Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Squamous cell laryngeal carcinoma accounts for 1% of all cancer deaths and 95% of all laryngeal malignancies. It is most frequently found in smokers over 40 years of age. This neoplasm is presently the object of cytogenetic studies in an attempt to identify a specific chromosome pattern. In a study of 29 cases of malignant primary laryngeal tumor, Nawroz (1993) found a loss of alleles in different loci mapped in the short arm of chromosome 9 (9p) in more than two-thirds of the cases. In the same chromosome region, the loss of heterozygotes (LOH) was previously described in other neoplasms (leukemia, hematic tumors, melanomas). In an attempt to verify the predominant chromosome pattern and the loss of heterozygotes in chromosome 9, a cytogenetic, genetic-molecular study was performed on ten cases of laryngeal carcinoma. Among these subjects, two showed a hyperdiploid chromosome pattern (metaphase with more than 46 chromosomes per cell), five had a hypodiploid pattern (with less than 46 chromosomes per cell) while, for the remaining three cases, it was not possible to identify any metaphase. Numerous structural and numerical karyotype defects were found in chromosomes 1, 3, 4, 5, 9, 10, 13, 14, 16, 18, and Y. In 6 of the cases abnormality was found in chromosome 9 while in 10 it was apparently a homozygote. The study was performed with the use of fluorescent in situ hybridization (FISH) using a chromosome library specific for chromosome 9. A loss of the 9p segment could be found as a result of different types of alterations: deletion (case 1, 2, 5, 7); non uniform transfer between chromosome 2 and chromosome 9 (case 2); other transfers involving the 9p segment (case 1, 4, 5, 7, 10). In six cases, analysis was further detailed at the molecular level by means of DNA amplification methods (PCR) and electrophoresis on denatured 10% polyacrylammide gels. LOH was studied using a polymorphic system specific for the short arm of chromosome 9. Four of the cases examined showed LOH for the system used while one case (case 4) gave no information. Case 9 did not show any loss of alleles. The present study suggests that the loss of a DNA sequence on chromosome 9p is primary to the neoplastic progression in laryngeal cancer.
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PMID:[Genetics of laryngeal cancer: an experimental study]. 954 21

Environmental carcinogens contained in air pollution, such as polycyclic aromatic hydrocarbons, aromatic amines or N-nitroso compounds, predominantly form DNA adducts but can also generate interstrand cross-links and reactive oxygen species. If unrepaired, such lesions increase the risk of somatic mutations and cancer. Our study investigated the relationships between 22 polymorphisms (and their haplotypes) in 16 DNA repair genes belonging to different repair pathways in 1094 controls and 567 cancer cases (bladder cancer, 131; lung cancer, 134; oral-pharyngeal cancer, 41; laryngeal cancer, 47; leukaemia, 179; death from emphysema and chronic obstructive pulmonary disease, 84). The design was a case-control study nested within a prospective investigation. Among the many comparisons, few polymorphisms were associated with the diseases at the univariate analysis: XRCC1-399 Gln/Gln variant homozygotes [odds ratios (OR) = 2.20, 95% confidence intervals (CI) = 1.16-4.17] and XRCC3-241 Met/Met homozygotes (OR = 0.51, 95% CI = 0.27-0.96) and leukaemia. The recessive model in the stepwise multivariate analysis revealed a possible protective effect of XRCC1-399Gln/Gln in lung cancer (OR = 0.22, 95% CI = 0.05-0.98), and confirmed an opposite effect (OR = 2.47, 95% CI = 1.02-6.02) in the leukaemia group. Our results also suggest that the XPD/ERCC1-GAT haplotype may modulate leukaemia (OR = 1.28, 95% CI = 1.02-1.61), bladder cancer (OR = 1.38, 95% CI = 1.06-1.79) and possibly other cancer risks. Further investigations of the combined effects of polymorphisms within these DNA repair genes, smoking and other risk factors may help to clarify the influence of genetic variation in the carcinogenic process.
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PMID:DNA repair polymorphisms and cancer risk in non-smokers in a cohort study. 1630 13

Judging from recent data, heritable forms account for 30-40% of pheochromocytomas. The molecular basis for the familial pheochromocytoma has been largely elucidated and the role of germline mutation of the VHL, RET, SDHB, and SDHD genes has been established. However, on genotyping a group of 172 sporadic or familial pheochromocytomas, we characterized four unrelated probands with familial pheochromocytomas without any sequence variants of RET (exons 8, 10, 11, 13, 14, 15, and 16) or the entire coding sequence of VHL, SDHB, SDHC, SDHD, and EGLN3 (exon-intron boundaries included). The proband of family 1 is a man who had a bilateral pheochromocytoma at the age of 32 and a local recurrence at the age of 48 years. His brother died of malignant pheochromocytoma and his nephew died suddenly of an undiagnosed pheochromocytoma. The proband of family 2 is a female who had a 5-cm benign adrenal pheochromocytoma at the age of 34 years, while her cousin (maternal branch) had a monolateral pheochromocytoma at the age of 42 years. No other tumors had been reported in either family. The proband of family 3 is a female who had a bilateral pheochromocytoma at the age of 66 years. Her sister had a bilateral pheochromocytoma and breast cancer at the age of 54 years. Several other tumors were recorded in this family, including laryngeal cancer, leukemia, and a case of medullary thyroid carcinoma (MTC) in one brother. MTC was naturally ruled out in the proband and her sister. In family 4, the proband was a female who had a bilateral pheochromocytoma at the age of 46 years and a local recurrence a few years later, with liver metastases from the pheochromocytoma. Her brother had a monolateral benign pheochromocytoma. The proband also had a melanoma and bilateral renal cysts. This case revealed a VHL sequence variant IVS2+43 A>G, which was also found in one other unrelated sporadic pheochromocytoma. VHL mRNA integrity is currently being evaluated. The proband had no cerebellar or spinal NMR findings or retinal alterations. In family 5, the proband was a female who had a right adrenal pheochromocytoma at the age of 50 years and a breast cancer at 49 years of age. Her mother had had a right adrenal pheochromocytoma at 61 years of age. Although other molecular mechanisms, such as particular variants in untranslated regions or partial gene deletions, cannot be ruled out, we think finding families with nonsyndromic pheochromocytoma without any RET, VHL, SDHB, SDHC, SDHD, or EGLN3 mutation may argue in favor of the presence of other pheochromocytoma susceptibility genes.
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PMID:Familial nonsyndromic pheochromocytoma. 1710 81

We conducted a nationwide record-linked study using all English NHS hospital admission data and mortality statistics from 1999 to 2011 to evaluate the risk of concurrent or subsequent bullous pemphigoid (BP) in a cohort of 2,873,720 individuals with malignant cancers, when compared with a reference cohort. We calculated standardised rate ratios (RRs) based on person-years at risk, comparing the observed and expected numbers of BP cases in the cancer cohort with those in the reference cohort. Overall, the cohort of people with a record of a malignant cancer was not found to be at greater risk of concurrent or subsequent BP than the cohort of people without a record of a malignant cancer (RR 0.96, 95 % CI 0.88-1.04), although elevated risks of BP were found in sub-cohorts of people with either kidney cancer, laryngeal cancer or lymphoid leukaemia. We also similarly analysed the risk of concurrent and subsequent malignant cancers in a cohort of people with a principal diagnosis of BP, and again found no increased risk as compared with the reference cohort (RR 1.00, 95 % CI 0.92-1.09).
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PMID:Associations between bullous pemphigoid and primary malignant cancers: an English national record linkage study, 1999-2011. 2391 80

Diagnostics and therapies have shown evident advances. Tumour surgery, chemotherapy and radiotherapy are the main techniques in treat cancers. Targeted therapy and drug resistance are the main focus in cancer research, but many molecular intracellular mechanisms remain unknown. Src homology region 2-containing protein tyrosine phosphatase 2 (Shp2) is associated with breast cancer, leukaemia, lung cancer, liver cancer, gastric cancer, laryngeal cancer, oral cancer and other cancer types. Signalling pathways involving Shp2 have also been discovered. Shp2 is related to many diseases. Mutations in the ptpn11 gene cause Noonan syndrome, LEOPARD syndrome and childhood leukaemia. Shp2 is also involved in several cancer-related processes, including cancer cell invasion and metastasis, apoptosis, DNA damage, cell proliferation, cell cycle and drug resistance. Based on the structure and function of Shp2, scientists have investigated specific mechanisms involved in cancer. Shp2 may be a potential therapeutic target because this phosphatase is implicated in many aspects. Furthermore, Shp2 inhibitors have been used in experiments to develop treatment strategies. However, conflicting results related to Shp2 functions have been presented in the literature, and such results should be resolved in future studies.
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PMID:Functions of Shp2 in cancer. 2608

In various cancers, high-grade tumor and poor survival rate in patients with upregulated lncRNAs UCA1 have been confirmed. Urothelial carcinoma associated 1 (UCA1) is an oncogenic non-coding RNA with a length of more than 200 nucleotides. The UCA1 regulate critical biological processes that are involved in cancer progression, including cancer cell growth, invasion, migration, metastasis, and angiogenesis. So It should not surprise that UCA1 overexpresses in variety of cancers type, including pancreatic cancer, ovarian cancer, gastric cancer, colorectal cancer, breast cancer, prostate cancer, endometrial cancer, cervical cancer, bladder cancer, adrenal cancer, hypopharyngeal cancer, oral cancer, gallbladder cancer, nasopharyngeal cancer, laryngeal cancer, osteosarcoma, esophageal squamous cell carcinoma, renal cell carcinoma, cholangiocarcinoma, leukemia, glioma, thyroid cancer, medulloblastoma, hepatocellular carcinoma and multiple myeloma. In this article, we review biological function and regulatory mechanism of UCA1in several cancers and also, we will discuss the potential of its as cancer biomarker and cancer treatment.
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PMID:The Functional Role of Long Non-coding RNA UCA1 in Human Multiple Cancers: a Review Study. 3256 Jun 5


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