggressive behavior of malignant rhabdoid tumor: a special reference to SMARCB1/INI1 gene alterations using molecular genetic analysis including quantitative real-time PCR

Mutation Analysis of Human Cytokeratin 8 Gene in Malignant Rhabdoid Tumor: A Possible Association with Intracytoplasmic Inclusion Body Formation

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