The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS)
ConclusionsPrimary or secondary microscopically/macroscopically complete tumor resections in combination with chemotherapy correlates with long term survival in children with PPB. J. Surg. Oncol. © 2016 Wiley Periodicals, Inc. (Source: Journal of Surgical Oncology)
Source: Journal of Surgical Oncology - November 30, 2016 Category: Cancer & Oncology Authors: Monika Sparber ‐Sauer, Guido Seitz, Sylvia Kirsch, Christian Vokuhl, Ivo Leuschner, Tobias M. Dantonello, Monika Scheer, Thekla von Kalle, Gustaf Ljungman, Stefan S. Bielack, Thomas Klingebiel, Joerg Fuchs, Ewa Koscielniak, Tags: Research Article Source Type: research
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome
This study describes a novel, heterozygous frameshiftDICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I. By whole-exome sequencing of germline material using peripheral blood-derived DNA, we identified a single base pair duplication within theDICER1 gene (c.3405 dupA) that leads to a frameshift and results in a premature stop in exon 21 (p.Gly1136Arg). The metachronous occurrence of two unrelated tumor entities (eRMS and CBME) in a very young child within a short timeframe should have raised the suspicion of an underly...
Source: Familial Cancer - November 27, 2016 Category: Cancer & Oncology Source Type: research
DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations
AbstractThe familial tumor predisposition syndrome known asDICER1-pleuropulmonary blastoma (PPB) orDICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with theDICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for theDICER1 gene mutation may be important in children with certain/multiple tumors and their families. (Source: Familial Cancer)
Source: Familial Cancer - November 8, 2016 Category: Cancer & Oncology Source Type: research
Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities
We present a 12-year-old girl diagnosed with ASK and, three years later, with thyroid follicular carcinoma (TFC) with DICER1 abnormalities. Germline insertion/deletion (p.G1809_S1814delinsA) and independent somatic mutations (p.E1705K in ASK, p.E1813D in TFC) were identified. All of these abnormalities are in the catalytic domain of RNase IIIb. (Source: Human Pathology)
Source: Human Pathology - September 29, 2016 Category: Pathology Authors: Misa Yoshida, Satoshi Hamanoue, Masafumi Seki, Mio Tanaka, Kenichi Yoshida, Hiroaki Goto, Seishi Ogawa, Junko Takita, Yukichi Tanaka Source Type: research
Pulmonary and pleural pathology: Contributions of Dr. Louis “Pepper” Dehner
Dr. Louis Dehner is an internationally renowned surgical pathologist who has published multiple textbooks and has authored or co-authored nearly 400 original articles in the medical literature. While many think of him as a pediatric pathologist, he has contributed to the literature across virtually the entire breadth of surgical pathology, and the lung and pleura is no exception. This review will highlight Dr. Dehner ׳s contributions to the pulmonary and pleural pathology literature in the areas of infectious disease, medical lung disease and transplant pathology, and a number of neoplasms of the lung and pleura, with the...
Source: Seminars in Diagnostic Pathology - September 20, 2016 Category: Pathology Authors: Jon H. Ritter, D. Ashley Hill Source Type: research
Pulmonary and pleural pathology: Contributions of Dr. Louis “Pepper“ dehner
Dr. Louis Dehner is an internationally renowned surgical pathologist who has published multiple textbooks and has authored or co-authored nearly 400 original articles in the medical literature. While many think of him as a pediatric pathologist, he has contributed to the literature across virtually the entire breadth of surgical pathology, and the lung and pleura is no exception. This review will highlight Dr. Dehner's contributions to the pulmonary and pleural pathology literature in the areas of infectious disease, medical lung disease and transplant pathology, and a number of neoplasms of the lung and pleura, with the r...
Source: Seminars in Diagnostic Pathology - September 20, 2016 Category: Pathology Authors: Jon H. Ritter, D. Ashley Hill Source Type: research
Reply to the Letter to the Editor ‘Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'
Neonatology 2017;111:77-78 (Source: Neonatology)
Source: Neonatology - August 26, 2016 Category: Perinatology & Neonatology Source Type: research
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV.
PMID: 27562209 [PubMed - as supplied by publisher] (Source: Neonatology)
Source: Neonatology - August 25, 2016 Category: Perinatology & Neonatology Authors: Dehner LP, Messinger YH, Williams GM, Stewart DR, Harney LA, Schultz KA, Hill DA Tags: Neonatology Source Type: research
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'.
PMID: 27577236 [PubMed - as supplied by publisher] (Source: Neonatology)
Source: Neonatology - August 25, 2016 Category: Perinatology & Neonatology Authors: Lamas-Pinheiro R, David M, Henriques-Coelho T Tags: Neonatology Source Type: research
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV
Neonatology 2017;111:76 (Source: Neonatology)
Source: Neonatology - August 25, 2016 Category: Perinatology & Neonatology Source Type: research
Pleuro-pulmonary blastoma presenting as a chest wall deformity: a case report
Publication date: Available online 23 June 2016 Source:Journal of Pediatric Surgery Case Reports Author(s): Josefina Sáez B., Juan Carlos Pattillo S., José Fernando Vuletin S. Pleuropulmonary blastoma (PPB) is the most common primary malignancy of the lungs in childhood. It occurs more frequently in children between the ages of 1 and 4 and respiratory symptoms are a common manifestation. Three pathologic types have been defined (type I, II and III), which are related to survival and prognosis. Our case report presents a 1-year old boy who was found to have a chest wall deformity at 10 months of age. Imaging rev...
Source: Journal of Pediatric Surgery Case Reports - July 25, 2016 Category: Surgery Source Type: research
Reply to comment on: DICER1 ‐negative pleuropulmonary blastoma in a patient with selective IgA deficiency
(Source: Pediatric Blood and Cancer)
Source: Pediatric Blood and Cancer - July 22, 2016 Category: Cancer & Oncology Authors: Ying Chen, Siyu Cai, Mei Jin, Xiaoxia Peng, Xiaoli Ma Tags: Letter to the Editor Source Type: research
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child
Abstract
Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome. A 1‐year‐old male was diagnosed with Type I PPB and screened regularly thereafter for detection of intrathoracic and intraabdominal disease. Ten months after diagnosis of PPB, he presented with headaches and vomiting. He was diagnosed with atypical choroid plexus papilloma, a lesion not previously reported with PPB. The presence of central nervous system symptoms in patients with PPB or a phenotype sugg...
Source: Pediatric Blood and Cancer - July 20, 2016 Category: Cancer & Oncology Authors: David J. Liu, Renee Perrier, Xing ‐Chang Wei, Jeffrey T Joseph, Douglas Strother Tags: Brief Report Source Type: research
Comment on: DICER1‐Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency
(Source: Pediatric Blood and Cancer)
Source: Pediatric Blood and Cancer - May 30, 2016 Category: Cancer & Oncology Authors: Douglas R. Stewart, Shannon S. Givens, Anne K. Harris, Gretchen M. Williams, Yoav H. Messinger, Kris Ann P. Schultz, D. Ashley Hill Tags: Letter to the Editor Source Type: research
Somatic DICER1 mutations in adult-onset pulmonary blastoma
Several rare lung tumours morphologically mimic embryonal structures of the developing human lung. Historically, these blastomatous tumours were described under the umbrella term of pulmonary blastoma. Subsequently, distinct entities were recognised, such as childhood pleuropulmonary blastoma (PPB) [1] (International Classification of Diseases for Oncology (ICD-O-3) code 8973/3). Later, adult-onset pulmonary blastoma was separated into well-differentiated fetal adenocarcinoma (WDFA) (ICD 8333/3) and pulmonary blastoma (ICD 8972/3) [2]. Pulmonary blastoma is a biphasic epithelial and mesenchymal malignancy, whereas PPB is p...
Source: European Respiratory Journal - May 30, 2016 Category: Respiratory Medicine Authors: de Kock, L., Bah, I., Brunet, J., Druker, H., Astigarraga, I., Bosch-Barrera, J., Soglio, D. B.-D., Nguyen, V.-H., Malkin, D., Priest, J. R., Foulkes, W. D. Tags: Lung cancer Original Articles: Research letters Source Type: research
