A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye?
We describe the case of a pediatric patient who was eventually diagnosed with a pathogenic DICER1 germline variant after undergoing resection of a cystic nephroma and pleuropulmonary blastoma. (Source: Urology)
Source: Urology - February 8, 2021 Category: Urology & Nephrology Authors: Daniel S. Han, David J. Chalmers, Brian Greffe, Timothy Garrington, David Partrick, Mark Lovell, Kami Wolfe Schneider, Nicholas G. Cost Tags: Pediatric Case Reports Source Type: research
DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk
DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene. The risk to present a neoplasm before the age of 10 years is 5.3 and 31.5% before the age of 60. DICER1 variants have been associated with a syndrome involving familial pleuropulmonary blastoma (PPB), a rare malignant tumor of the lung, which occurs primarily in children under the age of 6 years and represents the most common life-threatening manifestation of DICER1 syndrome. Type I, II, III, and Ir (type I regressed) PPB are reported with a 5-year overall survival ranging from 53 to 100% (for type Ir). ...
Source: Frontiers in Oncology - January 21, 2021 Category: Cancer & Oncology Source Type: research
First person - Kim Landry-Truchon and Nicolas Houde [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Kim Landry-Truchon is first author on ‘Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis’, published in DMM. Kim is a research assistant in the lab of Lucie Jeannotte at Centre de recherche du CHU de Québec-Université Laval, Québec, Canada, investigating organ development and the regulatory networks involved. ...
Source: DMM Disease Models and Mechanisms - December 29, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis [RESEARCH ARTICLE]
This article has an associated First Person interview with the joint first authors of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 29, 2020 Category: Biomedical Science Authors: Landry-Truchon, K., Houde, N., Lhuillier, M., Charron, L., Hadchouel, A., Delacourt, C., Foulkes, W. D., Galmiche-Rolland, L., Jeannotte, L. Tags: Cancer, Developmental Disorders RESEARCH ARTICLE Source Type: research
GSE163678 Defining the activated FABP7 satellite myogenic cells in pleuropulmonary blastoma using single cell sequencing
Conclusions: Our results roughly defined muscle heterogeneity in PPB and found activated and proliferating FABP7 satellite myogenic cells. And these satellite cells might be activated by microRNA regulation induced by the mutation of PPB classic mutation gene DICER1. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - December 22, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions
AbstractFetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM –BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to a rise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree i...
Source: Pediatric Radiology - November 30, 2020 Category: Radiology Source Type: research
Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome
Conclusion: This case exemplifies that thyroid incidentalomas in DICER1 syndrome patients should be viewed with great suspicion, but that not all thyroid disorders are indeedDICER1-related in these patients.Eur Thyroid J (Source: European Thyroid Journal)
Source: European Thyroid Journal - November 4, 2020 Category: Endocrinology Source Type: research
Lack of Pathogenic Germline DICER1 Variants in Males with Testicular Germ-Cell Tumors
Pathogenic germline DICER1 variants increase the risk for a spectrum of benign and malignant tumors, mainly pleuropulmonary blastoma, cystic nephroma, thyroid carcinoma and ovarian sex cord-stromal tumors, especially Sertoli-Leydig cell tumors (SLCT) and gynandroblastoma [1-4]. The DICER1 gene is involved in the production of microRNA (miRNA), a small non-coding RNA important in post-transcriptional regulation of gene expression. Given the known association between ovarian tumors and germline DICER1 variation, we sought to investigate the relationship, if any, between variants in DICER1 and testicular germ cell tumors. (So...
Source: Cancer Genetics and Cytogenetics - October 24, 2020 Category: Genetics & Stem Cells Authors: Lauren M. Vasta, Mary L. McMaster, Laura A. Harney, Alexander Ling, Jung Kim, Anne K. Harris, Ann G. Carr, Scott M. Damrauer, Daniel J. Rader, Rachel L. Kember, Peter A. Kanetsky, Katherine L. Nathanson, Louise C. Pyle, Mark H. Greene, Kris Ann Schultz, D Tags: Original article Source Type: research
Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report
Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies and are among the most common DICER1-related disorders: it is estimated that 75 –80% of children with a PPB have the DICER1 mutation... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - October 7, 2020 Category: Pediatrics Authors: Shihan Zhang, Xisi Wang, Sihui Li, Siyu Cai, Tong Yu, Libing Fu, Na Zhang, Xiaoxia Peng, Qi Zeng and Xiaoli Ma Tags: Case report Source Type: research
Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report
ConclusionsPPB is rare, especially in monozygotic twins. We emphasise the importance of genetic testing and follow-up in monozygotic twins with PPB. During the follow-up, children surviving PPB should be monitored closely for growth and development disorders which caused by chemotherapy. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - October 6, 2020 Category: Pediatrics Source Type: research
Pleuropulmonary blastoma: Difficulty in diagnosis and treatment of a case in Vietnam
. (Source: Pediatric Hematology and Oncology)
Source: Pediatric Hematology and Oncology - September 26, 2020 Category: Pediatrics Authors: Bui Ngoc Lan Le Thi Kim Ngoc Hoang Ngoc Thach Phan Canh Duy Source Type: research
Endobronchial pulmonary blastoma - an unusual presentation of a rare lung malignancy and review of literature.
Authors: Shadrach BJ, Vedant D, Vishwajeet V, Jain P, Dutt N, Surekha B, Pareek P, Abhay Elhence P
Abstract
Biphasic pulmonary blastoma (BPB) is an extremely rare highly aggressive malignant tumor that arises from fetal lung tissue and has the classical biphasic histology of epithelial and mesenchymal components. It is usually seen in adults with a slight male predominance and smokers. Previously grouped along with well-differentiated fetal adenocarcinoma (WDFA), and pleuropulmonary blastoma (PPB), now it is considered a separate variant and grouped under sarcomatoid neoplasms. Symptoms include chest pain,...
Source: Monaldi Archives for Chest Disease - August 1, 2020 Category: Respiratory Medicine Tags: Monaldi Arch Chest Dis Source Type: research
Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16 ‐year‐old female
Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation forDICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other clinical manifestations of this syndrome are present or develop. AbstractPulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation forDICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is a pleuropulmonary blastoma, or other c...
Source: Clinical Case Reports - July 16, 2020 Category: General Medicine Authors: James D. Tutor,
Stephen F. Miller,
Hiba Al Zubeidi,
Anthony Sheyn,
Jie Zhang,
Regan Williams,
Rose B. McGee Tags: CASE REPORT Source Type: research
Pleuropulmonary blastoma in an adolescent
Publication date: Available online 23 May 2020Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Laura V. Bownes, Sara C. Hutchins, Agustin M. Cardenas, David R. Kelly, Elizabeth A. Beierle (Source: Journal of Pediatric Surgery Case Reports)
Source: Journal of Pediatric Surgery Case Reports - May 24, 2020 Category: Surgery Source Type: research
Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation
Modern Pathology, Published online: 15 May 2020; doi:10.1038/s41379-020-0558-4Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation (Source: Modern Pathology)
Source: Modern Pathology - May 14, 2020 Category: Pathology Authors: Kris Ann P. Schultz Alexander Nelson Anne K. Harris Mike Finch Amanda Field Jason A. Jarzembowski Mercedes Wilhelm William Mize Portia Kreiger Katrina Conard Andrew Walter Thomas Olson Sarah Mitchell Daniel V. Runco Allison Bechtel Darren Klawinski Scott Source Type: research
