ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Immunoglobulin heavy chain gene (IgH) rearrangement was studied in a patient showing the occurrence of classical Hodgkin disease and large B-cell lymphoma (LBCL) in the same lymph node. The VHDHJHregion was amplified by polymerase chain reaction, the template being the DNA extracted from single Hodgkin and Reed-Sternberg and LBCL cells, microdissected on hematoxylin-eosin–stained sections by laser capture. A repeated VH4DH3JH4segment was found in Reed-Sternberg cells, whereas a repeated VH3DH3JH4segment was observed in LBCL cells. Rearranged VHgenes carried somatic mutations in both populations, indicating a common germinal center cell origin. The IgH rearrangement found in clonally related Reed-Sternberg cells differed from the one of LBCL cells in the VHregion but showed the same JHand DHsegments with no variation from the respective germline sequence. The DH–JHjunction is the first immunoglobulin gene segment rearranged in precursor B cells. Because the possibility of secondary Ig gene rearrangement in peripheral lymphoid organs has recently been reported, in the patient described here Reed-Sternberg and LBCL cells might originate from a common precursor in which secondary VHreplacement took place during the germinal center reaction, giving rise to two different clonally related lymphomas.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

A pleomorphic undifferentiated tumor primarily located in the retroperitoneum with a phenotype compatible with an extraosseous Ewing tumor/peripheral primitive neuroectodermal tumor (ET/pPNET) pattern and unusual molecular features is described. Immunohistochemically, HBA-71 (CD99/mic2) and several neural markers were intensively expressed together with scattered cells expressing carcinoembryonic antigen (CEA). Short-term culture showed biphasic neuroblastic and epithelioid cell populations, with the latter expressing germ cell markers (CEA, &agr;-fetoprotein, and the &bgr;-subunit of chorionic gonadotrophin). Conventional cytogenetics displayed several chromosomic rearrangements, especially a complex translocation t(17,2,22,13) (q21:q11→q33::q12→q13::q14). These structural abnormalities were confirmed using fluorescence in situ hybridization analysis. Molecular studies revealed EWS-FEV fusion transcripts (exon 7 of the EWS gene and exon 2 of the FEV gene). In addition, a new p53 mutation not previously reported in ET/pPNET involving exon 5 codon 138: GCC to GAC (Ala/Asp) was detected.In our case, we emphasize the presence of atypical features not only from the phenotypic point of view but also at the genetic level as well as the value of detecting such markers in the differential diagnosis with other abdominal pleomorphic tumors.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

The t(X;18) translocation is known to be a useful marker for the diagnosis of synovial sarcoma. In this study, the authors describe a new real-time reverse transcriptase–polymerase chain reaction (RT-PCR) method to detectSYT/SSXfusion transcripts using paraffin-embedded and frozen tumor specimens. A series of 38 soft tissue sarcomas were analyzed. Diagnosis was based on clinical, histologic, and immunohistochemical examination. The fusion transcripts were detected in 16 of 17 synovial sarcoma samples (the 17th sample was not suitable for molecular analysis). No t(X;18)-fusion transcript was PCR-amplified in the 21 nonsynovial sarcoma mesenchymal tumors. Therefore, real-time PCR amplification appears to be a powerful, rapid, specific, and sensitive technique that can be used routinely to diagnose the synovial sarcoma t(X;18) translocation. In addition, the t(X;18) can be detected not only on frozen but also on paraffin-embedded tumor samples.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Chondrosarcoma is the second most common primary malignant neoplasm of bone in adults, but the major genetic events involved in the progression of this often-fatal cancer remain to be elucidated. Loss of heterozygosity of chromosome 10q has been reported in 67% of chondrosarcoma. The tumor suppressor gene PTEN is located on chromosome 10q, specifically 10q23, raising the possibility that the loss of PTEN function is responsible for some chondrosarcomas. The authors examined 40 chondrosarcoma tumors and tumor-derived cell lines for alterations in PTEN. Only one mutation resulting in a truncated PTEN protein was detected, which was in a metastasized extraskeletal myxoid chondrosarcoma. Thus, mutated PTEN is an uncommon event in the development of chondrosarcoma. The high frequency of loss of heterozygosity on 10q suggests the presence of additional tumor suppressor genes at these loci.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

In this study the authors applied a reverse transcription–polymerase chain reaction (RT-PCR) assay to detect hepatitis C virus (HCV) RNA in 15 frozen liver biopsy samples from anti-D-treated patients. They also correlated the presence or absence of HCV RNA in the serum and liver of each patient with their histologic gradings. RNA was extracted from 36 frozen liver biopsy samples. These included 15 liver biopsy samples from patients infected with HCV through contamination of anti-D blood products. Three of these 15 anti-D-treated patients were receiving alpha–interferon treatment at the time of liver biopsy. Nine frozen liver biopsy samples from patients with a history of intravenous drug abuse were included as positive controls. HCV-negative frozen liver biopsy samples from 12 noninfected patients were used as negative controls. RNA was also extracted from six frozen skin biopsy specimens to check for cross-contamination of samples. Eleven of 15 anti-D-treated patients were HCV RNA positive by RT-PCR, with 100% correlation between HCV RNA in the serum and liver. The nine frozen liver biopsy samples from the intravenous drug abuse patients (positive controls) were also RT-PCR positive for HCV RNA. The 12 noninfected samples and the negative control biopsy samples were negative for HCV. Twenty-seven percent of the recombinant immunoblot assay-positive patients were serum and liver HCV RNA negative. HCV-positive patients receiving alpha-interferon therapy at the time of biopsy had cleared the virus from the serum and the liver. There was no correlation between the presence or absence of serum and liver HCV RNA with the histologic grading. This lack of correlation shows clearly the importance of histopathologic evaluation of liver biopsy samples in monitoring HCV-associated liver disease progression. In addition, this finding indicates that one cannot rely only on the presence or absence of HCV RNA in either serum or liver tissue as a parameter in monitoring HCV-associated liver disease progression in this unique cohort of anti-D-treated patients.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Suppression of apoptosis is important for carcinogenesis and tumor growth. Recent studies revealed that survivin not only inhibited apoptosis but also accelerated cancer cell proliferative activity. To investigate the prognostic role of expression of the antiapoptosis gene,survivin, in hepatocellular carcinoma (HCC), the authors analyzed the correlation between the expression pattern ofsurvivinmessenger RNA (mRNA) and clinicopathologic findings of patients. Tissues were obtained by surgical resection of livers from 51 patients with HCC and 6 patients without HCC. Expression ofsurvivinmRNA was evaluated using reverse transcription-polymerase chain reaction in 51 tumors, 51 adjacent histologically noncancerous livers, and 6 normal livers. Survivin protein expression was evaluated using Western blotting, and apoptotic cancer cells were detected by immunostaining with polyclonal rabbit anti-single-stranded DNA.SurvivinmRNA expression was detected in 21 of 51 (41%) tumors, 2 of 51 (4%) noncancerous livers, and none of the 6 normal livers.SurvivinmRNA expression did not correlate with tumor size or stage of HCC. Percentage of apoptotic cancer cells of 30survivinmRNA-negative tumors (5.2 ± 3.4%) was significantly higher than that of 21survivinmRNA-positive tumors (2.2 ± 2.3%,P= 0.0019). The disease-free 5-year survival rate of 21 patients positive forsurvivinmRNA (19%) was significantly poorer than that of 30 patients negative forsurvivinmRNA (39%,P= 0.0148).SurvivinmRNA was detected in 57% (17/30) patients with HCC recurrence but in only 19% (4/21) of patients without recurrence (P= 0.0072). These results indicated thatsurvivinmRNA expression could be used as an independent prognostic factor for patients with HCC after hepatectomy.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Archival pathologic specimens are a rich source for the studies of hereditary diseases, cancer genetics, and identification cases in forensic science. In this study, the intraindividual consistency of eight identifying microsatellite polymorphisms (i.e., HMTH01, vWFA31, F13A, MITMH26, FES-FPS, CD4, TPOX, CSF1PO)in a cohort of 40 patients with invasive breast carcinoma were analyzed. Nests of cancer and adjacent morphologically normal ductal–lobular structures (TDLUs) were microdissected as discrete regions from hematoxylin-eosin–stained slides. As controls for each case, DNA templates were prepared from TDLUs located in nontumor quadrants and from unaffected breast skin. Over 1,400 carefully controlled PCR reactions were reviewed, and no evidence was found for microsatellite mismatches among intraindividual cancer and control DNAs. The negative results, supported by validation experiments, strongly argue that alterations of simple repeats are rare somatic events during the onset and progression of breast cancer.This study suggests that PCR artifacts may be a relevant cause of misdiagnosis of microsatellite instability in human sporadic cancer.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID

摘要:

Interphase fluorescence in situ hybridization (I-FISH) using labeled nucleic acid probes detects chromosomal and genetic aberrations at a cellular level. I-FISH is a relatively fast and sensitive technique for evaluating a large number of cells and revealing more specific information than other techniques. It has been proven to be an invaluable molecular test in cytologic analyses for the detection of subtle genetic alterations that correlate with disease progression. In this postgenomic era, with the draft of the human genome available and expansion of the knowledge of tumor-specific genetic changes, the application of I-FISH probes in cytologic analysis should be of great value in the early detection, risk assessment, and monitoring of therapy efficacy in cancer. Here, we outline the principle of the I-FISH procedure, present suggestions to efficiently analyze cytologic materials, provide examples of practical applications, and discuss new aspects of the technique.

ISSN:1052-9551    

出版商:OVID    

年代:2002

数据来源: OVID