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Asian Journal of Surgery May 2024
PubMed: 38749832
DOI: 10.1016/j.asjsur.2024.04.204 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2024Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor,... (Review)
Review
Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor, hamartoma, primary pulmonary paraganglioma, carcinoid tumor, mucoepidermoid carcinoma, pleuropulmonary blastoma, adenocarcinoma, squamous cell carcinoma, and sarcomas. Nonspecific clinical and radiological findings result in late and incorrect diagnoses. Although surgical resection is the initial and proper treatment method, additional adjuvant therapy is dependent on both tumor stage and histopathologic type.
PubMed: 38584790
DOI: 10.5606/tgkdc.dergisi.2024.25863 -
Seminars in Ultrasound, CT, and MR Feb 2022Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary... (Review)
Review
Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary malignancies in children. Pleuropulmonary blastomas are classified as cystic (type I), mixed cystic and solid (type II), and solid (type III). Pleuropulmonary blastoma occurs in the same age group (0-6 years) as other more common solid tumors such as neuroblastoma and Wilms tumor. Differential diagnosis includes metastasis from Wilms tumor and macrocystic congenital pulmonary airway malformation (CPAM). A key pathologic and genetic discriminator is the DICER1 germline mutation found in patients with pleuropulmonary blastoma. Imaging, histopathologic, and clinical data are important to use in conjunction in order to determine the diagnosis and risk stratification of pleuropulmonary blastomas. Survival varies from poor to good, depending on type. However, the spectrum of pleuropulmonary blastoma is insufficiently understood due to the variable presentation of this rare disease. We present a current review of the literature regarding pleuropulmonary blastomas in this article.
Topics: Child; Child, Preschool; Cystic Adenomatoid Malformation of Lung, Congenital; DEAD-box RNA Helicases; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Lung Neoplasms; Multimodal Imaging; Pulmonary Blastoma; Ribonuclease III
PubMed: 35164911
DOI: 10.1053/j.sult.2021.05.007 -
Journal of Pediatric Surgery Case... Aug 2020Primary pulmonary malignancies are rare in childhood. The most common, pleuropulmonary blastoma (PPB), has an incidence of 25-50 cases per year in the United States...
Primary pulmonary malignancies are rare in childhood. The most common, pleuropulmonary blastoma (PPB), has an incidence of 25-50 cases per year in the United States (Knight and et al., 2019) [1]. The majority of children are diagnosed with PPB before the age of four years. PPB is divided into subtypes I, Ir (type I-regressed), II, and III, which correlates to the age of diagnosis and patient prognosis [2,3]. Here we report an unusual presentation of PPB in a teen-aged female who presented with a one month history of a non-productive cough.
PubMed: 32699772
DOI: 10.1016/j.epsc.2020.101482 -
Blood Advances Jan 2021Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder. Murine models with the loss of DICER1 in hematopoietic... (Review)
Review
Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder. Murine models with the loss of DICER1 in hematopoietic stem cell progenitors demonstrate hematologic aberrations that include reductions in red and white blood cell counts, hemoglobin volume, and impaired maturation resulting in dysplasia. We investigated whether hematologic abnormalities such as those observed in DICER1-deficient mice were observed in humans with a pathogenic germline variant in DICER1. A natural history study of individuals with germline pathogenic DICER1 variants and family controls conducted through the National Cancer Institute (NCI) evaluated enrollees at the National Institutes of Health Clinical Center during a comprehensive clinical outpatient visit that included collecting routine clinical laboratory studies. These were compared against normative laboratory values and compared between the DICER1 carriers and controls. There were no statistical differences in routine clinical hematology laboratory studies observed in DICER1 carriers and family controls. A review of the medical history of DICER1 carriers showed that none of the individuals in the NCI cohort developed myelodysplastic syndrome or leukemia. Query of the International Pleuropulmonary Blastoma/DICER1 Registry revealed 1 DICER1 carrier who developed a secondary leukemia after treatment of pleuropulmonary blastoma. We found limited evidence that the hematologic abnormalities observed in murine DICER1 models developed in our cohort of DICER1 carriers. In addition, no cases of myelodysplastic syndrome were observed in either the NCI cohort or the International Pleuropulmonary Blastoma/DICER1 Registry; 1 case of presumed secondary leukemia was reported. Abnormalities in hematologic indices should not be solely attributed to DICER1. This trial was registered at www.clinicaltrials.gov as #NCT01247597.
Topics: Animals; DEAD-box RNA Helicases; Germ Cells; Germ-Line Mutation; Hematology; Mice; Neoplasms; Pulmonary Blastoma; Ribonuclease III
PubMed: 33570641
DOI: 10.1182/bloodadvances.2020002651 -
Cancer Feb 2023Pleuropulmonary blastoma (PPB) is the most common lung cancer of infancy and early childhood. Type I PPB is a purely cystic lesion that has a microscopic population of...
BACKGROUND
Pleuropulmonary blastoma (PPB) is the most common lung cancer of infancy and early childhood. Type I PPB is a purely cystic lesion that has a microscopic population of primitive small cells with or without rhabdomyoblastic features and may progress to type II or III PPB, whereas type Ir lacks primitive small cells.
METHODS
Children with suspected PPB were enrolled in the International PPB/DICER1 Registry. Pathology was centrally reviewed, and follow-up was ascertained annually.
RESULTS
Between 2006 and 2022, 205 children had centrally reviewed type I or Ir PPB; 39% of children with type I and 5% of children with type Ir PPB received chemotherapy. Outcomes were favorable, although 11 children (nine with type I and two with type Ir PPB) experienced progression to type II/III (n = 8) or regrowth of type I PPB at the surgical site (n = 3), none of whom received chemotherapy before progression. Age and cyst size in combination were more suitable than either factor alone in predicting whether a particular lesion was type I or Ir PPB.
CONCLUSIONS
For young children with type I PPB, outcomes are favorable, but complete resection is indicated because of the risk for progression. Chemotherapy may be useful in a subset of children at increased risk for recurrence/progression. Efforts to risk stratify children with type I PPB to optimize outcomes while reducing treatment-related side effects are underway.
Topics: Child; Humans; Child, Preschool; Pulmonary Blastoma; Lung Neoplasms; Registries; Ribonuclease III; Drug-Related Side Effects and Adverse Reactions; DEAD-box RNA Helicases
PubMed: 36541021
DOI: 10.1002/cncr.34593 -
Journal of Pediatric Genetics Jun 2016In recent years, hereditary cancer syndromes have developed greater interest in the scientific community. Two such syndromes, rhabdoid tumor syndrome and pleuropulmonary... (Review)
Review
In recent years, hereditary cancer syndromes have developed greater interest in the scientific community. Two such syndromes, rhabdoid tumor syndrome and pleuropulmonary blastoma (DICER1) syndrome, have appeared increasingly in the literature. This review will discuss these two syndromes in terms of clinical parameters, associated tumors, and genetic associations.
PubMed: 27617153
DOI: 10.1055/s-0036-1579756 -
Pediatric Pulmonology Sep 2022Pleuropulmonary blastoma (PPB) is a very rare and highly aggressive neoplasm occurring in children, mostly under 6 years of age. We assessed the clinical...
OBJECTIVES
Pleuropulmonary blastoma (PPB) is a very rare and highly aggressive neoplasm occurring in children, mostly under 6 years of age. We assessed the clinical characteristics, treatment modalities, treatment outcomes, and prognostic factors affecting survival in patients with PPB treated at our institution over a 10-year period to improve the prognosis.
METHODS
From November 2008 to November 2019, 31 children (21 boys and 10 girls) with a median age of 30 months (ranging, 22 days to 54 months) were treated at our institution. Here we describe the patient characteristics, treatment modalities, and treatment outcomes. The Kaplan-Meier method was used to estimate the progression-free survival (PFS) and overall survival (OS). Log-rank test was performed for comparison between groups.
RESULTS
Three children were lost to follow-up and two were dead due to postoperative complications. Of the 26 patients included in the follow-up, 16 PPB patients displayed tumor-free survival. The 5-year PFS and OS were 60.4% and 60.1% respectively. By stratified statistical analysis, the 5-year PFS and OS of type I PPB were 100%, while those of type III PPB were 43.7% and 43%, respectively. The 5-year PFS and OS of complete tumor resection were 76.5% and 75.6%, respectively, while those with tumor residue were 31.3%. The 5-year PFS and OS combined with chemotherapy were 62.2% and 61.6%, respectively, while those without chemotherapy were 0%.
CONCLUSIONS
PPB is an aggressive neoplasm. The main factors related to the prognosis of PPB are pathological type, tumor resection degree, and postoperative adjuvant therapy.
Topics: Antineoplastic Combined Chemotherapy Protocols; Child, Preschool; Disease-Free Survival; Female; Humans; Infant; Infant, Newborn; Male; Prognosis; Pulmonary Blastoma; Retrospective Studies
PubMed: 35510654
DOI: 10.1002/ppul.25930 -
Pediatric Blood & Cancer Dec 2021Children with progressive (PD) or relapsed disease (RD) of pleuropulmonary blastoma (PPB) type II/III are known to have a very poor outcome.
BACKGROUND
Children with progressive (PD) or relapsed disease (RD) of pleuropulmonary blastoma (PPB) type II/III are known to have a very poor outcome.
METHODS
A retrospective review of children registered in national and European databases and trials (2000-2018) with diagnosis of PPB type II/III and PD or RD was performed.
RESULTS
A total of 35 patients with PPB were analysed: patients with PD (n = 9) and RD (n = 26). Patients experienced PD at the median age of 3.9 years [range, 0.5-17.8] despite surgery, chemotherapy (CHT, n = 9) and radiotherapy (RT, n = 1) with a median time to progression of 0.58 years [range, 0.02-1.27] from diagnosis. All of them died. Patients suffered from RD at the median age of 4.3 years [1.7-15.1], median delay to relapse 1.03 years [range, 0.03-2.95]. RD occurred locally (n = 12), combined (n = 1) and in metastatic sites (n = 13): central nervous system (n = 11) and unspecified site (n = 2). Patients were treated with salvage CHT (n = 20), surgery (n = 10) ± RT (n = 10). After a median follow-up of 4.2 years [range, 2.1-14.6], a second complete remission (CR) was achieved in nine out of 26 patients. Patients were alive in the second CR (n = 6), in the third CR (n = 1), in partial remission (n = 2) and lost of follow-up (n = 1). Five-year event-free survival (EFS) and overall survival (OS) for patients with RD were both 37% (±19, CI 95%). Local therapy (surgery, RT) had a favourable impact on OS (p = 0.03 and 0.02, respectively).
CONCLUSIONS
Cure of patients with RD of PPB type II/III with multimodal treatment is possible but rare. Progressive PPB is fatal and patients need new treatment options.
Topics: Adolescent; Child; Child, Preschool; Combined Modality Therapy; Humans; Infant; Neoplasm Recurrence, Local; Pulmonary Blastoma; Retrospective Studies
PubMed: 34486213
DOI: 10.1002/pbc.29268