Embryonal sarcoma of the liver in a girl with Cockayne syndrome

2021 ◽  
Author(s):  
Colin Thorbinson ◽  
Anthony Penn ◽  
Pantelis Nicola ◽  
Claire Hardcastle ◽  
Sarah Waller ◽  
...  
Keyword(s):  
Cockayne Syndrome ◽  
Embryonal Sarcoma

scholarly journals Cockayne syndrome B protein acts as an ATP-dependent processivity factor that helps RNA polymerase II overcome nucleosome barriers

2020 ◽  
Vol 117 (41) ◽  
pp. 25486-25493 ◽  
Author(s):  
Jun Xu ◽  
Wei Wang ◽  
Liang Xu ◽  
Jia-Yu Chen ◽  
Jenny Chong ◽  
...  
Keyword(s):  
Rna Polymerase Ii ◽  
Neurological Diseases ◽  
Transcription Elongation ◽  
Cockayne Syndrome ◽  
Stable Complex ◽  
Loss Of Function ◽  
Pol Ii ◽  
Chromatin Remodelers ◽  
Processivity Factor

While loss-of-function mutations in Cockayne syndrome group B protein (CSB) cause neurological diseases, this unique member of the SWI2/SNF2 family of chromatin remodelers has been broadly implicated in transcription elongation and transcription-coupled DNA damage repair, yet its mechanism remains largely elusive. Here, we use a reconstituted in vitro transcription system with purified polymerase II (Pol II) and Rad26, a yeast ortholog of CSB, to study the role of CSB in transcription elongation through nucleosome barriers. We show that CSB forms a stable complex with Pol II and acts as an ATP-dependent processivity factor that helps Pol II across a nucleosome barrier. This noncanonical mechanism is distinct from the canonical modes of chromatin remodelers that directly engage and remodel nucleosomes or transcription elongation factors that facilitate Pol II nucleosome bypass without hydrolyzing ATP. We propose a model where CSB facilitates gene expression by helping Pol II bypass chromatin obstacles while maintaining their structures.

Liver transplant for relapsed undifferentiated embryonal sarcoma in a young child

2009 ◽  
Vol 44 (12) ◽  
pp. e1-e3 ◽  
Author(s):  
Michael J. Kelly ◽  
Laura Martin ◽  
Maria Alonso ◽  
Rachel A. Altura
Keyword(s):  
Young Child ◽  
Liver Transplant ◽  
Embryonal Sarcoma

scholarly journals Diagnostic and severity scores for Cockayne syndrome

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
M. A. Spitz ◽  
F. Severac ◽  
C. Obringer ◽  
S. Baer ◽  
N. Le May ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Severity Score ◽  
Wide Spectrum ◽  
Genetic Disorder ◽  
Continuous Distribution ◽  
Cockayne Syndrome ◽  
Clinical Severity ◽  
Diagnostic Score ◽  
Clinical Diagnostic ◽  
Severity Scores

Abstract Background Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from severe prenatal onset to mild adult-onset subtypes. The rarity, complexity and variability of the disease make early diagnosis and severity assessment difficult. Based on similar approaches in other neurodegenerative disorders, we propose to validate diagnostic and severity scores for Cockayne syndrome. Methods Clinical, imaging and genetic data were retrospectively collected from 69 molecularly confirmed CS patients. A clinical diagnostic score and a clinical-radiological diagnostic score for CS were built using a multivariable logistic regression model with a stepwise variable selection procedure. A severity score for CS was designed on five items (head circumference, growth failure, neurosensorial signs, motor autonomy, communication skills) and validated by comparison with classical predefined severity subtypes of CS. Results Short stature, enophtalmos, hearing loss, cataracts, cutaneous photosensitivity, frequent dental caries, enamel hypoplasia, morphological abnormalities of the teeth, areflexia and spasticity were included in the clinical diagnostic score as being the most statistically relevant criteria. Appropriate weights and thresholds were assigned to obtain optimal sensitivity and specificity (95.7% and 86.4% respectively). The severity score was shown to be able to quantitatively differentiate classical predefined subtypes of CS and confirmed the continuous distribution of the clinical presentations in CS. Longitudinal follow-up of the severity score was able to reflect the natural course of the disease. Conclusion The diagnostic and severity scores for CS will facilitate early diagnosis and longitudinal evaluation of future therapeutic interventions. Prospective studies will be needed to confirm these findings.

scholarly journals Undifferentiated Embryonal Sarcoma of the Liver in Children Versus Adults: A National Cancer Database Analysis

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2918
Author(s):  
Ioannis A. Ziogas ◽  
Irving J. Zamora ◽  
Harold N. Lovvorn III ◽  
Christina E. Bailey ◽  
Sophoclis P. Alexopoulos
Keyword(s):  
Surgical Treatment ◽  
Cox Regression ◽  
Clinicopathological Characteristics ◽  
National Cancer Database ◽  
Term Survival ◽  
Long Term Survival ◽  
Risk Of Mortality ◽  
Increased Risk ◽  
Embryonal Sarcoma

This study evaluates the clinicopathological characteristics and outcomes of children vs. adults with undifferentiated embryonal sarcoma of the liver (UESL). A retrospective analysis of 82 children (<18 years) and 41 adults (≥18 years) with UESL registered in the National Cancer Database between 2004–2015 was conducted. No between-group differences were observed regarding tumor size, metastasis, surgical treatment, margin status, and radiation. Children received chemotherapy more often than adults (92.7% vs. 65.9%; p < 0.001). Children demonstrated superior overall survival vs. adults (log-rank, p < 0.001) with 5-year rates of 84.4% vs. 48.2%, respectively. In multivariable Cox regression for all patients, adults demonstrated an increased risk of mortality compared to children (p < 0.001), while metastasis was associated with an increased (p = 0.02) and surgical treatment with a decreased (p = 0.001) risk of mortality. In multivariable Cox regression for surgically-treated patients, adulthood (p = 0.004) and margin-positive resection (p = 0.03) were independently associated with an increased risk of mortality. Multimodal treatment including complete surgical resection and chemotherapy results in long-term survival in most children with UESL. However, adults with UESL have poorer long-term survival that may reflect differences in disease biology and an opportunity to further refine currently available treatment schemas.

Cockayne syndrome with recurrent acute tubulointerstitial nephritis

2006 ◽  
Vol 56 (11) ◽  
pp. 678-682 ◽  
Author(s):  
Satoshi Funaki ◽  
Shori Takahashi ◽  
Hitohiko Murakami ◽  
Kensuke Harada ◽  
Hiroshi Kitamura
Keyword(s):  
Tubulointerstitial Nephritis ◽  
Cockayne Syndrome ◽  
Acute Tubulointerstitial Nephritis

UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice

DNA Repair ◽  
2002 ◽  
Vol 1 (2) ◽  
pp. 143-157 ◽  
Author(s):  
Gijsbertus T.J van der Horst ◽  
Lisiane Meira ◽  
Theo G.M.F Gorgels ◽  
Jan de Wit ◽  
Susana Velasco-Miguel ◽  
...  
Keyword(s):  
Cockayne Syndrome ◽  
Cancer Predisposition ◽  
Mutant Mice ◽  
Uvb Radiation ◽  
Radiation Induced Cancer ◽  
Group A ◽  
Radiation Induced

scholarly journals An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria

Cancer Cell ◽  
2006 ◽  
Vol 10 (2) ◽  
pp. 121-132 ◽  
Author(s):  
Jaan-Olle Andressoo ◽  
James R. Mitchell ◽  
Jan de Wit ◽  
Deborah Hoogstraten ◽  
Marcel Volker ◽  
...  
Keyword(s):  
Mouse Model ◽  
Xeroderma Pigmentosum ◽  
Cockayne Syndrome ◽  
Cancer Predisposition

Myocardial ischemia and delayed recovery after anesthesia in a patient with Cockayne syndrome: A case report

2001 ◽  
Vol 59 (12) ◽  
pp. 1488-1491 ◽  
Author(s):  
Man K. Yuen ◽  
M.R. Chandra Rodrigo ◽  
J.Claude Law Min ◽  
C.K. Antonio Tong
Keyword(s):  
Case Report ◽  
Myocardial Ischemia ◽  
Cockayne Syndrome ◽  
Delayed Recovery

scholarly journals Recognition of RNA Polymerase II and Transcription Bubbles by XPG, CSB, and TFIIH: Insights for Transcription-Coupled Repair and Cockayne Syndrome

2005 ◽  
Vol 20 (2) ◽  
pp. 187-198 ◽  
Author(s):  
Altaf H. Sarker ◽  
Susan E. Tsutakawa ◽  
Seth Kostek ◽  
Cliff Ng ◽  
David S. Shin ◽  
...  
Keyword(s):  
Rna Polymerase ◽  
Rna Polymerase Ii ◽  
Cockayne Syndrome ◽  
Transcription Coupled Repair
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