-
JAMA Network Open Jun 2022The ability of computed tomography (CT) to distinguish between benign congenital lung malformations and malignant cystic pleuropulmonary blastomas (PPBs) is unclear.
IMPORTANCE
The ability of computed tomography (CT) to distinguish between benign congenital lung malformations and malignant cystic pleuropulmonary blastomas (PPBs) is unclear.
OBJECTIVE
To assess whether chest CT can detect malignant tumors among postnatally detected lung lesions in children.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective multicenter case-control study used a consortium database of 521 pathologically confirmed primary lung lesions from January 1, 2009, through December 31, 2015, to assess diagnostic accuracy. Preoperative CT scans of children with cystic PPB (cases) were selected and age-matched with CT scans from patients with postnatally detected congenital lung malformations (controls). Statistical analysis was performed from January 18 to September 6, 2020. Preoperative CT scans were interpreted independently by 9 experienced pediatric radiologists in a blinded fashion and analyzed from January 24, 2019, to September 6, 2020.
MAIN OUTCOMES AND MEASURES
Accuracy, sensitivity, and specificity of CT in correctly identifying children with malignant tumors.
RESULTS
Among 477 CT scans identified (282 boys [59%]; median age at CT, 3.6 months [IQR, 1.2-7.2 months]; median age at resection, 6.9 months [IQR, 4.2-12.8 months]), 40 cases were extensively reviewed; 9 cases (23%) had pathologically confirmed cystic PPB. The median age at CT was 7.3 months (IQR, 2.9-22.4 months), and median age at resection was 8.7 months (IQR, 5.0-24.4 months). The sensitivity of CT for detecting PPB was 58%, and the specificity was 83%. High suspicion for malignancy correlated with PPB pathology (odds ratio, 13.5; 95% CI, 2.7-67.3; P = .002). There was poor interrater reliability (κ = 0.36 [range, 0.06-0.64]; P < .001) and no significant difference in specific imaging characteristics between PPB and benign cystic lesions. The overall accuracy rate for distinguishing benign vs malignant lesions was 81%.
CONCLUSIONS AND RELEVANCE
This study suggests that chest CT, the current criterion standard imaging modality to assess the lung parenchyma, may not accurately and reliably distinguish PPB from benign congenital lung malformations in children. In any cystic lung lesion without a prenatal diagnosis, operative management to confirm pathologic diagnosis is warranted.
Topics: Case-Control Studies; Child; Female; Humans; Lung; Lung Diseases; Lung Neoplasms; Male; Pregnancy; Pulmonary Blastoma; Reproducibility of Results; Tomography, X-Ray Computed
PubMed: 35771571
DOI: 10.1001/jamanetworkopen.2022.19814 -
Qatar Medical Journal 2022Pleuropulmonary blastoma (PPB) is a rare malignant lung tumor in the pediatric population and occurs mainly in young children. Its clinical presentation is usually...
Pleuropulmonary blastoma (PPB) is a rare malignant lung tumor in the pediatric population and occurs mainly in young children. Its clinical presentation is usually nonspecific. We report a rare occurrence of this tumor in a 15-year-old girl, who presented with symptoms mimicking respiratory tract infection and was nonresponsive to the initial treatment. Imaging investigations revealed a large solid lesion in the left hemithorax with a mass effect on the adjacent structures. Biopsy demonstrated primitive cells with blastematous appearances, and the stroma cells were positive for vimentin and desmin, consistent with PPB. Unfortunately, she died from neutropenic sepsis while undergoing chemotherapy. This report highlights the epidemiology of PPB, its imaging and histopathological features, overview of prognosis, and clinical management.
PubMed: 35291285
DOI: 10.5339/qmj.2022.12 -
Pediatric Pulmonology May 2023
Topics: Humans; Infant; Pulmonary Blastoma; Lung Neoplasms; Bronchiolitis
PubMed: 36799061
DOI: 10.1002/ppul.26363 -
Journal of Pediatric Surgery Jan 2016The management of congenital cystic lung lesions is controversial. Arguments for routine resection during infancy include the possibility of the lesion being Type I...
BACKGROUND
The management of congenital cystic lung lesions is controversial. Arguments for routine resection during infancy include the possibility of the lesion being Type I pleuropulmonary blastoma (PPB) rather than a cystic congenital pulmonary airway malformation (CPAM). We aimed to identify clinical and radiological features that might distinguish between CPAM and PPB and to develop a diagnostic algorithm based on these features.
METHODS
All recorded cases of Type I PPB were retrieved from the International PPB Registry and compared with an institutional cohort of children undergoing resection of CPAM (2002-2013) that was noted at some stage to be at least partially cystic. Regression models were created to identify variables that might differentiate CPAM from PPB. Odds ratio (OR) and positive predictive value (PPV) were calculated for each variable and a decision algorithm developed.
RESULTS
In 112 cases of Type I PPB and 103 of CPAM, factors favoring a diagnosis of CPAM included prenatal detection (OR 89.4), systemic feeding vessel (OR 61.7), asymptomatic (OR 8.0), and hyperinflated lung (OR 6.6). Factors favoring a diagnosis of PPB included bilateral or multisegment involvement (OR 2.4). A decision algorithm that helps to identify lesions requiring resection and those which can be safely observed is presented.
CONCLUSION
Clinical and radiological features can help to differentiate between CPAM and PPB. Our algorithm allows identification of children at higher risk of PPB in whom we would recommend resection and those at low risk in whom continued close observation is safe.
Topics: Algorithms; Child; Child, Preschool; Cystic Adenomatoid Malformation of Lung, Congenital; Decision Support Techniques; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Lung Neoplasms; Male; Odds Ratio; Predictive Value of Tests; Pulmonary Blastoma; Registries; Retrospective Studies
PubMed: 26561249
DOI: 10.1016/j.jpedsurg.2015.10.019 -
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 -
Radiology Case Reports Jul 2021We are presenting a rare case with the simultaneous occurrence of pleuropulmonary blastoma and an intra lobar pulmonary sequestration. Although there have been cases...
We are presenting a rare case with the simultaneous occurrence of pleuropulmonary blastoma and an intra lobar pulmonary sequestration. Although there have been cases reported previously with pleuropulmonary blastoma associated with congenital pulmonary malformations, the association with an intra lobar pulmonary sequestration is very rare. The patient, a female, 6-month-old child arrived at our pediatric service with the clinic of cough, respiratory distress, and fever after being treated for 2 weeks for left lung bronchopneumonia according clinical signs and radiographic description but without clinical improvements. Contrast enhanced CT images showed the simultaneous presence of 2 different lesions in the left lung, a heterogeneous mass in the superior lobe without delineation with mediastinal structure compatible with a pleuropulmonary blastoma and a consolidation in the inferior lobe with bronchogram present and a systemic vessel feeding compatible with an intra lobar pulmonary sequestration, both confirmed by histologic examinations after the surgical intervention. Although it is very rare, the simultaneous presence of these distinct embryogenic lesions may occur and radiologist should be aware as the imaging diagnosis may be very helpful for the further management of the patient.
PubMed: 34007392
DOI: 10.1016/j.radcr.2021.04.040 -
Cancers Jan 2024Mutations in , a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known... (Review)
Review
Mutations in , a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known for its association with pleuropulmonary blastoma, DICER1 syndrome has received more attention due to the association with newly discovered diseases and tumors. Recent studies evaluating mutations and DICER1-driven thyroid disease in both pediatric and adult thyroid nodules revealed thyroid disease as the most common manifestation of mutations. This study undertakes a comprehensive investigation into mutations, focusing on their role in thyroid diseases. Specific attention was given to thyroid follicular nodular disease and differentiated thyroid carcinomas in infancy as highly indicative of germline mutation or DICER1 syndrome. Additionally, poorly differentiated thyroid carcinoma and thyroblastoma were identified as potential indicators of somatic mutations. Recognizing these manifestations should prompt clinicians to expedite genetic evaluation for this neoplastic syndrome and classify these patients as high risk for additional multi-organ malignancies. This study comprehensively synthesizes the current knowledge surrounding this genetically associated entity, providing intricate details on histologic findings to facilitate its diagnosis.
PubMed: 38254836
DOI: 10.3390/cancers16020347 -
Journal of Indian Association of... 2021Pleuropulmonary blastomas (PPBs) are very rare, highly aggressive, dysembryonic neoplasms of thoracopulmonary mesenchyme. These have been reported in the pediatric...
Pleuropulmonary blastomas (PPBs) are very rare, highly aggressive, dysembryonic neoplasms of thoracopulmonary mesenchyme. These have been reported in the pediatric population and account for only 0.5%-1% of all primary malignant lung cancers. They normally arise from lung tissue, however rarely the parietal pleura may be the tissue of origin (extra pulmonary PPB) which are extremely rare. Common age of presentation is three to 4 years. The prognosis is poor with distant metastasis to central nervous system and bone with survival rate of approximately 42.9% at 5 years. They are managed by aggressive multimodal therapies including surgery and chemotherapy. We report a case of a 3-year-old male child with Type 2 PPB of the left hemithorax, managed by surgical excision of the mass and adjuvant chemotherapy.
PubMed: 34728923
DOI: 10.4103/jiaps.JIAPS_159_20 -
Rhinology Online 2020Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with pathogenic germline variation. They can be locally destructive and recurrent if not...
BACKGROUND
Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with pathogenic germline variation. They can be locally destructive and recurrent if not completely resected.
METHODOLOGY
In this single-center, case-control study, otorhinolaryngology evaluations and review of systems questionnaires of -carriers and controls enrolled in the Natural History Study at the National Cancer Institute were collected. Review of these medical records were analyzed to determine if 1-carriers experienced different sinonasal clinical manifestations compared to controls. Additionally, the number of diagnoses of nasal chondromesenchymal hamartoma cases in the NCI study was compared against the total person years of observation of -carriers in the study to determine the total number of cases per person-years of observation. Lastly, both the NCI study and the International Pleuropulmonary Blastoma/ Registry were queried for unpublished cases of nasal chondromesenchymal hamartomas.
RESULTS
There were no clinical differences in sinonasal symptomatology between -carriers and control patients seen in the ENT clinic. We observed of two cases of nasal chondromesenchymal hamartoma in a total of 555 person-years of monitoring -carriers. We include six unpublished nasal chondromesenchymal hamartoma cases. When combined with a comprehensive literature review, 38% of nasal chondromesenchymal hamartoma cases had at least one additional -associated tumor and 24% of the NCMH were found in the ethmoid sinus, the most commonly involved paranasal sinus.
CONCLUSIONS
We quantify the risk of developing nasal chondromesenchymal hamartomas in our cohort of 236 -carriers, report six unpublished cases, and provide an updated review of the literature.
PubMed: 34164613
DOI: 10.4193/rhinol/20.007 -
Virchows Archiv : An International... Sep 2020Congenital pulmonary airway malformation (CPAM) occurs most commonly in infants. It is divided into 5 types. The most common types 1 and 2 are cystic, type 0 presents as...
Congenital pulmonary airway malformation (CPAM) occurs most commonly in infants. It is divided into 5 types. The most common types 1 and 2 are cystic, type 0 presents as bronchial buds without alveolar tissue, most likely corresponding to alveolar dysgenesis, while type 3 is composed of branching bronchioles and appears as a solid lesion. A defect in the epithelial-mesenchymal crosstalk might be the underlying mechanism for all. Type 4 is a peripheral cystic lesion with a thin cyst wall covered by pneumocytes. CPAM 4 has been mixed up with pleuropulmonary blastoma (PPB) type I and some authors question its existence. We investigated five cases of CPAM type 4 for the presence or absence of rhabdomyoblasts, and for markers associated with CPAM development. In addition, all cases were evaluated for mutations within the Dicer gene and for mutations of the RAS family of oncogenes. All five cases showed smooth muscle actin and desmin-positive cells; however, only one case showed a few cells positive for MyoD. The same case showed a mutation of Dicer 1. All cases were negative for mutations of the RAS family of genes. Fibroblast growth factor 10 was similarly expressed in all cases, and thus cannot be used to differentiate CPAM4 from PPB-I. Low expression of the proliferation marker Ki67 was seen in our CPAM 4 cases and the probable PPB-I case. YingYang-1 protein seems to play an active role in the development of PPB-I. CPAM 4 can be separated from PPB-I based on the presence of rhabdomyoblasts and mutations in Dicer 1 gene. These cells might not be numerous; therefore, all available tissue has to be evaluated. As CPAM 4 morphologically looks very similar to PPB-I, it might be speculated, that there exists a potential for progression from CPAM 4 to PPB-I, by acquiring somatic mutations in Dicer 1.
Topics: Adolescent; Biomarkers, Tumor; Cystic Adenomatoid Malformation of Lung, Congenital; DEAD-box RNA Helicases; Diagnosis, Differential; Disease Progression; Female; Genes, ras; Humans; Infant; Lung Neoplasms; Male; Middle Aged; Mutation; Pulmonary Blastoma; Ribonuclease III; Young Adult
PubMed: 32193603
DOI: 10.1007/s00428-020-02789-6