Background: Pleuropulmonary blastoma (PPB) is the most common lung neoplasms in childhood. Usually presents as recurrent respiratory infections and in some cases as pneumothorax.
Case Report: We report the case of a 2-year-old patient that was diagnosed with PPB, that first manifested as recurrent pneumothorax. Three chest computed tomography were necessary for the diagnosis. The first 2 tomographies showed no abnormalities suggestive of malignancy. The patient had a family history of both PPB and leukemia. Three years and a half after completion of treatment, the patient is in complete remission.
Conclusions: PPB is an uncommon disease but is the most common pulmonary neoplasms in childhood. We must suspect it in patients with a suggestive family history and recurrent pneumothorax in the same location.
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http://dx.doi.org/10.1097/MPH.0b013e3182287d88 | DOI Listing |
Pediatr Blood Cancer
January 2025
Pediatric Hematology and Oncology Department, University Hospital of Caen, Caen, France.
Background And Aims: Primary lung tumors (PLTs) in children are rare, and surgery remains the key to ensure remission. Here we describe the PLTs clinical characteristics, their management, and the pulmonary outcome following surgery.
Methods: We carried out a French national cohort of pediatric PLTs from 2013 to 2023 from the FRACTURE rare pediatric tumors national database.
Virchows Arch
December 2024
Department of Pathology, Boston Children's Hospital & Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Localized cystic lung lesions in pediatric patients encompass a spectrum of benign and rare malignant conditions that are quite distinct from cystic lung disease arising in adulthood. The majority have historically fallen under the diagnostic category of "congenital pulmonary airway malformation," a term that has been used to denote a diverse group of diseases ranging in etiology from ectopia to bronchial atresia to mosaic oncogenic mutation or neoplasia. This article reviews the clinical characteristics, gross and histologic features, and pathogenetic underpinnings of congenital pulmonary airway malformation as well as lesions that enter its histologic differential diagnosis.
View Article and Find Full Text PDFCurr Opin Pediatr
February 2025
International Pleuropulmonary Blastoma/DICER1 Registry.
Purpose Of Review: Pleuropulmonary blastoma (PPB) is a rare primary lung neoplasm of infancy and childhood. The purpose of this review is to highlight recent developments in our understanding of PPB and research strategies to facilitate future rare cancer research.
Recent Findings: The International PPB/DICER1 Registry has recently assembled the largest-ever cohorts of type I and Ir PPB and type II and III PPB.
Purpose: Clinical variant analysis pipelines likely have poor sensitivity to the effects on splicing from variants beyond 10 to 20 bases of exon-intron boundaries. Here, we demonstrate the value of SpliceAI to inform curation of rare variants previously classified as benign/likely benign (B/LB) under current guidelines.
Methods: Exome sequencing data from 576 pediatric cancer patients enrolled in the Texas KidsCanSeq study were filtered for intronic or synonymous variants absent from population databases, predicted to alter splicing via SpliceAI (>0.
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