1/18. In vivo selective expansion of a tumour-specific cytotoxic T-cell clone derived from peripheral blood of a melanoma patient after vaccination with gene-modified autologous tumour cells.melanoma-specific cytotoxic T lymphocytes (CTL) can be generated from peripheral blood lymphocytes (PBL) by mixed lymphocyte-tumour cell cultures. Analysis of CTL precursor frequencies in peripheral blood of melanoma patients is generally used for immunomonitoring purposes to evaluate vaccination efficacy. At present, it is unclear whether PBL-derived CTL generated in vitro are indicative of an anti-tumour immune response in vivo. Three tumour-specific human leucocyte antigen (HLA)-B/C-restricted CTL clones were derived from peripheral blood of a melanoma patient immunized with interleukin-7 (IL-7) gene-modified tumour cells. CTL clones differing in their T-cell receptor-gamma (TCRgamma) rearrangement produced interferon-gamma, IL-4 and/or IL-10. On the basis of their unique TCRgamma gene rearrangements clone-specific primers were generated for detection of clone-specific dna by polymerase chain reaction. One CTL clone (E5) of the three was found to be selectively expanded in one of seven metastases obtained at autopsy, as determined by Southern blot hybridization. However, the presence of E5 in only one of seven metastases at death indicates that the in vivo accumulation of the specific CTL clone was not sufficient to contain tumour progression. Nevertheless, our data support the proposition that analysis of anti-tumour activity of PBL-derived CTLs may reflect an anti-tumour immune response in vivo.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/18. An isochromosome 6p in a primary meningeal malignant melanoma.The rearrangement of chromosome 6, particularly the deletion of 6q, has been observed in human malignant melanoma with or without brain metastases. The isochromosome 6p has also been described. In this study, we report the cytogenetic analysis of a primary malignant melanoma of the central nervous system. Its dominating karyotype was 47,XX, i(6)(p10). fluorescence in situ hybridization (FISH), using a 6p chromosome arm probe, confirmed the structure of the isochromosome. To our knowledge, this is the first report of this type of chromosomal aberration in an uncommon neoplasm of leptomeningeal melanocytic origin.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/18. c-MYC and nodular malignant melanoma. A case report.BACKGROUND: The incidence of skin cancer has been rising since the 1950s. About 75% of skin cancer-associated deaths are caused by malignant melanoma. Nodular malignant melanoma accounts for 20% of melanocytic malignant tumors and is associated with a relatively poor prognosis. Extensive research has been undertaken, but a molecular marker that can predict a more aggressive course of melanoma still has not been found. methods: The authors applied cytogenetic and molecular genetic techniques to a case of nodular malignant melanoma. They used comparative genomic hybridization (CGH) to identify chromosomal regions affected by genomic changes and interphase fluorescence in situ hybridization (FISH) on touch preparations of the tissue to elucidate the CGH findings further. To investigate the functionality of the affected c-MYC gene, the authors detected its transcript via reverse transcription and polymerase chain reaction. RESULTS: CGH revealed a copy number gain in the 6p and 8q24-8qter region. FISH with c-MYC and centromere eight specific probes revealed that the tumor, in contrast to unaffected skin, was characterized by a gain in copy numbers of the c-MYC gene. The c-MYC gene transcript was detected at higher levels in the tumor than in the tissue taken from the safety margin. CONCLUSIONS: The WAF1 gene located on chromosome 6p, which in this case had a copy number gain, might be involved in melanoma pathogenesis. The authors suggest that the c-MYC gene plays an important role in melanoma development and progression. The c-MYC gene seems to be affected by gaining functional copies, leading to a change in the normally regulated gene-dose effect.- - - - - - - - - - ranking = 2keywords = hybridization (Clic here for more details about this article) |
4/18. Application of molecular cytogenetic techniques in a case study of human cutaneous metastatic melanoma.Consistent structural chromosome rearrangements have rarely been identified in adult solid tumors. The introduction of advanced molecular cytogenetic techniques has provided new ways of analyzing highly complex karyotypes commonly encountered in these malignancies. This study describes a detailed molecular cytogenetic analysis of a sporadic human cutaneous melanoma biopsy, M92-047, using a combination of G-banding, fluorescence in situ hybridization (FISH), chromosome microdissection, and comparative genomic hybridization (CGH). G-banding revealed that this tumor was composed primarily of closely related near-diploid and near-tetraploid cell subpopulations containing several clonal numerical and structural chromosome alterations. fluorescence in situ hybridization using whole chromosome painting probes and chromosome arm painting probes, was employed to verify the rearranged chromosomes; dic(1;4), der(8)t(1;8), and der(15)t(6;15), whereas marker chromosomes dic(8;1;16), der(12)t(9;12), and der(17)t(13;17) were discerned by chromosome microdissection and subsequent reverse in situ hybridization (rev ish) analysis. comparative genomic hybridization illustrated dna copy number changes in good agreement with the karyotypic analysis. Although this line exhibits recurrent alterations representative of melanoma, two unique breakpoints--1p13 and 8p21--were identified in two different rearranged chromosomes, suggesting potentially important regions for further dissection by molecular genetic techniques. This report demonstrates the advantages of combining multiple techniques in order to obtain a detailed description of cytogenetic changes in melanoma.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
5/18. Spitzoid malignant melanoma with lymph-node metastasis. Is a copy-number loss on chromosome 6q a marker of malignancy?Distinction of spitzoid malignant melanomas (SMM) from Spitz nevi may be difficult or even impossible on the basis of conventional histology. In this report, a patient suffering from a primary lesion diagnosed as a Spitz nevus and a metastatic malignant melanoma approximately 4 years thereafter is described. A diagnosis of SMM was made subsequently upon review of the primary lesion. In the present analysis, we used comparative genomic hybridization (CGH) to define markers characteristic of SMM. The primary lesion revealed deletions on chromosomes 6q and 9p. In the metastasis, additional deletions on chromosomes 10p and 10q and gains of chromosome 7 were found. To our knowledge, no chromosomal aberration on chromosome 6 was hitherto demonstrated in benign melanocytic nevi. Findings reported in the literature suggest that human melanoma metastasis suppressor gene maps to 6q. In contrast, losses on chromosome 9p seem to be an early event in the development of melanoma. However, they are not only found in melanomas but are occasionally present in Spitz nevi as well as in atypical nevi. The CGH result with deletion of 6q in this difficult to diagnose primary melanocytic lesion strongly supports the diagnosis of malignant melanoma. To demonstrate the reliability of loss on chromosome 6q as a marker of SMM, a larger number of lesions must be investigated.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
6/18. Maternal pulmonary adenocarcinoma metastatic to the fetus: first recorded case report and literature review.We report the first maternal pulmonary adenocarcinoma metastatic to the fetus as well as an updated literature review. review of the literature revealed that there have been only 67 cases of maternal malignancy metastatic to the products of conception. These were mostly malignant melanoma and hematopoietic tumors. A 46-year old multiparous woman with metastatic pulmonary adenocarcinoma, diagnosed at 23 weeks gestation, delivered a male infant who appeared normal at birth. The mother died 2 days after delivery. The child developed multiple scalp tumors a 2 weeks of age. The tumors recurred rapidly after initial resection. Wide local excision of the involved scalp and skin graft coverage was performed at 14 weeks of age. Histopathology of these tumors was identical to that of the maternal tumor. The maternal origin of these tumors was confirmed by fluorescence in situ hybridization (FISH). The child is now 5 years old and free of disease.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/18. Clear cell sarcoma of the stomach.AIM: Clear cell sarcoma is a high-grade sarcoma with morphological features resembling malignant melanoma. This tumour is reported to display a characteristic distribution pattern nearly always involving the extremities. We report the first case of clear cell sarcoma of the stomach. methods AND RESULTS: A 30-year-old male developed a huge tumour of the stomach, which at first glance could be considered as a poorly differentiated carcinoma. Immunohistochemical and ultrastructural examinations were consistent with a diagnosis of metastatic melanoma. However, cytogenetic examination revealed a t(12;22) translocation, specific for clear cell sarcoma. This was confirmed by fluorescence in-situ hybridization. CONCLUSION: Making a reliable diagnosis of clear cell sarcoma of the stomach requires cytogenetic or molecular diagnostic investigations, particularly to rule out metastatic melanoma. This diagnosis avoids an unnecessary search for a primary melanoma.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/18. Two cases of unusual acral melanocytic tumors: illustration of molecular cytogenetics as a diagnostic tool.The differential diagnosis between benign Spitz nevus and malignant melanoma may present considerable difficulties in some cases. Here we report 2 unusual melanocytic tumors with spitzoid features developing in acral sites of Japanese patients to illustrate the use of comparative genomic hybridization (CGH) to classify these lesions. Case 1 was a 12-mm-thick, >2 cm-diameter nodule on the sole of a 37-year-old man. Case 2 was a subungual tumor of the left index finger in a 13-year-old boy. CGH showed absence of chromosomal aberrations in case 1 and multiple aberrations in case 2, including focused amplification as previously described in acral melanomas. Case 1 was free of disease after 2.5 years of follow-up, whereas case 2 developed lymph node metastasis. We conclude that molecular techniques such as CGH can be of diagnostic help in the classification of histologically ambiguous lesions.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/18. Differential diagnosis of non-epithelial tumors of the pancreas: malignant non-epithelial pancreatic tumor with focal pigmentation.Non-epithelial tumors only rarely affect the pancreas. In this report, we describe a malignant non-epithelial tumor with combined characteristics of malignant peripheral nerve sheath tumor (MPNST) and malignant melanoma. To more closely define the differential diagnosis of MPNST with focal pigmentation versus metastatic melanoma resembling MPNST, the tumor was investigated using histomorphology, immunohistochemistry, electron microscopy, and comparative genomic hybridization. As a result, from these analyses and from clinical findings, the diagnosis of a pancreatic MPNST with focal pigmentation was favored. However, the diagnosis of a malignant melanoma or a composite tumor could not be definitely ruled out, due to the considerable morphological and genotypical overlap between both entities, which can be explained by the close histogenetic relationship between both tumor entities.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
10/18. Multiple inverted follicular keratoses as a presenting sign of Cowden's syndrome: case report with human papillomavirus studies.Inverted follicular keratosis is characterized by a squamous epithelial expansion of the infundibular portion of the hair follicle in an exophytic and endophytic pattern. The lesion is often associated with squamous eddies similar to an irritated keratosis and may have a superficial papillomatous architecture. The lesion most often arises as a solitary nodule on the face of middle age to elderly individuals. Inverted follicular keratosis has been described as a distinct entity by some while others believe that it is related to trichilemmomas and/or verruca vulgares. The cutaneous pathology of Cowden's syndrome is characterized by multiple trichilemmomas. We present a woman who fulfills the clinical criteria for Cowden's syndrome and who initially presented with multiple inverted follicular keratoses. Also, in situ hybridization studies performed on the patient's keratoses do not reveal evidence of human papillomavirus infection.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
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