Cases reported "Neoplasms, Second Primary"

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1/19. CD5 positive breast carcinoma in a patient with untreated chronic lymphocytic leukaemia: molecular studies of chromosome 13q.

    A 67 year old woman presented with a right breast lump which proved to be a grade 2 invasive ductal carcinoma with axillary lymph node metastasis. She had a five year history of CD5 positive chronic lymphocytic leukaemia, which never required treatment. Immunoperoxidase stains for CD5, using the monoclonal antibody NCL-CD-54C7, showed that there was extensive infiltration of axillary lymph nodes with CD5 positive B lymphocytes. Strong staining for CD5 was also seen in the carcinoma cells within the breast and lymph node metastases. It has recently been suggested that there is a tumour suppresser locus in chronic lymphocytic leukaemia at 13q12.3 near or at the BRCA2 locus. Deletion of regions on chromosome 13q containing the BRCA2 and RB1 genes has also been reported in sporadic breast cancers. These observations suggest that there may be a link between these two diseases acting through chromosome 13, but amplification of several microsatellite repeat markers failed to show any loss of heterozygosity or repeat instability at either these or several other loci on chromosome 13. Examination of additional such cases is needed to perform a more comprehensive study of the significance of positive CD5 staining of breast carcinoma.
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ranking = 1
keywords = microsatellite, instability
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2/19. Chromosome instability in lymphocytes from two patients affected by three sequential primary cancers: the role of fragile sites.

    The chromosomal aberration rate and the expression of fragile sites induced by aphidicolin were evaluated in metaphase chromosomes obtained from peripheral blood lymphocytes of two untreated patients with multiple primary cancers. Spontaneous aberrations of chromosome number and structure and chromosome fragility were compared with controls with the use of the same methods. Chromosomal aberration rates and expression frequencies of fragile sites were significantly higher in the patients than in normal control subjects. In the patients, all but one structural chromosome aberration involved at least one fragile site. Our results suggest that fragile sites may be unstable regions of the human genome, which might play an important role in the genetic instability associated with cancer predisposition.
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ranking = 0.092040192409006
keywords = instability
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3/19. Cytogenetic and molecular characterization of T-cell acute lymphoblastic leukemia as a second tumor after anaplastic large-cell lymphoma in a boy.

    We report a case of acute T-cell lymphoblastic leukemia which developed in a boy 8.5 years after successful treatment for anaplastic large-cell lymphoma. Cytogenetic and molecular characterizations of the second tumor were performed. The cytogenetic investigation revealed a complex pattern of karyotypic alterations, including double minutes, ring chromosomes, and a duplication of the p21-32 region of chromosome 1. The microsatellite dna analysis excluded rearrangement or deletion of the TAL1 gene in the tumor cells; rearrangements of the MLL gene were excluded by Southern blot analysis. To the best of our knowledge, this is the first report of T-cell lymphoblastic leukemia arising after treatment of CD 30 anaplastic large-cell lymphoma. The different T-cell receptor rearrangement evidenced in the two tumors indicates that this second malignancy most likely emerged de novo, but was plausibly related to the previous radiation and chemotherapy.
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ranking = 0.9815919615182
keywords = microsatellite
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4/19. Local tumor recurrence or emergence of a new primary lesion? A molecular analysis.

    The distinction between a new primary oral tumor and recurrence may bear significant prognostic implications. Currently, this differentiation relies mainly on tumor location: when both lesions are at or near the same site, the new one is regarded as a recurrence; when the two are at different sites, the second lesion is regarded as a new primary. Recent investigations using molecular analysis have demonstrated that some oral squamous cell carcinomas (SCC) arising from different sites show the same clonogenical changes. In this case report, we studied the clonality of three SCC (one primary, two apparent recurrences) from the right lateral tongue of a young, non-smoking woman by using microsatellite analysis for loss of heterozygosity. The results showed that while the first two tumors were clonogenically similar, the third tumor was clonogenically different and was consistent with the development of a new primary. This result indicates that location of tumors alone is not always reliable in determining whether a new tumor is a recurrence or a new primary lesion.
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ranking = 0.9815919615182
keywords = microsatellite
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5/19. 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 = 5.8895517691092
keywords = microsatellite
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6/19. Adrenocortical adenocarcinoma in an MSH2 carrier: coincidence or causal relation?

    A woman is described who developed an ovarian adenocarcinoma, 3 metachronous colorectal adenocarcinomas, and a primary adrenocortical adenocarcinoma. Genetic investigation of the mismatch repair genes MLH1 and MSH2 showed a germline mutation in MSH2. Colorectal and ovarian carcinoma belong to the tumor spectrum of hereditary nonpolyposis colorectal cancer (HNPCC). Adrenocortical adenocarcinoma, however, has never been described as 1 of the HNPCC-associated tumors. To investigate whether the adrenocortical adenocarcinoma in this patient was caused by the MSH2 germline mutation, determination of microsatellite instability (MSI) and immunohistochemical analysis were performed on 1 of the colorectal tumors and the adrenocortical adenocarcinoma. MSI and general loss of MSH2 protein expression could be seen in the colorectal tumor but not in the adrenocortical adenocarcinoma. Therefore, it is highly unlikely that the adrenocortical adenocarcinoma found in this patient was due to her genetic predisposition for HNPCC. HUM PATHOL 31:1522-1527.
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ranking = 10.200456330743
keywords = microsatellite instability, microsatellite, instability
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7/19. Invasive papillary adenocarcinoma of the colon.

    Colonic adenocarcinomas are among the most common type of tumors. In this report, we present the morphologic, immunohistochemical, and microsatellite findings of 2 cases with a distinct invasive papillary component. Both tumors arose from polyps in middle-aged patients, followed an aggressive course, and showed a superficial adenomatous component. The immunohistochemical stains showed that the tumor cells were negative for p27 and p53; both tumors were microsatellite stable, that is, with no microsatellite instability in the 6 markers studied, and there was no loss of the mismatch repair proteins hMSH2 or hMLH1. These findings suggest that these tumors follow the tumor-suppressor pathway and represent an aggressive subtype of colonic adenocarcinoma.
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ranking = 12.163640253779
keywords = microsatellite instability, microsatellite, instability
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8/19. 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 = 10.200456330743
keywords = microsatellite instability, microsatellite, instability
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9/19. Metachronous bilateral mammary metaplastic and infiltrating duct carcinomas: a molecular study for clonality.

    Mammary metaplastic carcinoma is uncommon. In this study, both carcinoma and sarcoma components of a metaplastic carcinoma and a subsequent metachronous contralateral infiltrating ductal carcinoma were analyzed by microsatellite analysis for the loss of heterozygosity (LOH) patterns at multiple sites on chromosome arms 3p, 6q, 8, 9p, 11, 13q, 14q, 16q, and 17p. The LOH patterns between the carcinoma and sarcoma components in the first tumor were similar, indicating clonality. The LOH patterns between the first and second tumors were different at all chromosome arms, indicating different clonality and a second primary. We demonstrated a second primary carcinoma in a patient with previous metaplastic carcinoma rather than a metastasis with carcinoma component only.
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ranking = 0.9815919615182
keywords = microsatellite
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10/19. An early stage small bowel adenocarcinoma with microsatellite instability phenotype in a case of hereditary nonpolyposis colorectal cancer.

    BACKGROUND: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited disease characterized by onset at a relatively early age, excess of synchronous and metachronous tumors, and a variety of extracolorectal malignancies. Small bowel carcinoma is included in the tumor spectrum of HNPCC, but the frequency of occurrence of this tumor in HNPCC patients is comparatively rare. CASE PRESENTATION: We report the case of a 55-year-old woman who had a history of multiple colon cancers at 33 years of age, sigmoid colon cancer at 47, and endometrial carcinoma at 51. This case fulfills the Amsterdam criteria for HNPCC and followed from the patient's age of 47 at our institute. Surveillance colonoscopy showed a sessile polyp in the ileum that was 9 mm in diameter and located about 10 cm proximal to the ileorectal anastomosis, and that was resected by endoscopic mucosal resection. Histopathological studies showed an adenoma with well-differentiated adenocarcinoma in the mucosa. A molecular analysis of the adenoma component of this polyp was performed, and microsatellite instability was found in four of the nine analyzed loci. The patient was a mutation carrier in hMSH2, one of the mismatch repair genes responsible for HNPCC. CONCLUSION: Reports of early-stage carcinoma of the small bowel in HNPCC are very rare, and an adenoma-carcinoma sequence was present in the small bowel tumor of this patient. The molecular findings of this tumor are discussed.
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ranking = 51.002281653713
keywords = microsatellite instability, microsatellite, instability
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