Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature

Conclusions: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research

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In this study, we used genetically and biochemically well characterized cells bearing the pathogenic microdeletion m.15,649–15,666 (ΔI300-P305) in MT-CYB gene, to investigate the effects of an assembly-hampered CIII on the re-organization of supercomplexes. First, we found that this mutation also affects the stability of both CI and CIV, and evidences the occurrence of a preferential structural interaction between CI and CIII2, yielding a small amount of active CI + CIII2 supercomplex. Indeed, a residual CI + CIII combined redox activity, and a low but detectable ATP synthesis driven by CI substrates ar...
Source: Biochimica et Biophysica Acta (BBA) Bioenergetics - Category: Biochemistry Source Type: research
In conclusion, fetal pleural effusion has a close correlation with chromosomal abnormality. CMA may increase the detection rate of chromosomal aberrations, especially for micro-deletion or micro-duplication syndromes. In the South of China, Thalassemia must be considered when a fetal pleural effusion is detected.Impact statementWhat is already known on this subject? The aetiology of fetal pleural effusion includes a chromosomal abnormality, a congenital heart disease, congenital infections and a number of genetic syndromes.What do the results of this study add? This is the first retrospective study to analyse the aetiology...
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
CONCLUSIONS: DGCR5 enhances NSCLC cell migration and invasion via targeting miR-218-5p, indicating that DGCR5 may be a potential therapeutic target in NSCLC. PMID: 31799664 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Contributors : Tae-Yeon Eom ; Seung B Han ; Jieun Kim ; Jay Blundon ; Yong-Dong Wang ; Jing Yu ; Matthew Eicholtz ; Derek C Rose ; Kara Anderson ; Damian B Kaminski ; Stanislav S ZakharenkoSeries Type : Non-coding RNA profiling by arrayOrganism : Mus musculusProgressive ventricular enlargement is one of the most reproducible and recognizable structural abnormalities in schizophrenia, and is associated with more severe symptoms and poorer clinical outcome. The mechanisms of ventricular enlargement in schizophrenia is unknown. We identified that progressive ventricular enlargement is associated with deceleration of motile ci...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by array Mus musculus Source Type: research
Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of ...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
In conclusion, primary sarcomas of the larynx a re rare but tend to present with early symptoms. This likely allows for earlier detection and intervention as compared to their counterparts in other deep soft tissue locations. Pathologically, it is important, although difficult in some cases, to distinguish these neoplasms from sarcomatoid carcino ma and reactive processes. Careful morphologic and immunohistochemical evaluation, as well as correlation with the clinical and radiologic findings, is important for accurate tumor classification.
Source: Head and Neck Pathology - Category: Pathology Source Type: research
Abstract Mitochondrial antiviral signaling protein (MAVS), a crucial adaptor protein localized on mitochondria, plays vital roles in various biological processes. Autophagy and apoptosis are two independent and closely linked cell death pathways. But whether MAVS could induce apoptosis and autophagy in rhabdomyosarcoma cells (RD cells) and what is the relationship between autophagy and apoptosis still remains elusive. Here, we reveal that overexpression of MAVS could trigger both apoptosis and autophagy in RD cells. Interestingly, MAVS-induced apoptosis was dependent on the activation of the c-Jun N-terminal kinas...
Source: Acta Virologica - Category: Infectious Diseases Authors: Tags: Acta Virol Source Type: research
Publication date: December 2019Source: Canadian Journal of Cardiology, Volume 35, Issue 12Author(s): Sarah Cohen, Michelle Z. Gurvitz, Virginie Beauséjour-Ladouceur, Patrick R. Lawler, Judith Therrien, Ariane J. MarelliAbstractAs life expectancy in patients with congenital heart disease (CHD) has improved, the risk for developing noncardiac morbidities is increasing in adult patients with CHD (ACHD). Among these noncardiac complications, malignancies significantly contribute to the disease burden of ACHD patients. Epidemiologic studies of cancer risk in CHD patients are challenging because they require large numbers...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
AbstractPediatric and adolescent renal tumors account for approximately 7% of all new cancer diagnoses in the USA each year. The prognosis and treatment are varied based on factors including the underlying histology and tumor stage, with survival rates ranging from greater than 90% in favorable histology Wilms tumor to almost universally fatal in other disease types, including those patients with advanced stage malignant rhabdoid tumor and renal medullary carcinoma. In recent years, our understanding of the underlying genetic drivers of the different types of pediatric kidney cancer has dramatically increased, opening the ...
Source: Cancer and Metastasis Reviews - Category: Cancer & Oncology Source Type: research
The aim of the study was to assess the prognostic significance of nephron-sparing surgery (NSS) without tumor size limits as a risk factor for relapse in children with unilateral Wilms Tumor (WT).
Source: Journal of Surgical Research - Category: Surgery Authors: Source Type: research
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