Cases reported "Genomic Instability"

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1/3. Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report.

    A 49-year-old man presented with a brain tumor and colon carcinoma. The patient had been treated under diagnoses of hereditary non-polyposis colorectal cancer syndrome and muir-torre syndrome. magnetic resonance imaging revealed a mass lesion in the right frontal lobe with diffuse high intensity on T2-weighted and fluid-attenuated inversion recovery images. A few small lesions were enhanced by gadolinium on the T1-weighted images. Histological examination revealed the brain neoplasm was astrocytoma grade III according to the world health organization classification. Molecular genetic analysis detected microsatellite instability and p53 mutation only in the tumor tissue, indicating a failure of the deoxyribonucleic acid mismatch repair system. These results suggest that inactivation of mismatch repair system and p53 is closely associated with the tumorigenesis of this neoplasm. The final diagnosis was Turcot syndrome type 1.
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ranking = 1
keywords = colorectal cancer, colorectal, cancer, neoplasm
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2/3. Small bowel adenocarcinoma with high levels of microsatellite instability in Crohn's disease.

    microsatellite instability (MSI) is a hallmark of carcinomas occurring in the setting of hereditary nonpolyposis colorectal cancer, but can also be found in sporadic and colitis-associated tumors. The incidence of MSI in Crohn's disease is unknown and has usually been reported in the colon. We report the case of a 26-year-old man, diagnosed 4 years earlier with Crohn's disease, who developed an associated small bowel adenocarcinoma. The tumor was found to have high levels of MSI by immunohistochemical staining and by MSI testing. No mutations were identified by genetic testing, and high levels of MSI are most probably due to hypermethylation.
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ranking = 805.17656097118
keywords = hereditary nonpolyposis colorectal, hereditary nonpolyposis, hereditary nonpolyposis colorectal cancer, nonpolyposis colorectal, nonpolyposis colorectal cancer, nonpolyposis, colorectal cancer, colorectal, cancer
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3/3. A novel MLH1 mutation harbored as a germ line aberration by a young woman of an HNPCC-like family and exhibited by a CML patient when occurring prior to the initiation of the blast phase concomitant with a c-MYC amplification.

    Germ line mutations in the MLH1 and MSH2 genes account for the majority of hereditary nonpolyposis colorectal cancer (HNPCC) families. Here, we describe a family that does not meet the international criteria for HNPCC, of which a young woman harbors a missense mutation (D132H). This novel germ line mutation has not previously been reported. Of the mismatch repair (MMR) genes, MLH1 has been shown to play an important role in hematologic malignancies. The novel mutation was also revealed to be a somatic aberration occurring prior to the initiation of the blast phase in a chronic myelogenous leukemia (CML) patient. Among the possible MLH1 partners involved in signaling MMR or apoptosis is the proto-oncogene c-MYC, which is closely related to cellular proliferation. We further revealed a concomitant c-MYC dramatic amplification in the CML-MLH1-mutation carrier patient, also occurring at the pre-blast phase. Our data contribute further to characterizing the mutational spectrum of the MLH1 gene. Furthermore, given the role of c-MYC and its interaction with MLH1, taken together with the mutational status of both genes revealed at the pre-blast phase in the CML patient, a plausible increased genetic instability might be expected to take place, possibly contributing to blast triggering. Our results may provide additional insight into the complex interplay between the MMR system and other cellular pathways.
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ranking = 805.17656097118
keywords = hereditary nonpolyposis colorectal, hereditary nonpolyposis, hereditary nonpolyposis colorectal cancer, nonpolyposis colorectal, nonpolyposis colorectal cancer, nonpolyposis, colorectal cancer, colorectal, cancer
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