1/390. Indeterminate-cell histiocytosis: immunophenotypic and cytogenetic findings in an infant.BACKGROUND: The authors report the immunohistochemical, ultrastructural, and cytogenetic findings in a case of malignant histiocytic proliferation in an infant. PROCEDURE: The patient presented initially with bone lesions without skin or systemic involvement. Multiple biopsies were studied extensively by immunohistochemistry and electron microscopy. Cytogenetic studies of cell cultures supplemented with granulocyte-monocyte colony stimulating factor (GM-CSF) were also performed. RESULTS: Morphologically, the cells resembled langerhans cells, although with greater pleomorphism, as evinced by cells with usual polylobated nuclei. These cells expressed markers for macrophages and antigen presenting cells and were CD1a- and S-100-positive, but lacked Birbeck granules. The cells grown in culture supplemented with GM-CSF showed a unique combination of numerical and structural abnormalities affecting chromosomes 1, 6, 8, and 10. The disease followed a malignant course leading to the patient's demise despite aggressive chemotherapy and bone marrow transplant. CONCLUSIONS: The findings suggest a malignant hematopoietic stem-cell neoplasm with a capacity for macrophage or dendritic-cell differentiation. Morphology and immunophenotypic features place this neoplasm within the group recently conceptualized as indeterminate-cell histiocytosis.- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/390. Clonal analysis of a case of multifocal oesophageal (Barrett's) adenocarcinoma by comparative genomic hybridization.Oesophageal adenocarcinomas arising in Barrett's epithelium occasionally present as multiple lesions. This could be due to either a multifocal presentation of the same tumour, or different neoplasms arising simultaneously in a dysplastic Barrett's oesophagus ('field cancerization'). This is a report of the genetic analysis of multiple neoplastic sites in a Barrett's oesophagus with an extensive area of dysplasia. In addition, the dysplastic Barrett's epithelium was evaluated. For the genetic screening, comparative genomic hybridization (CGH) allowed evaluation of the whole genome of each specimen. Five cancerous regions were selected and subsequently dissected from paraffin-embedded tissue blocks. The use of archival materials enabled a targeted collection of representative tumour locations. Multiple genetic aberrations were detected by CGH in all cancer sites. Losses on 3p, 4, 7q, 18q, and Y, as well as gains on 8q, 9q, 12p, 13q, 17q, 20p and X, were found in each specimen. In four out of the five lesions, simultaneous losses on 9p, 15q, and 16q, with concomitant gains on 5p, 7q, and 10p, were disclosed by CGH. Adjacent high-grade dysplastic Barrett's mucosa shared the losses on 3p, 4, 7q, 9p, 18, and Y, as well as the gains on 5p, 7q, 13q, 17q, and X, thereby confirming its precursor status. Within this single and rare case of multifocal Barrett's adenocarcinoma, a monoclonal genotype was present. This must have been caused by an extensive outgrowth of a single tumour.- - - - - - - - - - ranking = 203.93753163503keywords = carcinoma, neoplasm (Clic here for more details about this article) |
3/390. Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases.AIM: To find genetic alterations in PTC or other genes of the Shh/PTCH pathway in tumorous and non- tumorous samples from three families and to correlate them with the varying expression of disorders in presented nevoid basal cell carcinoma syndrome (NBCCS) phenotypes. METHOD: dna was extracted from archival paraffin-embedded tissues, tumor tissue or peripheral blood leukocytes, and the loss of heterozygosity (LOH) and single strand conformational polymorphism analysis was performed using PCR with primers for polymorphic 9q22.3 markers (D9S196, D9S287, D9S180, D9S127); PTCH exons 3, 6, 8, 13, 15, 16; and smo (smoothened) exon 1. G-banding tecnique was used for cytogenetic analysis of the peripheral blood lymphocytes. RESULTS: We found a LOH for PTCH in several cases and variability in smo in one case. In one case NBCCS could reasonably be ascribed to hemizygous PTCH inactivation, while in other two families this typical correlation between the syndrome phenotype and the observed genetic alterations could not been established. CONCLUSIONS: Further analysis of relatively sparse cases of NBCCS is needed before the symptoms of the syndrome could be convincingly explained by genetic alterations in the Shh/PTCH signalling pathway.- - - - - - - - - - ranking = 33.906255272505keywords = carcinoma (Clic here for more details about this article) |
4/390. Clonal karyotypic abnormalities in gynecomastia.gynecomastia is a benign condition that frequently occurs in the male breast gland; however, the cytogenetic data on this entity are very limited. To our knowledge, three cases have been reported in the literature, and the only one with an abnormal karyotype had a concomitant breast carcinoma. In this study we report clonal chromosomal alterations in a gynecomastia sample without any signs of adjacent malignant tissue. The nonrandom abnormalities observed were a deletion of 12p, monosomies of chromosomes 9, 17, 19, and 20, and the presence of a marker chromosome. Most of these alterations have been previously described in the literature in other breast lesions, including benign and malignant (male and female) tumors, indicating their recurrence and nonrandomness in abnormal processes of the mammary gland.- - - - - - - - - - ranking = 33.906255272505keywords = carcinoma (Clic here for more details about this article) |
5/390. Fifty-three month persistence of ring chromosome in noninvasive bladder carcinoma.In a recurrent noninvasive papillary carcinoma of the bladder cytogenetic analysis by the direct technique was carried out on cystoscopic biopsies obtained at 53 month intervals. Persistent similar karyotypic abnormalities including aneuploidy, and ring and other marker chromosomes, the hallmarks of invasive cancer, were present in both specimens. In the 1973 specimen, dna banding was identified in 35 per cent of the metaphases and in 56 per cent of the karyotypes. The continuing abnormal chromosomal silhouette of this tumor supports the stemline cell concept for malignancies, even when applied to such relatively benign neoplasms as this noninvasive carcinoma of the bladder.- - - - - - - - - - ranking = 203.93753163503keywords = carcinoma, neoplasm (Clic here for more details about this article) |
6/390. Unusual chromosome patterns of renal cell carcinomas common to two brothers.In this study, we describe two renal cell carcinomas (RCC) that occurred at the same time in two brothers, yielding information on the carcinogenic process. We used flow cytometry (FCM) to evaluate nuclear dna content, and performed cytogenetic analysis. We also carried out fluorescence in situ hybridization (FISH) with a panel of centromeric probes for chromosomes 3, 7, 8, 9, 12, 17, 20, and Y in interphase cells. flow cytometry analysis revealed diploid histograms in the tumor and "nonmalignant" samples of patient 1, while an aneuploid cell subpopulation was found in the tumor and "nonmalignant" samples of patient 2. Tumor samples from the two brothers were studied by FISH, and had common numerical chromosome aberrations: trisomy of chromosomes 3 and 7, and monosomy and trisomy of chromosomes 9 and 17. Moreover, in normal samples from both brothers, we found monosomy 9, and in a normal sample from patient 1, monosomy 17. cytogenetic analysis revealed trisomy 3 in some cells grown from normal kidney tissue of each brother. The identification of the same chromosome alterations in both brothers appears to provide evidence of an unusual process of carcinogenesis, probably due to a common genetic basis.- - - - - - - - - - ranking = 169.53127636253keywords = carcinoma (Clic here for more details about this article) |
7/390. Cytogenetic heterogeneity and clonal evolution in synchronous bilateral breast carcinomas and their lymph node metastases from a male patient without any detectable BRCA2 germline mutation.Two synchronous bilateral breast carcinomas and their matched lymph node metastases from a 70-year-old man were cytogenetically analyzed. All four tumors were near-diploid, and except for the primary tumor from the right breast, had a 45,X,-Y clone in common. The loss of the y chromosome was, however, common to all four tumors, whereas metaphase cells from peripheral blood lymphocytes showed a normal 46, XY chromosome complement. The primary tumor from the right breast was monoclonal, with loss of the y chromosome and gain of 1q, whereas its metastasis had two related clones: the 45,X,-Y clone, and the other a more complex version of the clone in the primary tumor, with inv(3), -14, and del(16)(q13) as additional changes. The primary tumor from the left breast was polyclonal with three unrelated clones: 45,X,-Y/45,XY,-18/47,XY, 20, two of which were present in its metastasis. dna flow cytometric studies showed diploidy for both primary tumors. No mutation in the BRCA2 gene was found on analysis of dna from peripheral blood lymphocytes. The present findings show that del(16)(q13) is a recurrent finding among male breast carcinomas and that some of the primary cytogenetic abnormalities, as well as the pattern of chromosomal changes during the progression of sporadic breast carcinoma in the male, are similar to those in the female. In addition, the loss of the y chromosome in the tumors but not in peripheral blood lymphocytes, suggests a possible role for this abnormality in the pathogenesis of male breast carcinoma.- - - - - - - - - - ranking = 271.25004218004keywords = carcinoma (Clic here for more details about this article) |
8/390. Recurrent anomalies of 6q25 in chondromyxoid fibroma.Chondromyxoid fibroma is a rare benign bone tumor most commonly arising in the metaphysis of long bones in young adults. Histopathologically, chondromyxoid fibroma may be difficult to distinguish from other cartilaginous neoplasms. Recently, a pericentric inversion of chromosome 6 [inv(6)(p25q13)] has been proposed as a specific genetic marker for chondromyxoid fibroma. In this study, cytogenetic and spectral karyotypic analyses of 2 chondromyxoid fibroma cases showed clonal abnormalities of chromosome 6 but at a breakpoint on the long arm (q25) distal to that described in the pericentric inversion. These findings suggest that several distinct breakpoints on chromosome 6 are nonrandomly involved in chondromyxoid fibroma.- - - - - - - - - - ranking = 0.5keywords = neoplasm (Clic here for more details about this article) |
9/390. Pediatric renal cell carcinomas: where do they fit in the new histologic classification of renal cell carcinoma?Genetic, immunohistochemical, and histologic data has led to the reclassification of renal cell carcinoma in the last decade. Recent studies suggest that renal cell carcinomas in children and young adults may represent a distinct group of tumors. These tumors have unique genetic findings (most commonly t(x;1)(p11:q21)), a predominantly papillary architecture, numerous calcifications, granular cytoplasm, and a possible relationship with neuroblastoma.- - - - - - - - - - ranking = 339.06255272505keywords = carcinoma (Clic here for more details about this article) |
10/390. Solid and cystic tumor of the pancreas: clinicopathologic and genetic studies of four cases.BACKGROUND: Solid and cystic tumor (SCT) of the pancreas can be distinguished from other pancreatic neoplasms by its nearly exclusive occurrence in young women, and its favorable prognosis after complete resection. methods: We experienced four cases with SCT of the pancreas, and analyzed these tumors by immunohistochemical and electron microscopic studies, as well as genetic analysis of ras oncogene mutation. RESULTS: The presented cases expressed the neuron-specific enolase in two cases, alpha1-antitrypsin and alpha1-antichymotrypsin in two cases, and vimentin in one case, which indicated that this tumor originates from pleuripotential embryonic stem cells. No patients had mutations of K-ras gene in codon 12, and further genetic analysis is required to predict the malignant potential. CONCLUSION: SCT of the pancreas appears to have limited malignant potential and the metastatic ratio is not high, although the tumor has local invasion. Therefore, an aggressive surgical approach seems fully justified.- - - - - - - - - - ranking = 0.5keywords = neoplasm (Clic here for more details about this article) |
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