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Indian Journal of Pathology &... 2023Here we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC)...
Here we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a proliferation of primitive mesenchymal cells that initially form air-filled cysts lined by benign-appearing epithelium (type I, cystic). Later on, the mesenchymal cells outgrow the cysts with formation of focal solid areas (type II, solid and cystic) and finally, mainly solid mass (type III, solid PPB).
Topics: Humans; Male; Child; Lung Neoplasms; Pleural Neoplasms; Pulmonary Blastoma; Cysts
PubMed: 37530358
DOI: 10.4103/ijpm.ijpm_781_21 -
International Journal of Surgery Case... Jul 2023Pleuropulmonary blastoma is a rare, aggressive intrathoracic neoplasm of early childhood.
INTRODUCTION
Pleuropulmonary blastoma is a rare, aggressive intrathoracic neoplasm of early childhood.
CASE PRESENTATION
We report a case of a 4-month-old male baby who has presented with recurrent respiratory infections since birth. A surgical team was consulted due to abnormal opacification observed on a chest X-ray. An enhanced-contrast CT scan of the chest revealed a heterogenous, well-delineated mass measuring about 3,8 × 6 cm in the posterior mediastinum. A left posterolateral thoracotomy was performed. The mass was separated from the lung parenchyma, located behind the parietal pleura, and adherent to the chest wall and superior ribs. The lesion was totally removed. Histologically, the lesion was a pleuropulmonary blastoma type III. Currently, the patient is on a 6-month course of chemotherapy.
CLINICAL DISCUSSION
The aggressive, insidious behavior of PPB requires a high index of suspicion for diagnosis. The clinical manifestations and imaging modalities are atypical and nonspecific. However, PPB should be kept in mind when a huge solid or cystic mass is observed in the lung field on imaging.
CONCLUSION
Extrapulmonary pleuropulmonary blastoma is a very rare entity characterized by highly aggressive behavior and a poor prognosis. Early excision of thoracic cystic lesions in children is warranted regardless of the symptoms to avoid future mishaps.
PubMed: 37423144
DOI: 10.1016/j.ijscr.2023.108461 -
Children (Basel, Switzerland) May 2023Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other... (Review)
Review
Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other lung neoplasms. A review of the literature, together with the first European case, are herein reported. A systematic and manual search of the literature using the keyword "fetal lung interstitial tumor" was conducted on PUBMED, Scopus, and SCIE (Web of Science). Following the PRISMA guidelines, 12 articles were retrieved which describe a total of 21 cases of FLIT, and a new European case is presented. A prenatal diagnosis was reported in only 3 out of 22 (13%) cases. The mean age at surgery was 31 days of life (1-150); a lobectomy was performed in most of the cases. No complications or recurrence of disease were reported at a mean follow-up of 49 months. FLIT is rarely diagnosed during pregnancy, may present at birth with different levels of respiratory distress, and requires prompt surgical resection. Histology and immunohistochemistry allow for the differentiation of FLIT from cPAM and other lung tumors with poor prognosis, such as pleuropulmonary blastoma, congenital peri-bronchial myofibroblastic tumor, inflammatory myofibroblastic tumor, and congenital or infantile fibrosarcoma.
PubMed: 37238376
DOI: 10.3390/children10050828 -
Maternal Health, Neonatology and... May 2023
PubMed: 37231499
DOI: 10.1186/s40748-023-00161-5 -
Annals of Medicine and Surgery (2012) May 2023Pleuropulmonary blastoma (PPB) is a very rare, aggressive, embryonal pulmonary malignancy that mostly affects children under the age of 5 years. According to the...
Pleuropulmonary blastoma (PPB) is a very rare, aggressive, embryonal pulmonary malignancy that mostly affects children under the age of 5 years. According to the histological features, three subtypes of PPB have been recognized: type I (purely cystic), type II (grossly visible cystic and solid elements), and type III (purely solid). The authors report a case of a 10-month-old male infant with type I PPB, who was clinically misdiagnosed with pneumothorax, that he presented complaining of shortening of breath, fever, and cough. Radiographs of the patient showed right pneumothorax, so he had managed accordingly in another centre without improvement. Then Computed Tomography showed a huge right upper lobe sepated pneumocyst, which was treated surgically and the diagnosis was confirmed by combining the imaging and the histopathological examination as PPB type I. PPB is a relatively rare tumour, and it is important to put PPB with their subtypes within the differential diagnoses of any pulmonary lesion in children below the age of 5 or 6 years, as the early diagnosis will help to give early management. Hence, the patient may have a better outcome.
PubMed: 37229013
DOI: 10.1097/MS9.0000000000000514 -
International Journal of Surgery Case... May 2023Pleuropulmonary blastoma (PPB) is rare, representing 0.3 % of all pediatric cancers. PPB is classified into three subtypes and may progress from type I to types II and...
INTRODUCTION
Pleuropulmonary blastoma (PPB) is rare, representing 0.3 % of all pediatric cancers. PPB is classified into three subtypes and may progress from type I to types II and III, with a worse prognosis. Given its rarity, the diagnosis is frequently challenging.
CASE PRESENTATION
We report an occurrence of PPB in a 3-year-old girl, who presented recurrent pneumopathy. Imaging investigations revealed a large solid lesion in the left hemithorax. Biopsy followed by histological analysis suggested rhabdomyosarcoma. The patient received neoadjuvant chemotherapy before proceeding to complete tumor excision. Surgical exploration revealed that the tumor was primitively related to parietal pleura and lower lobe of left lung. Histopathology of the tumor retained a definitive diagnosis of PPB type II. Postoperative course was uneventful, and a cerebral MRI ruled out brain metastasis. Adjuvant chemotherapy was administered.
DISCUSSION
Clinical expression of PPB is nonspecific and variable. It ranges from a dry cough to respiratory distress. Standard radiography is the first examination to perform and CT is the gold standard for characterization thoracic masses. Surgery and chemotherapy are the pillars of treatment. Indications depend on the tumor type, its extent and its resectability.
CONCLUSION
PPB is an aggressive tumor that occurs only in children. Due to the rarity of PPB, evidence on optimal treatment is still insufficient. Careful follow-up is necessary searching for local recurrence or metastasis.
PubMed: 37119756
DOI: 10.1016/j.ijscr.2023.108261 -
Maternal Health, Neonatology and... Mar 2023Pleuropulmonary blastoma (PPB) is a rare mesenchymal malignancy of the lung and is the most common pulmonary malignancy in infants and children. Cystic PPB, the earliest...
BACKGROUND
Pleuropulmonary blastoma (PPB) is a rare mesenchymal malignancy of the lung and is the most common pulmonary malignancy in infants and children. Cystic PPB, the earliest form of PPB occurring from birth to approximately two years of age, is often mistaken for a congenital pulmonary airway malformation, as the two entities can be difficult to distinguish on imaging and pathology. Diagnosis of PPB should prompt workup for DICER1 syndrome, an autosomal dominant tumor predisposition syndrome. We report a newborn with a congenital PPB presenting with tachypnea and hypoxia, who was found to have variant of uncertain clinical significance (VUS) in DICER1.
CASE PRESENTATION
A term female infant developed respiratory distress shortly after birth. Initial imaging was concerning for a congenital pulmonary airway malformation versus congenital diaphragmatic hernia, and she was transferred to a quaternary neonatal intensive care unit for management and workup. Chest CT angiography demonstrated a macrocytic multicystic lesion within the right lower lobe without systemic arterial supply. The pediatric surgery team was consulted, and the neonate underwent right lower lobectomy. Pathology revealed a type I PPB. Oncology and genetics consultants recommended observation without chemotherapy and single gene sequencing of DICER1, which identified a germline VUS in DICER1 predicted to alter splicing. RNA-sequencing from blood demonstrated that the variant resulted in an in-frame deletion of 29 amino acids in a majority of transcripts from the affected allele. Due to the patient's young age at presentation and high clinical suspicion for DICER1 syndrome, tumor surveillance was initiated. Renal and pelvic ultrasonography were unremarkable.
CONCLUSION
We present the case of a term neonate with respiratory distress and cystic lung mass, found to have a type I PPB with a germline VUS in DICER1 that likely increased her risk of DICER1-related tumors. Nearly 70% of patients with PPB demonstrate germline mutations in DICER1. Review of RNA sequencing data demonstrates the difficulty in classifying splice variants such as this. Penetrance is low, and many patients with pathogenic DICER1 variants do not develop a malignancy. Best practice surgical and oncologic recommendations include an individualized approach and tumor board discussion. This case highlights the importance of a multidisciplinary team approach and the utility of international registries for patients with rare diagnoses.
PubMed: 36922881
DOI: 10.1186/s40748-023-00148-2 -
Journal of Clinical Medicine Feb 2023Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There... (Review)
Review
Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There is age-associated progression through a distinctive sequence of pathologic changes, from a purely multicystic lesion type I to a high-grade sarcoma type II and III. While complete resection is the cornerstone treatment for type I PPB, aggressive chemotherapy with a less favorable prognosis is associated with type II and III. DICER1 germline mutation is positive in 70% of children with PPB. Diagnosis is challenging, as it resembles congenital pulmonary airway malformation (CPAM) in imaging. Although PPB is an extremely rare malignancy, over the past five years we have encountered several children diagnosed with PPB in our medical center. Herein, we present some of these children and discuss diagnostic, ethical, and therapeutic challenges.
PubMed: 36902703
DOI: 10.3390/jcm12051918 -
Pediatric Pulmonology May 2023
Topics: Humans; Infant; Pulmonary Blastoma; Lung Neoplasms; Bronchiolitis
PubMed: 36799061
DOI: 10.1002/ppul.26363