Cases reported "Adenoma"

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1/22. Nephrogenic adenoma: A rare bladder tumor in children.

    OBJECTIVE: Nephrogenic adenomas of the urinary bladder are rare benign tumors in children. The purpose of our study was to obtain information about the sex distribution, presenting symptoms, intravesical locations, therapy and recurrence rates in pediatric nephrogenic adenomas. patients AND methods: The records of 3 children with nephrogenic adenoma of the urinary bladder diagnosed between 1990 and 1997 were reviewed to evaluate the initial symptomatology, diagnostic examinations and findings, therapeutic procedures and clinical outcome and recurrence rates. Furthermore our data are compared to the findings of all children reported in the literature. RESULTS: Including the 3 cases reported by us, the data on 18 children with nephrogenic adenoma of the bladder could be analyzed. There was a significant predominance of girls compared to boys (5:1); the medical history in all cases was remarkable for previous bladder surgery 3 months to 7 years prior to tumor diagnosis. Most children presented with unspecific symptoms of gross hematuria, dysuria and bladder instability and in all cases the final diagnosis was established after cystoscopy and histopathologic review of a tumor biopsy specimen. Therapy consisted of transurethral resection in 15 cases, partial cystectomy and open excision in 2 and 1 case, respectively. Tumor recurrence developed in 80% of the children with a latency period of 4 years. CONCLUSIONS: Nephrogenic adenomas represent an epithelial response of the urothelium to chronic inflammation or previous trauma resulting in urothelial metaplasia and the development of papillary lesions. Current treatment of choice consists of transurethral resection and fulguration of the base of the tumor and periodic cystoscopy.
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ranking = 1
keywords = instability
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2/22. Comparative microsatellite analysis in discerning origin of disseminated tumor: the case of a patient with malignant ascites and a history of multiple tumors.

    The origin of metastatic carcinoma is now always easily resolved on the basis of conventional dinical and pathological parameters, particularly in patients with more than 1 primary tumor. When 1 of the tumors is a renal cell carcinoma, the clinical picture is further confounded by the tendency of these tumors to be locally silent, to metastasize to unusual sites, and to disseminate long after removal of the primary tumor. We compared tumors for loss (ie, deletion) of loci on chromosomal arms 3p, 5q, 11q, and 18q in a patient with a malignant ascites fluid, a remote history of renal and colonic neoplasms, and a strong clinical suspicion of disseminated gastrointestinal adenocarcinoma. DNA from microdissected tumors and normal tissues was subjected to polymerase chain reaction-based microsatellite analysis. Even though the clinical picture suggested a gastrointestinal origin, comparison of genetic alterations clearly showed that the malignant ascites represented recurrence of the renal cell carcinoma. The malignant ascites and the primary renal cell carcinoma showed identical patterns of allelic loss at all loci tested. In contrast, the malignant ascites and colonic adenoma showed discordant patterns of allelic loss. Comparative microsatellite analysis provides a rapid genetic approach for discerning the origin of metastatic tumor spread. This may be a useful diagnostic adjunct when tumor origin is not clear on clinical or morphological grounds. In some instances, it may even provide a reasonable alternative to an extensive and costly conventional work-up.
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ranking = 281.77460237613
keywords = microsatellite
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3/22. Ulcerative colitis patients with a family history of colorectal cancer should be subjected to close and careful surveillance.

    We report two cases affected by neoplasia after colectomy with ileo-rectal anastomosis (IRA) with a positive family history of colon cancer. Case 1, a 41-year-old ulcerative colitis (UC) patient, underwent IRA in 1977. In 1986, biopsies showed high-grade dysplasia. She underwent resection of the rectal stump in 1986. Submucosal invasive carcinoma was found in the surgical specimen. The immunohistological study demonstrated p53 protein overexpression in the neoplastic lesion. Her family history fulfilled the Amsterdam criteria of hereditary non-polyposis colorectal cancer (HNPCC). Case 2, a 47-year-old UC patient, underwent ascending colostomy in 1975 and the following year IRA. Endoscopic mucosal resection (EMR) for a sessile adenoma was performed in 1995 and subsequently polypectomy was performed for the residual tumor. Recurrent adenoma and dysplasia in another area were detected. The immunohistological study demonstrated p53 protein overexpression only in dysplasia. Renal cancer in the right kidney was detected. Resection of the rectal stump with ileal pouch-anal anastomosis (IAA), loop ileostomy and right nephrectomy were performed in 1998. Her mother and her mother's sister had been diagnosed with colon cancer. Only in the dysplastic lesion did we detect microsatellite instability at D5S644. Both cases with neoplasia had two relatives with colorectal carcinoma. In 33 cases with UC who had been followed up, 30 cases (96.8%) without neoplasia had no family history of colorectal carcinoma. These findings suggest that UC patients with a family history of colon cancer should be put under close surveillance. It should also be emphasized that IAA is the procedure of choice for UC patients with this particular condition.
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ranking = 426.19786773649
keywords = microsatellite instability, microsatellite, instability
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4/22. microsatellite instability in sporadic parathyroid adenoma.

    Parathyroid adenomas are usually benign uniglandular tumors, and inactivation of several tumor suppressor genes, notably the MEN 1 gene, or activation of oncogenes have been implicated in the tumorigenesis. genomic instability, indicative of the involvement of dna mismatch repair genes, has not been previously described in parathyroid adenomas. A single large parathyroid adenoma was resected from an 8.5-yr-old Brazilian patient with no personal or family history of other endocrinopathies. Analysis of paired tumor-nontumor DNA using 23 microsatellite markers, located on chromosomes 1, 10, and 11 was carried out. microsatellite instability was detected in nine markers (D1S191, D1S212, D1S413, D1S2848, RET, D11S901, D11S903, INSR, and INT2), whereas no allelic loss was detected with any of the analyzed markers. Immunohistochemical analysis of retinoblastoma protein expression revealed low levels of expression, but no histopathological signs of malignancy. We conclude that in this single, apparently sporadic parathyroid adenoma, dna mismatch repair genes might be involved in parathyroid tumorigenesis.
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ranking = 52.962433729355
keywords = microsatellite, instability
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5/22. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.

    Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a very early age. The proband had a severe microsatellite instability (MIN) phenotype in both tumor and normal colon mucosa, and mutations in the TGFbeta-RII and APC genes in the colorectal tumor. We identified two germline mutations within the PMS2 gene: a G deletion (1221delG) in exon 11 and a four-base-pair deletion (2361delCTTC) in exon 14, both of which were inherited from the patient's unaffected parents. These results represent the first evidence that two germline frameshift mutations in PMS2, an MMR gene which is only rarely involved in HNPCC, are not pathogenic per se, but become so when occurring together in a compound heterozygote. The compound heterozygosity for two mutations in the PMS2 gene has implications for the role of protein PMS2 in the mismatch repair mechanism, as well as for the presymptomatic molecular diagnosis of at-risk family members. Furthermore, our data support and enlarge the notion that high DNA instability in normal tissues might trigger the development of cancer in this syndrome.
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ranking = 427.19786773649
keywords = microsatellite instability, microsatellite, instability
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6/22. genetic heterogeneity and alterations in chromosome 9 loci in a localized region of a functional pituitary adenoma.

    The molecular alterations reported in pituitary adenomas include mutations at the G(s)alpha in somatotrophinomas, and hypermethylation of the p16 tumor suppressor gene. There are, however, no reports of genomic instability or intratumor genetic heterogeneity in pituitary adenomas. We have studied the microsatellite loci on the short arm of chromosome 9 (9p) and the dna fingerprinting pattern, of adjacent compartments, about 2 mm across, in a functional chromophobe pituitary adenoma secreting growth hormone and prolactin. The microsatellite loci were studied by PCR amplification using locus specific primers, while the dna fingerprinting pattern was studied by randomly amplified polymorphic DNA (RAPD) analysis. Normal leukocyte DNA was taken as control. Only one compartment (Ta) showed alterations in several of the microsatellite loci and in the RAPD pattern vis a vis corresponding normal DNA and also the other two compartments of the tumor. This provides evidence for the localized nature of genomic instability in this tumor.
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ranking = 142.88730118806
keywords = microsatellite, instability
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7/22. Numerous colonic adenomas in an individual with Bloom's syndrome.

    Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. Individuals with BS manifest growth retardation, immunodeficiency, and a predisposition to cancer. In this report, we describe an individual with BS and multiple colonic adenomas reminiscent of familial adenomatous polyposis coli (FAP). Molecular studies revealed APC mutations in 4 of 6 adenomas, including 2 adenomas with the identical APC mutation and microsatellite instability in 1 of 6 adenomas. These results demonstrate similar pathways to colorectal neoplasia in BS as in the normal population and suggest that individuals with BS may be particularly susceptible to colorectal neoplasia.
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ranking = 426.19786773649
keywords = microsatellite instability, microsatellite, instability
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8/22. Synchronous serrated adenoma of the appendix and high-grade ovarian carcinoma: a case demonstrating different origin of the two neoplasms.

    association of mucinous adenomas of the appendix and mucinous ovarian tumors is well known. The origin of the ovarian tumor (metastasis from the appendix vs independent primary) is still debated. Serrated adenoma is a rare neoplasm of the distal gastrointestinal tract, and its precancerous role in the colorectum was recently postulated. A 74-year-old patient was subjected to hysterectomy with routine appendectomy due to a 17-cm tumor of her right ovary. Histological examination revealed a high-grade ovarian adenocarcinoma with peritoneal involvement. The appendix, grossly unremarkable, harbored a serrated adenoma with no evidence of invasion or malignant transformation. Immunohistochemical examination revealed CD7 , CK20-phenotype of the ovarian and reverse (CK7-, CK20 ) phenotype of the appendiceal tumor. Microsatellite analysis demonstrated microsatellite instability (MSI-high) within the serrated adenoma (4/5 markers with positive amplification) and no MSI (0/6 amplified markers) in the samples from the ovarian carcinoma, its metastases and the uninvolved uterine cervix. There were also differences in LOH pattern between the ovarian adenocarcinoma and the serrated adenoma. The findings suggest two independent primaries with profound differences in tumorigenetic pathways of both lesions. To the best of our knowledge this is the first report of synchronous serrated adenoma of the appendix and ovarian carcinoma.
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ranking = 426.19786773649
keywords = microsatellite instability, microsatellite, instability
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9/22. The characterization of somatic APC mutations in colonic adenomas and carcinomas in Ashkenazi jews with the APC I1307K variant using linkage disequilibrium.

    Mutations of the adenomatous polyposis coli (APC) gene play a critical role in the development of colorectal neoplasms. A novel mechanism involves a germline variant, at codon 1307 of the APC gene. The mutation is thought to create an unstable segment of DNA, which facilitates the development of somatic mutations. I1307K has been shown to be ancestral in Middle Eastern populations. The aim of the present study was to confirm this observation for a Western population and to utilize this information in the characterization of the somatic changes in colorectal neoplasia in carriers of I1307K. DNA from 182 US Ashkenazim was screened for the I1307K variant, which was found in 22 (12.1%), and the ancestral nature of this variant was confirmed in this population by showing that all of those with the I1307K variant carried a specific allele at the D5S346 locus, while the majority shared a D5S1385 allele. Subsequently, 79 neoplasms were analysed from 15 I1307K carriers for loss of heterozygosity (LOH) at the D5S346 locus. LOH was detected in 18 neoplasms (23%). Of these 18, four neoplasms showed loss of the I1307K-associated allele, while 14 neoplasms had retained the I1307K-associated allele and, by implication, the I1307K variant. PCR products were also cloned into a plasmid vector to isolate individual APC alleles. For those neoplasms with LOH, 13 of the 18 neoplasms (72%) had a somatic mutation, of which 12 involved the I307K-bearing chromosome. This study is consistent with two previous studies in showing that additional somatic mutations close to codon 1307 are almost always on the I1307K-bearing chromosome, but either allele may demonstrate LOH. Further evidence for the interpretation of the action of I1307K as producing DNA instability is provided by analysing multiple neoplasms from the same person and by showing that these neoplasms have differing patterns of LOH and associated somatic mutations.
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ranking = 1
keywords = instability
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10/22. Isolated familial somatotropinomas: clinical features and analysis of the MEN1 gene.

    Isolated familial somatotropinomas (IFS) rarely occurs in the absence of multiple endocrine neoplasia type I (MEN1) or the carney complex. In the present study we report two Italian siblings affected by GH-secreting adenomas. There was no history of parental consanguinity. The sister presented at 18 years of age with secondary amenorrhea and acromegalic features and one of her two brothers presented with gigantism at the same age. Endocrinological investigations confirmed GH hypersecretion in both cases. Although a pituitary microadenoma was detected in both patients, transsphenoidal surgery was not successful. The sister received conventional radiotherapy and acromegaly is now considered controlled; the brother is being treated with octreotide LAR 30 mg monthly and the disease is considered clinically active. patients, their parents and the unaffected brother underwent extensive evaluation, and no features of MEN1 or carney complex were found. Analysis of polymorphic microsatellite markers from chromosome 11q13 (D11S599, D11S4945, D11S4939, D11S4938 and D11S987) showed that the acromegalic siblings had inherited different maternal chromosomes and shared the paternal chromosome. No pathogenic MEN1 sequence changes were detected by sequencing or dideoxy fingerprinting of the coding sequence (exons 2-10) and exon/intron junctions. Although mutations in the promoter, introns or untranslated regions of the MEN1 gene cannot be excluded, germline mutations within the coding region of this gene do not appear responsible for IFS in this family.
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ranking = 46.962433729355
keywords = microsatellite
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