We have characterized the role of genetic alterations in the development of liver fluke related cholangiocarcinoma. We analyzed the loss of heterozygosity (LOH) and microsatellite instability (MSI) of hMSH2, hMLH1, and p53 genes in 55 patients with intrahepatic cholangiocarcinoma by using polymerase chain reaction based microsatellite markers D2S119, D3S1611, and TP53, respectively and determined the association between microsatellite alterations and patient survival. A total of 27 (49.1%) out of 55 cases exhibited microsatellite alterations in one locus or more. Of 55 samples, 11 (20%) demonstrated MSI at D2S119 and four (7%) showed MSI at D3S1611. LOH was shown in seven out of 36 (19%) informative cases for D3S1611 and 16 out of 50 (32%) for TP53. Microsatellite alterations at loci studied were significantly associated with poor survival (P=0.0098). This study suggests that genetic alterations of DNA mismatch repair genes and tumor suppressor gene p53 may be involved in cholangiocarcinogenesis and these alterations may be of value as prognostic indicators for liver fluke related cholangiocarcinoma.
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http://dx.doi.org/10.1016/s0304-3835(02)00052-6 | DOI Listing |
Cancers (Basel)
January 2025
SAMRC Precision Oncology Research Unit (PORU), DSI/NRF SARChI Chair in Precision Oncology and Cancer Prevention (POCP), Pan African Research Institute (PACRI), University of Pretoria, Hartfield, Pretoria 0028, South Africa.
Endometrial cancer (EC), a prevalent gynecological malignancy, presents significant challenges due to its genetic complexity and heterogeneity. The genomic landscape of EC is underpinned by genetic alterations, such as mutations in PTEN, PIK3CA, and ARID1A, and chromosomal abnormalities. The identification of molecular subtypes-POLE ultramutated, microsatellite instability (MSI), copy number low, and copy number high-illustrates the diverse genetic profiles within EC and underscores the need for subtype-specific therapeutic strategies.
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January 2025
Medical Oncology Division, Humanitas Gavazzeni, 24125 Bergamo, Italy.
Background: thymic basaloid carcinoma (BTC) is an extremely rare tumor, and very little data are available on BTC's biology, clinical behavior, drug sensitivity, and patient outcomes.
Methods: We performed a retrospective observational study on patients diagnosed with BTC in 11 referral centers of TYME. All BTC diagnoses were reviewed by the referring pathologist.
Genes Genomics
January 2025
Department of Smart Farm and Agricultural Industry, Kangwon National University, Chuncheon, 24341, Republic of Korea.
Background: Next-generation sequencing has revolutionized genome science over the last two decades. Indeed, the wealth of sequence information on our genome has deepened our understanding on cancer. Cancer is a genetic disease caused by genetic or epigenetic alternations that affect the expression of genes that control cell functions, particularly cell growth and division.
View Article and Find Full Text PDFSci Rep
January 2025
Institute of Dendrology, Polish Academy of Sciences, Parkowa 5, Kórnik, 62-035, Poland.
Genetic diversity is crucial to secure the survival and sustainability of ecosystems. Given anthropogenic pressure, as well as the projected alterations connected with the level and circulation of water, riparian forests are of particular concern. In this paper, we assessed the genetic variation of black poplar - one of the keystone tree species of riverine forests.
View Article and Find Full Text PDFOncol Rev
January 2025
Hematology and Bone Marrow Transplant, Fortis Memorial Research Institute, Gurgaon, Haryana, India.
Non-small-cell lung cancer (NSCLC) is the poster child of personalized medicine. With increased knowledge about biomarkers and the consequent improvement in survival rates, NSCLC has changed from being a therapeutic nihilistic disease to that characterized by therapeutic enthusiasm. The routine biomarkers tested in NSCLC are EGFR, ALK, and ROS1.
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