DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma
Modern Pathology, Published online: 01 October 2021; doi:10.1038/s41379-021-00905-8DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma (Source: Modern Pathology)
Source: Modern Pathology - October 1, 2021 Category: Pathology Authors: Iv án A. González Douglas R. Stewart Kris Ann P. Schultz Amanda P. Field D. Ashley Hill Louis P. Dehner Source Type: research
Extrapulmonary pleuropulmonary blastoma in a 3-year-old child: A case report and review of literature
We report a case of a 3-year-old male child with Type 2 PPB of the left hemithorax, managed by surgical excision of the mass and adjuvant chemotherapy. (Source: Journal of Indian Association of Pediatric Surgeons)
Source: Journal of Indian Association of Pediatric Surgeons - September 16, 2021 Category: Surgery Authors: Mokarram Ali Muneer Abas Malik Nitin James Peters Manasa Reddy Ram Samujh Source Type: research
Obstructive shock in pediatric patient with congenital cystic adenomatoid malformation: A case report
CONCLUSION: Obstructive shock is one of complication that might occur in pleuropulmonary blastoma.PMID:34381602 | PMC:PMC8340041 | DOI:10.1016/j.amsu.2021.102614 (Source: Annals of Medicine)
Source: Annals of Medicine - August 12, 2021 Category: Internal Medicine Authors: Puspita Ayu Margaretha Desy Rusmawatiningtyas Firdian Makrufardi Intan Fatah Kumara None Nurnaningsih Source Type: research
Unusual phenotypes in patients with a pathogenic germline variant in DICER1
AbstractPathogenic germlineDICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missenseDICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms ’ tumor) syndrome. Here, we report four families with germlineDICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penet...
Source: Familial Cancer - July 31, 2021 Category: Cancer & Oncology Source Type: research
DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case
AbstractDICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation.DICER1 germline (associated with the inheritedDICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid ...
Source: Head and Neck Pathology - July 19, 2021 Category: Pathology Source Type: research
Nasal Chondromesenchymal Hamartoma in a Patient With DICER1-Predisposition Syndrome
We present the case of an 8-year-old girl with a history of pleuropulmonary blastoma who presented with worsening nasal obstruction and clinical symptoms of sinusitis secondary to a nasal CMH. The diagnosis of nasal CMH is discussed, as well as DICER1 syndrome. (Source: Pathology Case Reviews)
Source: Pathology Case Reviews - July 1, 2021 Category: Pathology Tags: Case Reports Source Type: research
Whole-Genome Methylation Study of Congenital Lung Malformations in Children
ConclusionsMethylation anomalies already described in lung tumors and also shared by the PPB were found in congenital lung malformations, regardless the histology. The presence of methylation abnormalities is suggestive of a correlation between congenital lung malformations and some step of malignant transformation. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - June 28, 2021 Category: Cancer & Oncology Source Type: research
Multimodality Imaging of Pleuropulmonary Blastoma: Pearls, Pitfalls, and Differential Diagnosis
Publication date: Available online 15 May 2021Source: Seminars in Ultrasound, CT and MRIAuthor(s): Stephan S Leung, Achala Donuru, Vinay Kandula, Maansi R Parekh, David Saul (Source: Seminars in Ultrasound, CT and MRI)
Source: Seminars in Ultrasound, CT and MRI - May 16, 2021 Category: Radiology Source Type: research
Reply: pleuropulmonary blastoma-like peritoneal sarcoma and DICER1-associated sarcomas: toward a unified nomenclature
Modern Pathology, Published online: 19 April 2021; doi:10.1038/s41379-021-00810-0Reply: pleuropulmonary blastoma-like peritoneal sarcoma and DICER1-associated sarcomas: toward a unified nomenclature (Source: Modern Pathology)
Source: Modern Pathology - April 19, 2021 Category: Pathology Authors: Louis P. Dehner D. Ashley Hill Douglas R. Stewart Kris Ann P. Schultz Source Type: research
Expression of p53 is significantly associated with recurrence-free survival and overall survival in pleuropulmonary blastoma (PPB): a report from the International Pleuropulmonary Blastoma/DICER1 Registry
Modern Pathology, Published online: 26 February 2021; doi:10.1038/s41379-021-00735-8Expression of p53 is significantly associated with recurrence-free survival and overall survival in pleuropulmonary blastoma (PPB): a report from the International Pleuropulmonary Blastoma/DICER1 Registry (Source: Modern Pathology)
Source: Modern Pathology - February 26, 2021 Category: Pathology Authors: Iv án A. González Paige Mallinger Dave Watson Anne K. Harris Yoav H. Messinger Kris Ann P. Schultz Amanda Field D. Ashley Hill Louis P. Dehner Source Type: research
Rare Infant Case of Pulmonary Aspergilloma Highlighting Common Challenges With Voriconazole Dosing
We describe a 6-week-old male-term infant with a pulmonary aspergilloma diagnosed following lobectomy for suspected pleuropulmonary blastoma, with characteristic histopathologic findings and Aspergillus detected by polymerase chain reaction. Intensive testing did not reveal primary or secondary immunodeficiency. During 5 weeks treatment with voriconazole including regular therapeutic drug monitoring and dose adjustment, a level in the target range was never achieved. When the patient developed photosensitivity, treatment was stopped without relapse over 12 months follow-up. Voriconazole dosing is notoriously challenging in...
Source: The Pediatric Infectious Disease Journal - February 16, 2021 Category: Infectious Diseases Tags: Antimicrobial Reports Source Type: research
Pleuropulmonary Blastoma with Hotspot Mutations in RNase IIIb Domain of DICER 1: Clinicopathologic Study of 10 Cases in a Single-Institute Experience
Conclusions: Late detection of solid PPB is associated with poor prognosis. Considering the rarity of PPB disease and the importance ofDICER1 hotspot mutation in pathogenesis,DICER1 hotspot mutation testing and identification in the early cystic stage can improve patient outcomes.Pathobiology (Source: Pathobiology)
Source: Pathobiology - February 10, 2021 Category: Pathology Source Type: research
