Crescentic glomerulonephritis in the pediatric population
Pathology
Novak R; Agamanolis D; Dresner I
Modern Pathology
1998
1998-01
Journal Article
n/a
Exome Sequencing Identifies a Novel EP300 Frame Shift Mutation in a Patient With Features That Overlap Cornelia de Lange Syndrome
cbp; Cornelia de Lange syndrome; creb-binding protein; embryonic stem-cells; EP300; genetic-heterogeneity; Genetics & Heredity; MCA/ID; p300; Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome; transcriptional coactivators; whole exome sequencing
Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS. A diagnosis of RTS or CdLS is molecularly confirmed in only 65% of clinically identified cases, suggesting that additional causative genes exist for both conditions. In addition, although EP300 and CREBBP encode homologous proteins and perform similar functions, only eight EP300 positive RTS patients have been reported, suggesting that patients with EP300 mutations might be escaping clinical recognition. We report on a child with multiple congenital abnormalities and intellectual disability whose facial features and complex phenotype resemble CdLS. However, no mutations in CdLS-related genes were identified. Rather, a novel EP300 mutation was found on whole exome sequencing. Possible links between EP300 and genes causing CdLS are evident in the literature. Both EP300 and HDAC8 are involved in the regulation of TP53 transcriptional activity. In addition, p300 and other chromatin associated proteins, including NIPBL, SMCA1, and SMC3, have been found at enhancer regions in different cell types. It is therefore possible that EP300 and CdLS-related genes are involved in additional shared pathways, producing overlapping phenotypes. As whole exome sequencing becomes more widely utilized, the diverse phenotypes associated with EP300 mutations should be better understood. In the meantime, testing for EP300 mutations in those with features of CdLS may be warranted. (c) 2013 Wiley Periodicals, Inc.
Woods S A; Robinson H B; Kohler L J; Agamanolis D; Sterbenz G; Khalifa M
American Journal of Medical Genetics Part A
2014
2014-01
Journal Article
<a href="http://doi.org/10.1002/ajmg.a.36237" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36237</a>
Trisomy 8 is a characteristic finding in pleuropulmonary blastoma
aberrations; childhood; chromosomal-abnormalities; mosaicism; Pathology; Pediatrics; pleuropulmonary blastoma; pulmonary blastoma; trisomy 8; tumors
The cytogenetic findings in pleuropulmonary blastoma (PPB) have not been widely studied and reported and are of interest in view of the implications that PPB has for additional tumors in the patient and the patient's relatives. Using standard tumor cytogenetic methodology, we investigated three cases of PPB encountered in our institution over a 5-year period. Trisomy 8 was the only karyotypic abnormality in a localized type 2 PPB and was present with other abnormalities in another type 2 PPB and a massive type 3 PPB. Review of the literature yielded three additional karyotyped PPBs; all had trisomy 8 as part of the abnormalities detected. Trisomy 8 appears to be a characteristic of PPB and may be related to the development of PPB and related tumors.
Novak R; Dasu S; Agamanolis D; Herold W; Malone J; Waterson J
Pediatric Pathology & Laboratory Medicine
1997
1997-01
Journal Article
<a href="http://doi.org/10.1080/107710497175056" target="_blank" rel="noreferrer noopener">10.1080/107710497175056</a>
Melanotic schwannoma. An unusual case of an ossified soft tissue mass.
Adult; Biopsy; Chronic Disease; Diagnosis; Differential; Female; Heterotopic/*diagnosis/pathology/surgery; Hip; Humans; Immunohistochemistry; Muscle Neoplasms/*diagnosis/pathology/surgery; Myositis Ossificans/diagnosis; Neurilemmoma/*diagnosis/pathology/surgery; Ossification; Soft Tissue Neoplasms/*diagnosis/pathology/surgery
A case of a melanotic schwannoma presenting as a soft tissue mass of the abductors of the hip is reported. The radiographic findings suggested myositis ossificans, but several subtle findings raised the concern for something else. A bilobed appearance, lack of classic zoning pattern of the ossification, and atypical pain pattern should alert the physician. Biopsy should be considered if the radiographic and clinical presentations are not classic for myositis ossificans.
Junko J T; Agamanolis D; Weiner S D
Clinical orthopaedics and related research
1999
1999-12
Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1097/00003086-199912000-00031" target="_blank" rel="noreferrer noopener">10.1097/00003086-199912000-00031</a>