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Bulletin Du Cancer Sep 2010Pleuropulmonary blastoma is an extremely rare and aggressive thoracic tumour seen exclusively in children. The initial symptoms are respiratory and non specific and the...
Pleuropulmonary blastoma is an extremely rare and aggressive thoracic tumour seen exclusively in children. The initial symptoms are respiratory and non specific and the chest X-ray done in that context reveals a thoracic mass. The chest CT scan then leads to the diagnosis of a cystic, mixt or solid mass. The diagnosis will be affirmed on anatomopathology of the tumour or biopsy. There are three different histological types: type I, cystic, type II, cystic and solid and type III, solid exclusively. Type I is less aggressive and its treatment is essentially surgical. Types II and III are highly aggressive and require surgery associated to polychemotherapy. In all cases, surgery is essential and should be the most complete possible. Extension and follow-up exams will include bone scan and brain imagery searching for metastasis as well as abdominal ultrasound searching associated renal lesions because 30% of pleuropulmonary blastoma are part of a familial predisposition syndrome.
Topics: Child; Humans; Lung Neoplasms; Pleural Neoplasms; Prognosis; Pulmonary Blastoma
PubMed: 20813658
DOI: 10.1684/bdc.2010.1172 -
Respiratory Medicine Case Reports 2023Pleuropulmonary blastoma (PPB) is a rare primitive malignant lung cancer that occurs in pediatric age. Its main differential diagnosis is congenital cystic pulmonary...
Pleuropulmonary blastoma (PPB) is a rare primitive malignant lung cancer that occurs in pediatric age. Its main differential diagnosis is congenital cystic pulmonary malformation (CPAM). A 30-day-old infant with respiratory failure obtained a chest x-ray and a computed tomography scan (CT) which revealed hypertensive pneumothorax with multifocal bilateral cysts. After thoracic drainage, the patient underwent multiple thoracoscopic pulmonary resections. The first histological diagnosis was of type 2 CPAM. During the radiological follow-up, an increase in the number and dimension of the lesions was detected. Thus, a histological revision was performed, leading to the diagnosis of type I PPB, at nine months. The patient subsequently underwent chemotherapy. At the five-year follow-up appointment, chest magnetic resonance (MR) and CT scans showed a dimensional increase in size of the lesions, with the risk of recurrent pneumothorax. An upper right lobectomy and wedge resection of the residual cysts were performed. Control MR scans showed normalization of the lung parenchyma and the patient showed substantial clinical improvement.
PubMed: 36579078
DOI: 10.1016/j.rmcr.2022.101793 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Nov 2023
Topics: Humans; Child; Pulmonary Blastoma; Lung Neoplasms
PubMed: 37899323
DOI: 10.3760/cma.j.cn112151-20230413-00256 -
Targeting mutant dicer tumorigenesis in pleuropulmonary blastoma via inhibition of RNA polymerase I.Translational Research : the Journal of... Aug 2023DICER1 mutations predispose to increased risk for various cancers, particularly pleuropulmonary blastoma (PPB), the commonest lung malignancy of childhood. There is a...
DICER1 mutations predispose to increased risk for various cancers, particularly pleuropulmonary blastoma (PPB), the commonest lung malignancy of childhood. There is a paucity of directly actionable molecular targets as these tumors are driven by loss-of-function mutations of DICER1. Therapeutic development for PPB is further limited by a lack of biologically and physiologically-representative disease models. Given recent evidence of Dicer's role as a haploinsufficient tumor suppressor regulating RNA polymerase I (Pol I), Pol I inhibition could abrogate mutant Dicer-mediated accumulation of stalled polymerases to trigger apoptosis. Hence, we developed a novel subpleural orthotopic PPB patient-derived xenograft (PDX) model that retained both RNase IIIa and IIIb hotspot mutations and recapitulated the cardiorespiratory physiology of intra-thoracic disease, and with it evaluated the tolerability and efficacy of first-in-class Pol I inhibitor CX-5461. In PDX tumors, CX-5461 significantly reduced H3K9 di-methylation and increased nuclear p53 expression, within 24 hours' exposure. Following treatment at the maximum tolerated dosing regimen (12 doses, 30 mg/kg), tumors were smaller and less hemorrhagic than controls, with significantly decreased cellular proliferation, and increased apoptosis. As demonstrated in a novel intrathoracic tumor model of PPB, Pol I inhibition with CX-5461 could be a tolerable and clinically-feasible therapeutic strategy for mutant Dicer tumors, inducing antitumor effects by decreasing H3K9 methylation and enhancing p53-mediated apoptosis.
Topics: Humans; RNA Polymerase I; Tumor Suppressor Protein p53; Pulmonary Blastoma; Carcinogenesis; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 36921796
DOI: 10.1016/j.trsl.2023.03.001 -
Case Reports in Pulmonology 2021Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations...
Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.
PubMed: 34745680
DOI: 10.1155/2021/1983864 -
Maternal Health, Neonatology and... May 2023
PubMed: 37231499
DOI: 10.1186/s40748-023-00161-5 -
JAMA Network Open Jun 2022
Topics: Humans; Lung; Pulmonary Blastoma; Radionuclide Imaging; Tomography, X-Ray Computed
PubMed: 35771580
DOI: 10.1001/jamanetworkopen.2022.19826 -
Pediatric Blood & Cancer Sep 2007Pleuropulmonary blastoma (PPB) is a rare tumor of pleura and lung in young children. Central nervous system (CNS) complications, particularly cerebral parenchymal... (Review)
Review
BACKGROUND
Pleuropulmonary blastoma (PPB) is a rare tumor of pleura and lung in young children. Central nervous system (CNS) complications, particularly cerebral parenchymal metastases, occur in aggressive forms of PPB: Types II and III PPB. This article evaluates cerebral and meningeal metastases, cerebrovascular events (CVA) caused by tumor emboli, spinal cord complications, and intracranial second malignancies in PPB.
PROCEDURE
International PPB Registry and literature cases were evaluated for CNS events. Cerebral metastasis patients were evaluated for gender, side of origin of PPB, PPB Type, interval from diagnosis to metastasis, status of chest disease, treatment, and outcome. Standard statistical methods were used to calculate the cumulative probability of cerebral metastasis and survival following metastasis.
RESULTS
Thirty-nine cases of cerebral metastasis were identified in 5/53 Registry Type II cases, 15/44 Registry Type III cases, and 19/143 literature Type II/III cases. Metastases occurred 1-60, median 11.5 months after diagnosis. Chest disease was controlled in 50% of children at time of metastasis. The cumulative probability of cerebral metastasis by 5 years from diagnosis was 11% for Type II patients (95%CI (confidence interval): 2-20%) and 54% for Type III patients (95%CI: 31-76%). Seven children survive cerebral metastasis. Other CNS complications were post-operative CVA (five cases), spinal cord invasion or compression (six), leptomeningeal disease (three), and second intracranial malignancies (two).
CONCLUSIONS
Cerebral metastasis is more frequent in PPB than in other childhood sarcomas. Clinicians should screen for this complication. Diverse other CNS complications are less common and require careful diagnosis.
Topics: Brain Neoplasms; Central Nervous System Neoplasms; Cerebral Cortex; Cerebrovascular Disorders; Child, Preschool; Humans; Infant; Infant, Newborn; Lung Neoplasms; Neoplasms, Second Primary; Neoplastic Cells, Circulating; Pleural Neoplasms; Prognosis; Proportional Hazards Models; Pulmonary Blastoma; Registries; Survival Analysis
PubMed: 16807914
DOI: 10.1002/pbc.20937 -
Pediatric and Developmental Pathology :... 2015Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically...
Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma. More than 65% of all affected children have a heterozygous germline mutation in DICER1. The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.
Topics: Biopsy; Child, Preschool; DEAD-box RNA Helicases; Female; Genetic Predisposition to Disease; Germ-Line Mutation; History, 20th Century; History, 21st Century; Humans; Lung Neoplasms; Male; Neoplastic Syndromes, Hereditary; Phenotype; Prognosis; Pulmonary Blastoma; Ribonuclease III; Terminology as Topic; Tomography, X-Ray Computed
PubMed: 26698637
DOI: 10.2350/15-10-1732-OA.1 -
Case Reports in Pathology 2014The case of 38-month-old boy is being reported who was brought to the pediatrics clinic with fever, cough, hemoptysis, and breathing difficulty. Imaging studies revealed...
The case of 38-month-old boy is being reported who was brought to the pediatrics clinic with fever, cough, hemoptysis, and breathing difficulty. Imaging studies revealed a right lower chest mass. Lobectomy and histopathological examination revealed it to be predominantly solid pleuropulmonary blastoma type II. It is a rare pediatric pleuropulmonary tumor with aggressive behavior and tendency to spread to the brain. The case is being presented to make the general histopathologist aware of this rare entity and to highlight to the pediatric physicians/surgeons, radiologists, and histopathologists the fact that lung cysts in infants and young children should be evaluated seriously and sampled thoroughly to diagnose cases of type I pleuropulmonary blastoma which will progress over time to type II or type III tumors. Also the siblings and first degree relatives of the patient should be screened for associated pulmonary and extrapulmonary benign and malignant conditions.
PubMed: 25177506
DOI: 10.1155/2014/509086