Dataset Information

Dupuytren's disease and the risk of malignant neoplasms.

ABSTRACT: The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren's disease (DD) and in 2157 of their 1st degree relatives. In the first stage of the study, we evaluated the tumour spectrum as well as the age of the patient at diagnosis of cancers in DD families along with the observed and expected frequencies of malignancies. In the second stage of the study, we examined the distribution of 20 common mutations/polymorphisms in 12 known cancer susceptibility genes among DD patients and 508 matched healthy controls. No such study has been published to date. Results. No significant differences were noted between malignancies diagnosed among members of DD families and the general population. Molecular examination of 20 mutations/polymorphisms in 12 cancer susceptibility genes in Dupuytren's patients and controls showed a statistically significant association of one mutation with Dupuytren disease: D312M in XPD (OR?=?1.75, p?=?0.004). We observed a tendency toward changed frequencies of occurrence of central nervous system tumors, laryngeal cancer and non-melanoma skin cancers in DD families. The results of our study indicate a lack of a strong association between Dupuytren disease and familial cancer risk.

SUBMITTER: Zyluk A

PROVIDER: S-EPMC3973858 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Dupuytren's disease and the risk of malignant neoplasms.

Zyluk Andrzej A Paszkowska-Szczur Katarzyna K Gupta Satish S Scott Rodney J RJ Lubiński Jan J Dębniak Tadeusz T

Hereditary cancer in clinical practice 20140306 1

The object of this study was the investigation of the risk of occurrence of malignant neoplasms in 508 patients with Dupuytren's disease (DD) and in 2157 of their 1st degree relatives. In the first stage of the study, we evaluated the tumour spectrum as well as the age of the patient at diagnosis of cancers in DD families along with the observed and expected frequencies of malignancies. In the second stage of the study, we examined the distribution of 20 common mutations/polymorphisms in 12 know ...[more]

PMID: 24598251

Similar Datasets

Project description:An indirect consequence of the improved long-term survival seen in patients with breast cancer (BC) is the increased risk of hematologic malignant neoplasms (HM). This study aimed to analyze the role of postoperative treatment for BC in the development of subsequent HM. Using the French National Health Data System, we examined the HM risks in patients diagnosed with an incident primary breast cancer between 2007 and 2015, who underwent surgery as first-line treatment for BC. Main outcomes were acute myeloid leukemia (AML), Myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPNs), multiple myeloma (MM), Hodgkin's lymphoma or non-Hodgkin's lymphoma (HL/NHL), and acute lymphoblastic leukemia or lymphocytic lymphoma (ALL/LL). Analyses were censored at HM occurrence, death, loss to follow up, or December 2017. The risk of each type of HM was compared according to the initial postoperative treatment of breast cancer. Of a total of 324,056 BC survivors, 15.5% underwent surgery only, 46.7% received radiotherapy after surgery, 4.3% received chemotherapy after surgery, and 33.5% received all three modalities. Overall, 2236 cases of hematologic malignancies occurred. Compared to the surgery alone group, AML was significantly increased after surgery plus radiation (aHR, 1.5; 95% CI, 1.0-2.1), surgery plus chemotherapy (aHR, 2.1; 95% CI, 1.2-3.6) and all modalities (aHR, 3.3; 95% CI, 2.3-4.7). MDS was significantly increased after surgery plus chemotherapy (aHR, 1.7; 95% CI, 1.1-2.5) or after all modalities (aHR, 1.4; 95% CI, 1.1-1.8). HL/NHL were significantly increased only in the radiotherapy and surgery group (aHR, 1.3; 95% CI, 1.0-1.6). A nonsignificant increase of ALL/LL (aHR, 1.8; 95% CI, 0.6-3.5) was noted after chemotherapy and with all three modalities (aHR, 1.4; 95% CI, 0.7-2.8). Our population based study revealed increased risks of various HM associated with postoperative BC treatment. The added benefit of chemotherapy and radiation therapy should take into consideration these long-term complications.

Project description:BackgroundThe correlation between smoking and alcohol consumption and the development of Dupuytren's disease (DD) has been acknowledged. However, the definitive causal relationship between these two factors and DD remains elusive. In order to establish a causal connection, we employed the two-sample Mendelian randomization method to evaluate the relationship between smoking and alcohol consumption and DD.MethodsBased on publicly available genome-wide association studies (GWAS), two-sample univariate MR analyses were performed to assess the causal effects of drinks per week, cigarettes per day, smoking initiation, age of initiation, and smoking cessation on DD. We used inverse variance weighted (IVW) to generate the primary results for the MR analysis. Furthermore, we performed sensitivity MR analyses based on various methods to assess the robustness of estimations. Bidirectional MR analyses were used to study the interaction between smoking and alcohol consumption. Multivariate MR analyses were used to obtain independent causal effects of smoking or drinking on DD.ResultsOur two-sample MR, which was predominately based on IVW, revealed a causal relationship between drinks per week and DD (OR = 2.948, 95%CI: 1.746-4.975, P = 5.16E-05). In addition, there is no causal association between cigarettes per day, smoking initiation, age of initiation, smoking cessation and DD. Similar conclusions were reached by other MR methods. The results of the bidirectional MR analyses showed that the causal relationships between age of initiation and drinks per week were robust and significant. Multivariate MR results indicated that the causal effect of alcohol consumption on DD was independent of smoking.ConclusionOur Mendelian Randomization study indicated that there is a causality between drinking alcohol and DD, but no such causality was found between smoking and DD. This is the first study to prove that drinking alcohol could cause DD. This could help people who are trying to prevent DD from happening in the first place.

Project description:Importance:The cancer disease label may lead to overtreatment of low-risk malignant neoplasms owing to a patient's emotional response or misunderstanding of prognosis. Decision making should be driven by risks and benefits of treatment and prognosis rather than disease label. Objective:To determine whether disease label plays a role in patient decision making in the setting of low-risk malignant neoplasms and to determine how the magnitude of the disease-label effect compares with preferences for treatment and prognosis. Design, Setting, and Participants:A discrete choice experiment conducted using an online survey of 1314 US residents in which participants indicated their preferences between a series of 2 hypothetical vignettes describing the incidental discovery of a small thyroid lesion. Vignettes varied on 3 attributes: disease label (cancer, tumor, or nodule); treatment (active surveillance or hemithyroidectomy); and risk of progression or recurrence (0%, 1%, 2%, or 5%). The independent associations of each attribute with likelihood of vignette selection was estimated with a Bayesian mixed logit model. Main Outcomes and Measures:The preference weight of the cancer disease label was compared with preference weights for other attributes. Results:In 1068 predominantly healthy respondents (605 women and 463 men) with a median age of 35 years (range, 18-78 years), the cancer disease label played a considerable role in respondent decision making independent of treatment offered and risk of progression or recurrence. Participants accepted a 4-percentage-point increase in risk of progression or recurrence (from 1% to 5%) to avoid labeling their disease as cancer in favor of nodule (marginal rate of substitution [MRS], 1.0; 95% credible interval [CrI], 0.9-1.1). Preference for the nodule label instead of cancer was similar in magnitude to the preference for active surveillance over surgery (MRS, 1.0; 95% CrI, 0.9-1.1). Conclusions and Relevance:Disease label plays a role in patient preference independent of treatment risks or prognosis. Raising the threshold for biopsy or removing the word cancer from the disease label may mitigate patient preference for aggressive treatment of low-risk lesions. Health care professionals should emphasize treatment risks and benefits and natural disease history when supporting treatment decisions for potentially innocuous epithelial malignant neoplasms.

Project description:PURPOSE: Dupuytren's disease (DD) is characterized by fibroblastic proliferation of the palmar fascia, often leading to flexion contracture in the hand. Although there is a strong genetic component the genome-wide expression of novel genes is not known. The purpose of this study was to use DNA microarray technology to identify upregulated genes in DD. METHODS: Human tissue samples were harvested from 3 patient sources: DD cord tissue (n = 20), normal-appearing adjacent control fascia (n = 15), and palmar fascia from patients having carpal tunnel release (n = 15). DNA microarray analysis was performed on amplified sample RNA. Novel genes were compared with known gene functions. A candidate gene of interest was studied further by using immunohistochemistry on DD tissue samples and controls. : Several novel genes not described previously in the study of DD were upregulated significantly, including MafB, collagen type V, alpha-2 (COL5A2), collagen type VIII, alpha-1 (COL8A1), contactin I (CNTN1), and leucine-rich repeat containing 17 (LRRC17). These upregulated genes were compared with their known gene-expression profiles in other tissues and their purported functions. MafB was found to be of particular interest because of its prominent role in tissue development and cellular differentiation. MafB immunohistochemistry showed positive staining in 50% of the DD specimens but complete absence of MafB in all control tissues (adjacent control fascia, carpal tunnel fascia). Co-localization experiments with MafB and alpha-smooth muscle actin showed staining properties in similar regions but these 2 proteins were not confined solely to the same cells. CONCLUSIONS: Microarray analysis of DD tissue has identified significant upregulated gene expression of MafB. MafB protein also is found in Dupuytren's cords but not in control fascia. Co-localization data suggest that the association of MafB with DD is not related exclusively to myofibroblast proliferation. Because of its role in fibroblastic transformation in other models MafB and its relationship to the pathogenesis of DD deserves further study. Set of arrays organized by shared biological context, such as organism, tumors types, processes, etc. Keywords: Logical Set

Dataset Information

Dupuytren's disease and the risk of malignant neoplasms.

Publications

Dupuytren's disease and the risk of malignant neoplasms.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets