Cytogenetic and interphase cytogenetic analyses reveal chromosome instability but no clonal trisomy 8 in dupuytren contracture

Casalone, Rosario; Mazzola, D.; Meroni, Emanuele; Righi, R.; Minelli, E.; Granata, Paola; Panattoni, Alessandra; Viotto, A. M.; Modesti, Mauro; Pilato, Giovanni

doi:10.1016/s0165-4608(96)00430-x

Cited by 21 publications

(8 citation statements)

References 6 publications

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“…However, only 1 locus has been reported (OMIM no. 126900), and studies of acquired chromosomal abnormalities in contracture nodules did not reveal evidence of a clustering breakpoint of likely etiologic relevance (20). Among carriers developing Dupuytren's contracture in our cohort, we found 2 related female carriers, both with an inv(5)(p13q15), and 2 unrelated carriers with a breakpoint involving 11q25.…”

Section: Discussioncontrasting

confidence: 44%

Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

Bache¹,

Nielsen²,

Rostgaard³

et al. 2007

Arthritis & Rheumatism

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Objective. Constitutional structural chromosomal rearrangements (CSCRs) have facilitated the identification of genes associated with early-onset monogenic disorders and, more recently, genes associated with common and late-onset disorders. In an attempt to find genetic clues to their etiologies, we studied the risk of autoimmune diseases in a Danish cohort of CSCR carriers.Methods. We followed up 4,866 CSCR carriers over 71,230 person-years (1980 through 2004) for autoimmune diseases recorded in the Danish Hospital Discharge Register. Standardized incidence ratios (SIRs) and 95% confidence intervals (95% CIs) served as measures of the relative risk. To identify possible candidate loci for autoimmune diseases, the reported chromosomal breakpoints and deletions in CSCR carriers who developed autoimmune diseases were compared with previously suggested loci for these diseases.Results. The overall risk of any autoimmune disease among CSCR carriers was inconspicuous (SIR 1.2 [95% CI 0.95-1.5]; n ‫؍‬ 74 cases observed versus 61.3 expected), but carriers of rearrangements involving chromosomes 2, 19, and 21 were at significantly increased risk. For the specific autoimmune diseases studied, cohort members were at significantly increased risk of Dupuytren's contracture, pernicious anemia, and juvenile rheumatoid arthritis (JRA). Sixteen carriers who developed an autoimmune disease had a chromosomal breakpoint or deletion coinciding with a previously suggested locus, including deletions 18p11, 18q22, and 22q11 associated with JRA.Conclusion. CSCR carriers do not have a generalized predisposition to autoimmune diseases. However, we confirmed a number of reported susceptibility loci for JRA, and we suggest new susceptibility loci on chromosomes 5 and 11 for Dupuytren's contracture, and 19p13 as a possible shared susceptibility locus for a range of autoimmune diseases.Autoimmune diseases are a complex group of chronic diseases characterized by the loss of immune tolerance to self antigens. The etiology of most autoimmune diseases is unknown, but genetic risk factors, including the major histocompatibility complex (MHC), are believed to be involved together with environmental factors (1). The MHC and some of the non-MHC susceptibility genes are suggested to be shared by different autoimmune diseases, which might possibly explain the occasional observation of different autoimmune diseases within the same family and individuals with several different autoimmune diseases (2).To date, strategies for identifying genes associated with complex diseases have been based primarily on the mapping of susceptibility loci by linkage and association studies. The inherent difficulties of these approaches are due to the genetic heterogeneity associated with complex disorders, families with few affected members, incomplete penetrance, variable age at onset, and difficulties associated with diagnostic criteria. In monogenic disorders, a fruitful alternative approach has been to identify affected individuals with unique chromosomal rearrangements...

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Section: Discussioncontrasting

confidence: 44%

Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

Bache¹,

Nielsen²,

Rostgaard³

et al. 2007

Arthritis & Rheumatism

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“…Fluorescence in situ hybridization (FISH) has demonstrated chromosomal instability in fibroblast cultures derived from DD lesions, with numerical (autosomal trisomies and monosomies, gain or loss of Y chromosome) and structural (insertion/deletion) chromosomal abnormalities described. 52,53 FISH has also shown chromosomal instability in fibroblasts derived from human PD plaques. 54 Perhaps most strikingly, fibroblasts derived from human PD lesions can result in tumors when injected into immunodeficient mice 55 .…”

Section: Malignant Potentialmentioning

confidence: 99%

Peyronie’s Disease: A Review of Etiology, Diagnosis, and Management

Bilgutay

Pastuszak

2015

Curr Sex Health Rep

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Peyronie’s Disease (PD) is a superficial fibrosing disorder of the penis resulting in plaque formation and penile deformity. Once considered rare, PD has more recently been found in up to 13% of men, and can negatively affect sexual and psychosocial function of both patients and their partners. While the etiology of PD is unclear, it is thought to result from an inciting traumatic event followed by aberrant fibrosis or dysregulated wound healing. The evaluation of men presenting with PD includes a detailed history and physical exam, focusing on the penis in both the flaccid and erect states. PD is often associated with erectile dysfunction (ED), as well as several other comorbidities. Laboratory testing is not needed to diagnose PD, although given the associations between PD and systemic diseases including hypogonadism, diabetes, and cardiovascular disease, screening and work-up for these conditions in men with PD may be warranted. Treatment modalities for PD are diverse and include oral, topical, intralesional, mechanical, and surgical therapies. Oral, topical, and mechanical therapies generally have little evidence supporting their efficacy. Several intralesional therapies, including interferon α2b and collagenase Clostridium hystiolyticum have demonstrated efficacy in the treatment of PD. Surgical treatment, indicated in men with significant, stable deformity, includes plication of the tunica albuginea, plaque incision/excision and grafting, and placement of inflatable penile prosthesis (IPP) with or without additional maneuvers to achieve desired results, and has high success rates.

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“…7 Several studies have investigated the molecular pathogenesis of Dupuytren's contracture. These include gene-expression profiling, 5,[8][9][10][11][12] cytogenetic profiling, [13][14][15][16] and proteomic profiling. 17 These studies have identified genes that may potentially be involved in its pathogenesis.…”

mentioning

confidence: 99%

Unique microRNA profile in Dupuytren's contracture supports deregulation of β-catenin pathway

et al. 2010

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Cytogenetic and interphase cytogenetic analyses reveal chromosome instability but no clonal trisomy 8 in dupuytren contracture

Cited by 21 publications

References 6 publications

Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

Peyronie’s Disease: A Review of Etiology, Diagnosis, and Management

Unique microRNA profile in Dupuytren's contracture supports deregulation of β-catenin pathway

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