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Medicine Nov 2022Pulmonary blastoma is an extremely rare and highly aggressive tumor. Only a few hundred cases of pulmonary blastoma have been reported. In other cases, a definitive...
RATIONALE
Pulmonary blastoma is an extremely rare and highly aggressive tumor. Only a few hundred cases of pulmonary blastoma have been reported. In other cases, a definitive diagnosis is often made through surgical resection. The use of preoperative histopathological sampling in diagnosing was of limited value because of the variety of pulmonary blastoma histology. And there was no literature that the first biopsy was attempted with medical thoracoscopy for diagnosis.
PATIENT CONCERNS
A 65-year-old man presented to our hospital with pleural effusion and lung mass.
DIAGNOSES
The patient was initially diagnosed with dedifferentiated chondrosarcoma by medical thoracoscopic biopsy but the final diagnosis was pulmonary blastoma through bilobectomy.
INTERVENTIONS
Medical thoracoscopy, and video-assisted thoracoscopic surgery (bilobectomy) followed by adjuvant chemotherapy.
OUTCOMES
After surgical resection of the tumor, adjuvant chemotherapy has been performed 5 cycles at 3 weeks intervals, and there was no evidence of recurrence on follow-up computed tomography performed 4 months after surgery.
LESSONS
Medical thoracoscopy is useful for the diagnosis of indeterminate pleural effusion; however, caution is needed when confirming rare malignancies, such as pulmonary blastoma. Although surgical resection is the treatment of choice, appropriate adjuvant chemotherapy to improve the prognosis may be necessary if there is pleural metastasis.
Topics: Male; Humans; Aged; Pulmonary Blastoma; Thoracic Surgery, Video-Assisted; Pleural Effusion; Lung Neoplasms; Chondrosarcoma
PubMed: 36451398
DOI: 10.1097/MD.0000000000031377 -
Pediatric Blood & Cancer Apr 2023Pleuropulmonary blastoma (PPB) is the most common lung cancer of infancy and early childhood and is associated with germline DICER1 variants. Type I and Ir PPB are...
PURPOSE
Pleuropulmonary blastoma (PPB) is the most common lung cancer of infancy and early childhood and is associated with germline DICER1 variants. Type I and Ir PPB are cystic lesions treated surgically, with a subset of children with type I receiving chemotherapy. Type II and III are more aggressive lesions, treated with surgery, intensive chemotherapy and potentially radiation. We sought to assess health-related quality of life (HRQoL) in children with PPB and known germline DICER1 variants.
METHODS
Children with a diagnosis of PPB or germline DICER1 pathogenic variant without history of PPB or other DICER1-related neoplasm (DICER1+ only) were enrolled in the International PPB/DICER1 Registry. Parent reports for participants aged 2-17 years for the PedsQL v.4 and PedsQL Multidimensional Fatigue Scale v.3 were collected. Fatigue, physical, and psychosocial function scores were compared.
RESULTS
Analysis included 84 participants (PPB type Ir = 20, type I = 15, type II/III = 27, DICER1+ only = 22). Total fatigue scores of participants with type I and II/III PPB were lower compared to DICER1+ only, with effect size larger in type II/III (-0.82 vs. -0.40). Total psychosocial and physical functioning scores were lower in participants with type I and type II/III PPB compared to DICER1+ only, with larger effects noted in type II/III. Female sex was suggestive of worse HRQoL for both type I/Ir and type II/III cohorts.
CONCLUSIONS
These data demonstrate the importance of regular HRQoL assessment in patients with a history of PPB as well as the importance and feasibility of studying HRQoL in children with rare tumors.
Topics: Child; Humans; Child, Preschool; Female; Adolescent; Quality of Life; Pulmonary Blastoma; Lung Neoplasms; Ribonuclease III; Registries; DEAD-box RNA Helicases
PubMed: 36424733
DOI: 10.1002/pbc.30077 -
The Pan African Medical Journal 2022Pleuropulmonary blastoma is a rare intrathoracic tumor in children. It is associated with poor prognosis and diagnosis is based on histological examination. We conducted...
Pleuropulmonary blastoma is a rare intrathoracic tumor in children. It is associated with poor prognosis and diagnosis is based on histological examination. We conducted a didactic study involving a 3-year-old child with severe acute respiratory distress associated with hemothorax; radiological and thoracoscopic examination suggested malignant pleuropulmonary process. Anatomopathological examination with radio-clinical comparison allowed for the diagnosis of solid-cystic pleuropulmonary blastoma type II. Unfortunately, given the severity of the clinical features, the child died within a few weeks due to multiple organ failure. Pathologist experience is very important to recognize the disease and to start adequate treatment as soon as possible. This allows for a tumor regression rate up to 90% after neoadjuvant treatment and a 5-year survival rate of at least 53% for aggressive forms: solid and solido-cystic tumors.
Topics: Humans; Child, Preschool; Lung Neoplasms; Pulmonary Blastoma; Neoadjuvant Therapy; Radiography
PubMed: 36284883
DOI: 10.11604/pamj.2022.43.8.33823 -
Journal of Clinical Oncology : Official... Feb 2023Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Type II and type III PPB have historically been associated with a...
PURPOSE
Pleuropulmonary blastoma (PPB) is the most common primary lung neoplasm of infancy and early childhood. Type II and type III PPB have historically been associated with a poor prognosis.
METHODS
Patients with known or suspected PPB were enrolled in the International PPB/ Registry. Medical records were abstracted with follow-up ascertained annually. All PPB diagnoses were confirmed by central pathology review. Beginning in 2007, the IVADo regimen (ifosfamide, vincristine, actinomycin-D, and doxorubicin) was recommended as a potential treatment regimen for children with type II and type III PPB. This regimen was compared with a historical control cohort.
RESULTS
From 1987 to 2021, 314 children with centrally confirmed type II and type III PPB who received upfront chemotherapy were enrolled; 132 children (75 with type II and 57 with type III) received IVADo chemotherapy. Adjusted analyses suggest improved overall survival for children treated with IVADo in comparison with historical controls with an estimated hazard ratio of 0.65 (95% CI, 0.39 to 1.08). Compared with localized disease, distant metastasis at diagnosis was associated with worse PPB event-free survival and overall survival with hazard ratio of 4.23 (95% CI, 2.42 to 7.38) and 4.69 (95% CI, 2.50 to 8.80), respectively.
CONCLUSION
The use of IVADo in children with type II and type III PPB resulted in similar-to-improved outcomes compared with historical controls. Inferior outcomes with metastatic disease suggest the need for novel therapies. This large cohort of uniformly treated children with advanced PPB serves as a benchmark for future multicenter therapeutic studies for this rare pediatric tumor.
Topics: Child; Humans; DEAD-box RNA Helicases; Doxorubicin; Lung Neoplasms; Pulmonary Blastoma; Registries; Ribonuclease III
PubMed: 36137255
DOI: 10.1200/JCO.21.02925 -
Pediatric Blood & Cancer Jun 2023Pediatric pulmonary malignancy can be primary or metastatic, with the latter being by far the more common. With a few exceptions, there are no well-established...
Pediatric pulmonary malignancy can be primary or metastatic, with the latter being by far the more common. With a few exceptions, there are no well-established evidence-based guidelines for imaging pediatric pulmonary malignancies, although computed tomography (CT) is used in almost all cases. The aim of this article is to provide general imaging guidelines for pediatric pulmonary malignancies, including minimum standards for cross-sectional imaging techniques and specific imaging recommendations for select entities.
Topics: Child; Humans; Pulmonary Blastoma; Surface Plasmon Resonance; Lung Neoplasms; Lung; Tomography, X-Ray Computed
PubMed: 36121877
DOI: 10.1002/pbc.29964 -
Hong Kong Medical Journal = Xianggang... Aug 2022
Topics: Child; Hong Kong; Humans; Lung Neoplasms; Pulmonary Blastoma
PubMed: 35989435
DOI: 10.12809/hkmj219503 -
Radiology Case Reports Sep 2022Pleuropulmonary blastoma (PPB) is among the rarest malignant tumors diagnosed in children. PPBs can be histopathologically classified into 3 types: cystic tumor (type...
Pleuropulmonary blastoma (PPB) is among the rarest malignant tumors diagnosed in children. PPBs can be histopathologically classified into 3 types: cystic tumor (type I), mixed cystic and solid tumor (type II), and pure solid tumor (type III). We describe a case of type III PPB that was detected in a prenatal fetus, confirmed using histopathological methods. To the best of our knowledge, this is the first case describing a type III PPB detected in a fetus. Prenatal ultrasonography is an excellent tool for detecting pulmonary lesions during the diagnostic phase, and the possibility of PPB should be considered when solid tumors are detected. Early detection can allow for the performance of full resection, leading to a better prognosis for this cancerous tumor.
PubMed: 35818452
DOI: 10.1016/j.radcr.2022.06.032 -
Annals of Diagnostic Pathology Oct 2022DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary... (Comparative Study)
Comparative Study
Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically, genetically and epigenetically related - A comparative study of 4 PPBs and 6 sarcomas.
DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary blastomas (PPBs) and 6 sarcomas by mutation analysis, whole transcriptome sequencing and methylation profiling. 9/10 patients were female. PPB patients were 0-4 years. 3/4 were alive; 2 without disease. One patient died of metastatic disease (median follow-up, 16 months). Sarcoma patients were 16-56 years. Locations included: uterine cervix/corpus (3/1), soft tissue back/shoulder (1) and paravertebral (1). 5/6 patients were alive; 2 developed metastases: intracranial (1) and lung and kidney (1) (median follow-up, 17 months). The deceased patient previously had a PPB and a Sertoli-Leydig cell tumor. Histologically, tumors showed atypical primitive-looking cells with incomplete rhabdomyoblastic differentiation and cartilage (n = 5). Immunohistochemistry demonstrated desmin- (n = 9/10), myogenin- (n = 6/10) and keratin positivity (n = 1/1). Eight cases harbored biallelic DICER1 mutations with confirmed germline mutations in 4 cases. Two cases showed a monoallelic mutation. By RNA expression- and methylation profiling, distinct clustering of our cases was seen demonstrating a close relationship on (epi)genetic level and similarities to embryonal rhabdomyosarcoma. In conclusion, this study shows overlapping morphological, immunohistochemical and (epi)genetic features of PPBs and DICER1-associated high-grade sarcomas, arguing that these neoplasms form a spectrum with a broad clinicopathological range.
Topics: Female; Humans; Male; DEAD-box RNA Helicases; Desmin; Keratins; Mutation; Myogenin; Pulmonary Blastoma; Rhabdomyosarcoma, Embryonal; Ribonuclease III; RNA; Soft Tissue Neoplasms
PubMed: 35779311
DOI: 10.1016/j.anndiagpath.2022.152002 -
JAMA Network Open Jun 2022
Topics: Humans; Lung; Pulmonary Blastoma; Radionuclide Imaging; Tomography, X-Ray Computed
PubMed: 35771580
DOI: 10.1001/jamanetworkopen.2022.19826 -
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