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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 -
Journal of the Formosan Medical... Nov 2022The purpose of this study is to compare the clinical characteristics and surgical outcomes of thoracotomy and video-assisted thoracoscopic surgery (VATS) in children...
BACKGROUND
The purpose of this study is to compare the clinical characteristics and surgical outcomes of thoracotomy and video-assisted thoracoscopic surgery (VATS) in children with congenital lung malformations (CLMs) in a tertiary referring center and to report our modified biportal VATS setting.
METHODS
This is a single-center retrospective chart review study including children who underwent surgical resection for CLMs between January 2007 and December 2020. Patient characteristics and surgical outcomes were compared between open and thoracoscopy, as well as conventional VATS and biportal VATS. Biportal setting included an anterior utility wound and a camera trocar wound with one-lung ventilation.
RESULTS
A total of 100 patients were identified. Twenty patients received thoracotomy, and 80 patients received VATS (67 conventional and 13 biportal VATS). The median age at operation was 0.4 months in the thoracotomy group and 4.7 months in the VATS group. More patients in the thoracotomy group had preoperative symptoms, comorbidities, and emergent operations. The patients who underwent thoracotomy had significantly longer postoperative ICU stays, chest tube durations, hospital stays, and more complications. The pathological analysis revealed 67 congenital pulmonary airway malformations, 27 pulmonary sequestration, 6 hybrid lesions, and one accompanying pleuropulmonary blastoma. Compared to conventional VATS, the ICU stay was shorter in the biportal VATS group, with comparable operative durations, hospital stay and complications.
CONCLUSION
VATS for CLMs is associated with better postoperative recovery and fewer complications. Biportal VATS is also a safe and feasible approach.
Topics: Child; Humans; Length of Stay; Lung; Lung Diseases; Lung Neoplasms; One-Lung Ventilation; Pneumonectomy; Postoperative Complications; Retrospective Studies; Thoracic Surgery, Video-Assisted; Thoracotomy; Treatment Outcome
PubMed: 35331621
DOI: 10.1016/j.jfma.2022.03.003 -
The Journal of Pathology. Clinical... May 2022DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. Many of the associated benign and malignant...
DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. Many of the associated benign and malignant lesions occur almost exclusively in DICER1 syndrome. One such tumour, pituitary blastoma (pitB), overexpresses PRAME 500x above control levels. PRAME (PReferentially expressed Antigen in MElanoma) is expressed in malignancies that are not DICER1-related (e.g. melanoma). To address whether PRAME expression is part of the DICER1 phenotype, or simply a feature of pitB, a series of 75 DICER1-mutated specimens and 33 non-mutated specimens was surveyed using immunohistochemistry for PRAME, together with EZH2, which complexes with PRAME. In DICER1-mutated specimens, positive staining for PRAME was only seen in malignant tumours; 7 of 11 histological types and 34/62 individual tumours were positive, while non-tumourous lesions were always negative. Pleuropulmonary blastoma (PPB) showed a continuum in staining, with type I lesions being PRAME negative (n = 7) but all type II and type III lesions PRAME positive (n = 7). Similarly, cystic nephroma (CN) was negative (n = 8), with anaplastic sarcoma of the kidney being positive (n = 2). However, one atypical CN with mesenchymal cell proliferation was PRAME-positive. Embryonal rhabdomyosarcoma (RMS) with DICER1 pathogenic variants (PVs) was positive for PRAME (5/6), but the same tumour type without DICER1 PVs was also positive (9/15). Staining for EZH2 corresponded to that seen with PRAME, validating the latter. This study leads us to conclude that (1) PRAME expression occurs in two-thirds of DICER1-related malignancies; (2) PRAME may be a marker for the progression that certain DICER1-related lesions are thought to undergo, such as PPB and CN; and (3) PRAME expression in some tumours, such as RMS, appears to be an intrinsic feature of the tumour, rather than specifically related to DICER1 PVs. Therapy directed against PRAME may offer novel treatment options in patients with the DICER1 syndrome.
Topics: Antigens, Neoplasm; DEAD-box RNA Helicases; Humans; Kidney Neoplasms; Neoplastic Syndromes, Hereditary; Phenotype; Pulmonary Blastoma; Ribonuclease III; Sarcoma
PubMed: 35297207
DOI: 10.1002/cjp2.264 -
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 -
Cureus Jan 2022Rhabdomyosarcoma (RMS) is a rare soft tissue tumor originating from skeletal muscle that is mostly reported in children. The most common sites of involvement are the...
Rhabdomyosarcoma (RMS) is a rare soft tissue tumor originating from skeletal muscle that is mostly reported in children. The most common sites of involvement are the head, neck, and extremities. The 2020 WHO classification divide RMS into four types: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Reports of RMS with primary lung origin are rare. We present a case of RMS in a 16-month-old boy who presented with a lung mass and microscopic examination with fluorescence in situ hybridization confirmed the diagnosis of alveolar RMS. In conclusion, RMS should be considered in the differential diagnosis of any lung mass with small round blue cell morphology in the microscopic evaluation and should be distinguished from metastatic RMS of other sites, pleuropulmonary blastoma, lymphoma, neuroblastoma, primitive neuroectodermal tumor (PNET)/EWING, and malignant peripheral nerve sheet tumors (MPNST).
PubMed: 35178324
DOI: 10.7759/cureus.21270 -
Cureus Dec 2021Pleuropulmonary blastoma (PPB) is a rare pediatric cancer, and although there have been improvements in its treatment approach, recurrences retain a very poor prognosis....
Pleuropulmonary blastoma (PPB) is a rare pediatric cancer, and although there have been improvements in its treatment approach, recurrences retain a very poor prognosis. Here, we report a case of a 30-month-old female who survived recurrent PPB after undergoing surgery, adjuvant chemotherapy, intrapleural cisplatin infusion, and targeted therapy through whole exome sequencing (WES). Intrapleural cisplatin infusion and target therapy appear to be safe and can be considered in a multimodal approach for the management of recurrent PPB.
PubMed: 35103161
DOI: 10.7759/cureus.20584 -
BJR Case Reports Jul 2021Pleuropulmonary blastoma (PPB) is a rare malignant intrathoracic mesenchymal tumour with a variable aggressiveness. It is the most common primary malignancy in the lung...
Pleuropulmonary blastoma (PPB) is a rare malignant intrathoracic mesenchymal tumour with a variable aggressiveness. It is the most common primary malignancy in the lung during childhood. In this study, we present a case of a 3-year-old male child who complained of persistent dry cough. Radiographs suggested the diagnosis of PPB, which was been confirmed by the histo-pathological examination of a biopsy taken from the tumour under CT guidance. This case was reported to emphasise the importance of radiology, whether diagnotic or interventional, in diagnosing rare cases such as PPB.
PubMed: 35047198
DOI: 10.1259/bjrcr.20200206 -
Pediatric Blood & Cancer Mar 2022Extrapulmonary DICER1-associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report three children with intracranial...
Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.
Extrapulmonary DICER1-associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report three children with intracranial and genital tract sarcomas, suspected to have DS based on a heterogeneous yet defining combination of spindle-cell sarcomatous and blastemal morphology, with rhabdomyomatous differentiation. Foci of immature cartilage at diagnosis (n = 2/3) and increased neuroepithelial differentiation at recurrence (n = 1) were noted. Morphological suspicion prompted somatic testing at reference centers, confirming likely biallelic, loss-of-function, and "hotspot" missense DICER1 variants in all three tumors. This can serve as a model for this diagnosis in resource-limited settings and has implications for germline testing, surveillance, and tumor management.
Topics: Child; DEAD-box RNA Helicases; Developing Countries; Germ-Line Mutation; Humans; Pulmonary Blastoma; Ribonuclease III; Sarcoma; Soft Tissue Neoplasms
PubMed: 34913555
DOI: 10.1002/pbc.29466 -
Modern Pathology : An Official Journal... May 2022This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially...
This report documents a unique multicystic neoplasm of the liver in an 8-month-old boy with a heterozygous germline pathogenic DICER1 variant. This neoplasm, initially considered most likely a mesenchymal hamartoma based on imaging, demonstrated the characteristic histologic pattern of embryonal rhabdomyosarcoma residing in the subepithelial or cambium layer-like zone of the epithelial-lined cysts. Thus, although the differential diagnosis includes mesenchymal hamartoma, a young child with a multicystic mass lesion in the liver, lung, or kidney should both raise the possibility of a germline pathogenic DICER1 variant and also not be mistaken for one of the other hepatic neoplasms of childhood.
Topics: Child; DEAD-box RNA Helicases; Hamartoma; Humans; Infant; Liver Neoplasms; Lung Neoplasms; Male; Pulmonary Blastoma; Ribonuclease III
PubMed: 34907324
DOI: 10.1038/s41379-021-00947-y -
Pediatric Neurosurgery 2022Low-grade neuroepithelial tumors are a heterogeneous group of central nervous system tumors that are generally indolent in nature but in rare instances can progress to...
INTRODUCTION
Low-grade neuroepithelial tumors are a heterogeneous group of central nervous system tumors that are generally indolent in nature but in rare instances can progress to include leptomeningeal dissemination.
CASE PRESENTATION
We present a case of a patient with a low-grade neuroepithelial tumor of indeterminate type with symptomatic leptomeningeal dissemination despite 3 chemotherapy regimens and radiotherapy. Somatic targetable mutation testing showed an FGFR1_TACC1 fusion. Therapy with pazopanib/topotecan was initiated, and disease stabilization was achieved. He received pazopanib/topotecan for a total of 2 years and is now >2 years from completion of treatment and continues to do well with no evidence of disease.
DISCUSSION
This case highlights the utility of targetable mutation testing in therapeutic decision-making and the novel use of systemic pazopanib/topotecan therapy for refractory low-grade neuroepithelial tumor within the context of this clinical situation and specific mutation profile.
Topics: Fetal Proteins; Humans; Indazoles; Male; Microtubule-Associated Proteins; Neoplasms, Neuroepithelial; Nuclear Proteins; Pyrimidines; Receptor, Fibroblast Growth Factor, Type 1; Sulfonamides; Topotecan
PubMed: 34749374
DOI: 10.1159/000519889