Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The location of genes involved in tumor evolution has been inferred from experiments in which loss of constitutional heterozygosity has been detected in tumor DNA at high frequency in specific chromosome regions. For example, cytogenetic and molecular abnormalities on chromosome 1p have been reported in tumors such as malignant melanoma and neuroblastoma which arise in cells derived from embryonic neural crest tissue. To extend these observations, we have examined tumor DNA from three cases of Merkel cell carcinoma for evidence of loss of constitutional heterozygosity on the short arm of chromosome 1. In all three cases, heterozygous allelic deletions of varying extent on distal chromosome 1p were detected in tumor DNA. Comparisons with neural crest tumors suggest that loss of heterozygosity on distal chromosome 1p in Merkel cell tumors may be a marker of neural crest origin.
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PMID:Loss of allelic heterozygosity on distal chromosome 1p in Merkel cell carcinoma. A marker of neural crest origins? 167 9

The gene for the human p58 protein kinase, a cell division control-related gene, has been mapped by somatic cell hybrid analyses, in situ localization with the chromosomal gene, and nested polymerase chain reaction amplification of microdissected chromosomes. These studies indicate that the expressed p58 chromosomal gene maps to 1p36, while a highly related p58 sequence of unknown nature maps to chromosome 15. Assignment of a p34cdc2-related gene to 1p36 may have implications for numerous tumors that involve deletion of this region, including neuroblastoma, ductal carcinoma of the breast, malignant melanoma, Merkel cell carcinoma, and endocrine neoplasia.
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PMID:Localization of the expressed human p58 protein kinase chromosomal gene to chromosome 1p36 and a highly related sequence to chromosome 15. 177 66

Molecular characterization of neuroendocrine (Merkel cell) carcinoma of the skin. Review of the literature and report of three cases. Although neuroendocrine carcinoma of the skin (NECS) is comparatively a rare clinical-histological entity, numerous morphological and ultrastructural studies have been carried out since the tumor was identificated by Toker (1972). Recently immunocytochemistry has allowed a better molecular characterization (immunophenotype) of this tumor and a more exact diagnosis. The main problem for the pathologist is the differential diagnosis between NECS and skin neoplasms--both primitive and metastatic--which require a more aggressive treatment. Often the classical morphological criteria do not distinguish NECS from non-Hodgkin's lymphoma, amelanotic melanomas, cutaneous metastases of lung small cell carcinoma or of neuroblastoma. The co-expression of cytokeratins and neurofilaments constantly found in NECS, is surely the best differential criterion from non-neuroendocrine carcinomas. Furthermore, the typical paranuclear location of both the intermediate filaments in NECS is a distinctive peculiarity as opposed to lung microcytoma, where cytokeratins and neurofilaments, when present, show widespread perinuclear positivity. Chromogranin A is found only in a small percentage of tumor cells, whilst synthesis of calcitonin, somatostatin, gastrin, ACTH, is very rare. Finally, the lack of common leukocyte antigen (CLA), S-100 protein and vimentin in NECS rules out the diagnoses of lymphoma, melanoma and sarcoma respectively.
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PMID:[Molecular characterization of cutaneous neuroendocrine (Merkel cell) carcinoma. Review of the literature and presentation of a caseload]. 209 Oct 10

A case of trabecular carcinoma of the skin that resulted in prequarter amputation of the arm for local tumor aggressiveness is presented. The tumor was originally diagnosed as metastatic, most probably neuroblastoma, leading to inadequate local resection that resulted in recurrence with extensive regional nodal metastases. The importance of recognizing trabecular carcinoma as a primary tumor of the skin with a potential for recurrence and metastasis is underscored, primarily since initial total excision with adequate margins of resection has proven in most instances to be curative.
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PMID:Trabecular carcinoma of the skin simulating metastatic disease. 372 97

A case of trabecular carcinoma of the skin in a 62 year old Caucasian male is reported. The lesions occurred on the face, ear, chest, abdominal wall, and the upper extremity over a period of four years. At the light microscopic level the lesions were confused with metastatic carcinoma, lymphoma, and adult neuroblastoma. Ultrastructural study revealed the presence of not only neurosecretory granules but also premelanosomes in the tumor cells.
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PMID:Trabecular carcinoma of the skin: a case report. 730 32

We report the light microscopic and immunohistochemical features of vascular proliferations associated with 26 extracranial neural and neuroendocrine neoplasms including esthesioneuroblastoma, neuroblastoma/ganglioneuroblastoma, the primitive neural component of immature teratoma, mediastinal teratoma, primitive neuroectodermal tumor, intra-abdominal desmoplastic small cell tumor, Merkel cell carcinoma of the skin, and thyroid medullary carcinoma. These vascular proliferations were similar to those associated with high-grade glial neoplasms and were characterized by tufts of vessels with a glomeruloid configuration or by long cords of vessels. Immunohistochemical evaluation documented the presence of endothelial cells, perithelial cells, and basement membrane components within the foci of proliferating vessels. We propose that these vascular proliferations represent a characteristic feature of the neuroendocrine/neural neoplastic phenotype and that they possibly arise as the result of angiogenic factors produced by the neoplastic cells. The presence of these distinctive vascular lesions in the stroma of a poorly differentiated neoplasm should alert the pathologist to the possibility of the neoplasm being of a neural or neuroendocrine nature.
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PMID:Florid vascular proliferation associated with neural and neuroendocrine neoplasms. A diagnostic clue and potential pitfall. 877 95

A case of Merkel cell tumour that developed on the left upper lid of a 76-year-old white man is reported. The diagnosis was ultrastructurally made by demonstrating characteristic light microscopic features of Merkel cell carcinoma; such as large, round nuclei and frequent mitoses. Immunohistochemically, the tumour cells were shown to possess simple epithelia-type keratin intermediate filaments. Merkel cell tumour probably develops from precursor cells which give rise to keratinocytes and Merkel cells, and nearly one out of 10 Merkel cell tumours occur in the eyelid and periocular region. They tend to be bulging lesions near the lid margin of elderly patients. The condition can be misdiagnosed as lymphoma, oat cell carcinoma, malignant melanoma, sweat gland tumours, neuroblastoma and Ewing's sarcoma, and frequently invades lymphatic vessels. Nearly one out of three Merkel cell tumours recur and two thirds cause regional lymph node metastases. Wide surgical resection and reconstructive procedures, should be followed by routine postoperative irradiation. This patient was treated with wide resection and the Cutler-Beard technique, then scheduled for radiotherapy.
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PMID:Merkel cell tumour of the eyelid and reconstruction with the Cutler-Beard technique: a clinicopathologic case report. 792 66

Merkel cell carcinoma (MCC) is a malignant tumor of the skin with a well-established neuroendocrine phenotype but an unknown histogenetic origin. Cytogenetic and molecular studies have shown evidence for genetic changes on the distal portion of chromosome 1p in different tumors with well-established neuroendocrine origins, specifically neuroblastomas, malignant melanomas, and pheochromocytomas. Involvement of chromosome 1 in MCC recently has been demonstrated by cytogenetic analysis and analysis of loss of heterozygosity (LOH) in metastatic tumor tissue. We performed analysis of LOH of the distal portion of chromosome 1p in paraffin material of 10 primary MCCs after tissue microdissection, using the polymorphic markers D1S160, D1S243, D1S468, D1S1646, and D1S1598. Seven of 10 analyzed MCCs shared a distal deletion involving 1p35-36. None of the cases showed 1p involvement proximal to 1p35. The findings are similar to those described for malignant melanoma, pheochromocytoma, and neuroblastoma, tumors known to originate from neural crest cells. In conjunction with previous cytogenetic data, we conclude that Merkel cell carcinogenesis shares pathogenetic mechanisms with other neoplasms of neural crest derivation.
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PMID:Genetic changes associated with primary Merkel cell carcinoma. 957 74

Merkel cell carcinoma (MCC) is a rare aggressive neuroendocrine tumor of the skin. Only little information is available on the genetic alterations occurring in this tumor. Cytogenetic studies thus far have not shown recurrent chromosomal changes, although various structural chromosome 1 rearrangements, including deletions, often leading to loss of distal 1p material appear to be frequent. We report on fluorescence in situ hybridization and loss of heterozygosity analyses of an MCC tumor and MCC cell line UISO. The present study has shown that two distinct regions in the most distal band 1p36 on the short arm of chromosome 1 can be implicated in MCC. One region at 1p36.3 was delineated by a distal deletion in the MCC tumor as a result of an unbalanced translocation, resulting in loss of all markers distal to ENO1. This region was previously shown to be deleted in different tumor types including neuroblastoma. In cell line UISO an insertion in 1p36.2 was identified. The insertion breakpoint indicates a second, more proximal, region on 1p involved in MCC. The insertion breakpoint was mapped within a cluster of repetitive tRNA and snRNA genes and thus could coincide with the constitutional 1p36 breakpoint previously reported in a patient with neuroblastoma.
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PMID:Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas. 971 99

The p73 gene has been mapped to 1p36.33, a region which is frequently deleted in a wide variety of neoplasms including tumours of neuroectodermal origin. The p73 protein shows structural and functional homology to p53. For these reasons, p73 was considered as a positional and functional candidate tumour suppressor gene. Thus far, mutation analysis has provided no evidence for involvement of p73 in oligodendrogliomas, lung carcinoma, oesophageal carcinoma, prostatic carcinoma and hepatocellular carcinoma. In neuroblastoma, two mutations have been observed in a series of 140 tumours. In view of the occurrence of 1p deletions in Merkel cell carcinoma (MCC) and the location of p73 we decided to search for mutations in the p73 gene in five MCC cell lines and ten MCC tumours to test potential tumour suppressor function for this gene in MCC. In view of the possible complementary functions of p73 and TP53 we also examined the status of the TP53 gene. Sequence analysis of the entire coding region of the p73 gene revealed previously reported polymorphisms in four MCCs. In one MCC tumour, a mis-sense mutation located in the NH2-terminal transactivation region of the p73 gene was found. These results show that p73, analogous to neuroblastoma, is infrequently mutated in MCC. This is also the first report in which the role of TP53 in MCC has been investigated by sequencing the entire coding region of TP53. TP53 mis-sense mutations and one non-sense mutation were detected in three of 15 examined MCCs, suggesting that TP53 mutations may play a role in the pathogenesis or progression of a subset of MCCs. Moreover, typical UVB induced C to T mutations were found in one MCC cell line thus providing further evidence for sun-exposure in the aetiology of this rare skin cancer.
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PMID:Mutation analysis of P73 and TP53 in Merkel cell carcinoma. 1073 53


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