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Radiology Aug 2023A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline mutation was being monitored by physicians at a multidisciplinary...
A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline mutation was being monitored by physicians at a multidisciplinary genetic predisposition clinic. He demonstrated no evidence of recurrent pleuropulmonary blastoma, and his renal US, chest radiographic, and ocular screening examination results remained normal. Per age-directed screening guidelines, he underwent thyroid US (Figs 1-3). He had no signs or symptoms of hyper- or hypothyroidism. Physical examination was notable for the absence of thyromegaly or palpable nodule. US at 12-month follow-up showed no change in size or appearance of the left lobe (not shown). However, at this time, the Thyroid Imaging Reporting and Data System (TI-RADS) classification scheme was applied to the stable left lobe finding. The findings were discussed at a multidisciplinary thyroid nodule conference, and the decision was made to bring the patient back for a short-term follow-up for limited unenhanced MRI without sedation (Fig 4). A diagnosis was made based on the follow-up imaging findings.
Topics: Male; Humans; Child; Eye; Face; Genetic Predisposition to Disease; Germ-Line Mutation; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 37642568
DOI: 10.1148/radiol.222364 -
Pediatric Blood & Cancer Nov 2023Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Given the rarity of PPB, the role of positron emission tomography...
Assessing the role of positron emission tomography and bone scintigraphy in imaging of pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.
BACKGROUND
Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Given the rarity of PPB, the role of positron emission tomography (PET) and bone scintigraphy (bone scans) in diagnostic evaluation and surveillance has not been documented to date. Available PET and bone scan data are presented in this study.
PROCEDURES
Patients with PPB enrolled in the International PPB/DICER1 Registry and available PET imaging and/or bone scan reports were retrospectively abstracted.
RESULTS
On retrospective analysis, 133 patients with type II and III (advanced) PPB were identified with available report(s) (PET scan only = 34, bone scan only = 83, and both bone scan and PET = 16). All advanced primary PPB (n = 11) and recurrent (n = 8) tumors prior to treatment presented with F-fluorodeoxyglucose (FDG)-avid lesions, with median maximum standardized uptake values of 7.4 and 6.7, respectively. False positive FDG uptake in the thorax was noted during surveillance (specificity: 59%). Bone metastases were FDG-avid prior to treatment. Central nervous system metastases were not discernable on PET imaging. Sensitivity and specificity of bone scans for metastatic bone disease were 89% and 92%, respectively. Bone scans had a negative predictive value of 99%, although positive predictive value was 53%. Four patients with distant bone metastases had concordant true positive bone scan and PET.
CONCLUSION
Primary, recurrent, and/or extracranial metastatic PPB presents with an FDG-avid lesion on PET imaging. Additional prospective studies are needed to fully assess the utility of nuclear medicine imaging in surveillance for patients with advanced PPB.
Topics: Humans; Child, Preschool; Retrospective Studies; Fluorodeoxyglucose F18; Positron-Emission Tomography; Radionuclide Imaging; Sensitivity and Specificity; Bone Neoplasms; Registries; Radiopharmaceuticals; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 37592371
DOI: 10.1002/pbc.30628 -
Radiology Case Reports Oct 2023Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation characterized by failure of bronchial development and localized glandular...
Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation characterized by failure of bronchial development and localized glandular overgrowth. Previously known as Congenital Cystic Adenoid Malformation (CCAM), CPAM is classified into 5 types, from type 0 to type IV, depending upon the origin of pulmonary areas of the lung, cyst size, and cyst appearance. CPAM is a rare congenital anomaly typically diagnosed prenatally in ultrasound. However, few cases are diagnosed in childhood and even fewer in adulthood. CPAM can be differentiated from pulmonary sequestration based on the origin of the arterial supply; the former has its arterial supply from the pulmonary artery, whereas pulmonary sequestration has its arterial supply from the systemic circulation. Another differential diagnosis of CPAM includes congenital bronchogenic cyst, congenital lobar emphysema, pleuropulmonary blastoma, congenital cystic bronchiectasis, and congenital diaphragmatic hernia. The most common presentation is recurrent chest infection and chest pain, whereas other presentation includes pneumothorax and hemoptysis. Here, we present a case of a 6-year-old child with recurrent episodes of fever and cough diagnosed as a type II CPAM based on computed tomography findings.
PubMed: 37539443
DOI: 10.1016/j.radcr.2023.07.018 -
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 -
Pediatric Blood & Cancer Sep 2023The Children's Oncology Group (COG) Rare Tumor Committee includes the Infrequent Tumor and Retinoblastoma subcommittees, encompassing a wide range of extracranial solid...
The Children's Oncology Group (COG) Rare Tumor Committee includes the Infrequent Tumor and Retinoblastoma subcommittees, encompassing a wide range of extracranial solid tumors that do not fall within another COG disease committee. Current therapeutic trial development focuses on nasopharyngeal carcinoma, adrenocortical carcinoma, pleuropulmonary blastoma, colorectal carcinoma, melanoma, and thyroid carcinoma. Given the rarity of these tumors, novel strategies and international collaborative efforts are necessary to advance research and improve outcomes.
Topics: Child; Humans; Medical Oncology; Thyroid Neoplasms; Adrenal Cortex Neoplasms; Nasopharyngeal Neoplasms; Retinal Neoplasms
PubMed: 37458616
DOI: 10.1002/pbc.30574 -
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 -
Pediatric and Developmental Pathology :... 2023Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformation (CPAM), formerly congenital cystic... (Review)
Review
Congenital cystic pulmonary lesions (CCPLs) are represented by the following entities: congenital pulmonary airway malformation (CPAM), formerly congenital cystic adenomatoid malformation, extra- and intralobar sequestration (EIS), congenital lobar emphysema (overexpansion), and bronchogenic cyst. The developmental model of CPAM histogenesis by Stocker proposed perturbations designated as CPAM type 0 to type 4 without known or specific pathogenetic mechanisms along the airway from the bronchus to the alveolus. This review highlights mutational events either at the somatic level in KRAS (CPAM types 1 and possibly 3) or germline variants in congenital acinar dysplasia, formerly CPAM type 0, and pleuropulmonary blastoma (PPB), type I, formerly CPAM type 4. The potential for overt malignant progression exists in the case of PPB type I and CPAM type 1 in some cases to well-differentiated mucinous adenocarcinoma. On the other hand, CPAM type 2 is an acquired lesion resulting from interruption in lung development secondary to bronchial atresia. The latter is also regarded as the etiology of EIS whose pathologic features are similar, if not identical, to CPAM type 2. These observations have provided important insights into the pathogenetic mechanisms in the development of the CPAMs since the Stocker classification.
Topics: Humans; Cystic Adenomatoid Malformation of Lung, Congenital; Lung; Pulmonary Blastoma; Lung Neoplasms; Respiratory System Abnormalities; Bronchopulmonary Sequestration
PubMed: 37334833
DOI: 10.1177/10935266221146823 -
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