-Pleuropulmonary Blastoma Familial Tumor Predisposition Syndrome: what the pediatric urologist needs to know
Germline inactivating DICER1 mutations are responsible of a familial tumour susceptibility syndrome with an increased risk of tumours, mainly pleuropulmonary blastoma (PPB). DICER1 mutations also cause a range of other tumours, some of them in urogenital organs (cystic nephroma [CN], ovarian sex-cord stromal tumours, bladder and cervix embryonal rhabdomyosarcoma [ERMS]). (Source: Journal of Pediatric Urology)
Source: Journal of Pediatric Urology - September 24, 2015 Category: Urology & Nephrology Authors: Alice Faure, John Atkinson, Aurore Bouty, Mike O’Brien, Guillaume Levard, John Hutson, Yves Heloury Tags: Review Article Source Type: research
Ovarian tumors related to intronic mutations in DICER1 : a report from the international ovarian and testicular stromal tumor registry
In this report, a young woman presented with ovarian undifferentiated sarcoma. Four years later, she presented with SLCT. She was successfully treated for both malignancies. Sequence results showed a germline intronic mutation in DICER1. This mutation results in an exact duplication of the six bases at the splice site at the intron 23 and exon 24 junction. Predicted improper splicing leads to inclusion of 10 bases of intronic sequence, frameshift and premature truncation of the protein disrupting the RNase IIIb domain. A second individual with SLCT was found to have an identical germline mutation. In each of the ovarian tu...
Source: Familial Cancer - August 20, 2015 Category: Cancer & Oncology Source Type: research
Abstract 4934: Mosaic RNase IIIb domain DICER1 mutations in children with multiple primary tumors
We describe four children with multiple primary tumours associated with the DICER1 syndrome. Sanger sequencing of constitutional DNA obtained from peripheral blood lymphocytes and/or saliva revealed no likely deleterious germ-line DICER1 mutations. We subsequently sequenced the region encoding the DICER1 RNase IIIa and RNase IIIb domains in gDNA extracted from the tumor samples, and noted the presence of the same RNase IIIb missense mutation in multiple tumors from each patient (Patient A: c.5437G>C; Patient B: c.5125G>A; Patient C: c.5439G>C; Patient D: c.5425G>A). We performed targeted capture followed by deep sequencing...
Source: Cancer Research - August 2, 2015 Category: Cancer & Oncology Authors: de Kock, L., Rivera Polo, B., Wu, M., Weber, E., Sandoval, C., Hopman, S. M. J., Merks, J. H. M., van Hagen, A., Plager, D. A., Sabbaghian, N., Hamel, N., Bouron-Dal Soglio, D., Priest, J. R., Foulkes, W. D. Tags: Molecular and Cellular Biology Source Type: research
Morbidity after elective resection of prenatally diagnosed asymptomatic congenital pulmonary airway malformations
ConclusionResection of prenatally diagnosed asymptomatic CPAM is associated with a significant risk of complications, which may be life threatening. These data contribute to a balanced discussion of risks and benefits for these children. Pediatr Pulmonol. 2015; 9999:1–6. © 2015 Wiley Periodicals, Inc. (Source: Pediatric Pulmonology)
Source: Pediatric Pulmonology - July 29, 2015 Category: Respiratory Medicine Authors: Nigel J. Hall, Priscilla P.L. Chiu, Jacob C. Langer Tags: Original Article Source Type: research
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation
We present the first case, to our knowledge, of a neonate with pleuropulmonary blastoma and myelomeningocele, though prenatally diagnosed as a congenital pulmonary airway malformation. We detail the prenatal imaging that facilitated counseling and delivery management in addition to the correlating postnatal imaging.Fetal Diagn Ther (Source: Fetal Diagnosis and Therapy)
Source: Fetal Diagnosis and Therapy - July 24, 2015 Category: Perinatology & Neonatology Source Type: research
