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BMC Cancer Aug 2020Pulmonary blastoma (PB) is a rare lung primary malignancy with poorly understood risk factors and prognosis. We sought to investigate the epidemiologic features and...
BACKGROUND
Pulmonary blastoma (PB) is a rare lung primary malignancy with poorly understood risk factors and prognosis. We sought to investigate the epidemiologic features and long-term outcomes of PB.
METHODS
A population-based cohort study was conducted to quantify the death risk of PB patients. All subjects diagnosed with malignant PB from 1988 to 2016 were screened from the Surveillance, Epidemiology and End Results database. Cox regression model of all-cause death and competing risk analysis of cause-specific death were performed.
RESULTS
We identified 177 PB patients with a median survival of 108 months. The 5 and 10-year survival rate in all PB patients were 58.2 and 48.5%, as well as the 5 and 10-year disease-specific mortality were 33.5 and 38.6%. No sex or race disparities in incidence and prognosis was observed. The death risk of PB was significantly associated with age at diagnosis, clinical stage, histologic subtype and surgery treatment (p<0.01). On multivariable regression analyses, older age, regional stage and no surgery predicted higher risk of both all-cause and disease-specific death in PB patients.
CONCLUSION
We described the epidemiological characteristics of PB and identified its prognostic factors that were independently associated with worse clinical outcome.
Topics: Adolescent; Adult; Age Factors; Aged; Female; Follow-Up Studies; Humans; Incidence; Kaplan-Meier Estimate; Lung; Lung Neoplasms; Male; Middle Aged; Neoplasm Staging; Pneumonectomy; Pulmonary Blastoma; Retrospective Studies; Risk Factors; SEER Program; Survival Rate; Treatment Outcome; United States; Young Adult
PubMed: 32847556
DOI: 10.1186/s12885-020-07323-0 -
Thoracic Cancer Oct 2020Biphasic pulmonary blastoma is a rare but lethal type of lung malignancy with characteristic histology of both epithelial and mesenchymal components. Previously reported...
Biphasic pulmonary blastoma is a rare but lethal type of lung malignancy with characteristic histology of both epithelial and mesenchymal components. Previously reported cases have been limited to presentation at advanced stages, suggesting that the clinical course of the disease is usually aggressive. Here, we report a case of incidental diagnosis of biphasic pulmonary blastoma by imaging surveillance in a patient previously treated for adenocarcinoma of the lung. The patient was diagnosed with stage 1 disease and underwent successful resection. Next-generation sequencing (NGS) revealed a high mutation burden, a finding not previously reported in a patient with biphasic pulmonary blastoma.
Topics: Adenocarcinoma of Lung; Female; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Middle Aged; Neoplasm Staging; Pulmonary Blastoma
PubMed: 32833349
DOI: 10.1111/1759-7714.13629 -
Monaldi Archives For Chest Disease =... Jul 2020Biphasic pulmonary blastoma (BPB) is an extremely rare highly aggressive malignant tumor that arises from fetal lung tissue and has the classical biphasic histology of... (Review)
Review
Biphasic pulmonary blastoma (BPB) is an extremely rare highly aggressive malignant tumor that arises from fetal lung tissue and has the classical biphasic histology of epithelial and mesenchymal components. It is usually seen in adults with a slight male predominance and smokers. Previously grouped along with well-differentiated fetal adenocarcinoma (WDFA), and pleuropulmonary blastoma (PPB), now it is considered a separate variant and grouped under sarcomatoid neoplasms. Symptoms include chest pain, cough, hemoptysis and it is asymptomatic in at least one-third of the cases. A biopsy is essential for diagnosis and surgical excision is the treatment of choice. Prognosis is poor with 5-year survival less than 20% and recurrence occurring within 12 months of surgery. An aggressive multimodality approach is required for its management and active follow up surveillance is needed to look for recurrence.
Topics: Adult; Aftercare; Biopsy; Bronchoscopy; Chest Pain; Cough; Fluorodeoxyglucose F18; Hemoptysis; Humans; Lung Neoplasms; Male; Neoadjuvant Therapy; Neoplasm Staging; Positron Emission Tomography Computed Tomography; Pulmonary Blastoma
PubMed: 32729706
DOI: 10.4081/monaldi.2020.1462 -
Journal of Pediatric Surgery Case... Aug 2020Primary pulmonary malignancies are rare in childhood. The most common, pleuropulmonary blastoma (PPB), has an incidence of 25-50 cases per year in the United States...
Primary pulmonary malignancies are rare in childhood. The most common, pleuropulmonary blastoma (PPB), has an incidence of 25-50 cases per year in the United States (Knight and et al., 2019) [1]. The majority of children are diagnosed with PPB before the age of four years. PPB is divided into subtypes I, Ir (type I-regressed), II, and III, which correlates to the age of diagnosis and patient prognosis [2,3]. Here we report an unusual presentation of PPB in a teen-aged female who presented with a one month history of a non-productive cough.
PubMed: 32699772
DOI: 10.1016/j.epsc.2020.101482 -
Modern Pathology : An Official Journal... Oct 2020Since the original description of pathogenic germline DICER1 variation underlying pleuropulmonary blastoma (PPB), the spectrum of extrapulmonary neoplasms known to be...
Since the original description of pathogenic germline DICER1 variation underlying pleuropulmonary blastoma (PPB), the spectrum of extrapulmonary neoplasms known to be associated with DICER1 has continued to expand and now includes tumors of the ovary, thyroid, kidney, eye, and brain among other sites. This report documents our experience with another manifestation: a primitive sarcoma that resembles PPB and DICER1-associated sarcoma of the kidney. These tumors are distinguished by their unusual location in the peritoneal cavity, associated with visceral and/or parietal mesothelium. A total of seven cases were identified through pathology review in children presenting at a median age of 13 years (range 3-14 years). Primary sites of origin included the fallopian tube (four cases), serosal surface of the colon (one case), and pelvic sidewall (two cases). One case had pathologic features of type I PPB, another type Ir (regressed) PPB, and the remaining five had features of type II or III PPB with a mixed primitive sarcomatous pattern with or without cystic elements. All had a pathogenic DICER1 variation identified in germline and/or tumor DNA. PPB-like peritoneal tumors represent a newly described manifestation of DICER1 pathogenic variation whose pathologic features are also recapitulated in DICER1-related renal sarcoma, cervical embryonal rhabdomyosarcoma, and some Sertoli-Leydig cell tumors with heterologous elements. Tumors arising from the fallopian tube or elsewhere in the abdomen/pelvis, especially those with heterogeneous rhabdomyosarcomatous and/or cartilaginous differentiation, should prompt consideration of germline and tumor DICER1 testing.
Topics: Adolescent; Child; Child, Preschool; DEAD-box RNA Helicases; Female; Humans; Male; Mutation; Peritoneal Neoplasms; Pulmonary Blastoma; Ribonuclease III; Sarcoma
PubMed: 32415267
DOI: 10.1038/s41379-020-0558-4 -
Oncology Letters Jun 2020Pulmonary sarcomatoid carcinoma (PSC) is a group of five rare non-small cell lung cancer subtypes. In the present study, the clinical characteristics and outcomes of...
Pulmonary sarcomatoid carcinoma (PSC) is a group of five rare non-small cell lung cancer subtypes. In the present study, the clinical characteristics and outcomes of patients with PSC registered in the Surveillance, Epidemiology and End Results (SEER) database were investigated. For this purpose, data for patients with PSC (n=1,723) who received their initial diagnosis between 1988 and 2016 were collected from the SEER database. Survival analysis was performed using the Kaplan-Meier curves and the log-rank test. Subsequently, multivariate analyses with the Cox proportional hazards model were used to identify significant independent predictors. A nomogram model was established to predict survival performance using the concordance index (C-index). From the total cohort, patients with pulmonary blastoma demonstrated improved 1-year overall survival (OS) rate compared with other pathological types (P<0.001). The 2-year overall survival rates of the 'only radiotherapy' cohort and the 'no specific treatment' cohort were 9.1 and 5.4% (P<0.001), respectively. Radiotherapy significantly improved the OS rate in stage I-III patients with PSC (P<0.001) when stratified by stage. After matching the propensity scores, the 'surgery combined with radiotherapy' group comprised 156 patients and the 'surgery-only' group had 247 patients (1:1.6). However, no significant differences in prognosis were found between the 2 subgroups (P=0.052). The multivariate Cox analysis demonstrated that older age (≥76 years old), male, unmarried, pathological type, larger tumor size (≥56 mm), later tumor node metastasis stages and treatment modalities were independent prognostic factors. A nomogram model was established to predict the survival of patients with PSC. This model incorporated the seven aforementioned independent prognostic factors (C-index for survival, 0.75; 95% confidence interval, 0.74-0.76). Radiotherapy needs to considered for stage I-III patients with PSC who undergo radiation therapy without surgical resection.
PubMed: 32382345
DOI: 10.3892/ol.2020.11472 -
BMC Cancer Mar 2020This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and...
BACKGROUND
This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and mesenchymal components in this tumor.
METHODS
Three cases of pulmonary blastomatoid carcinosarcoma were enrolled in this study. Clinicopathologic information and prognostic data were retrospectively reviewed. Diagnostic immunohistochemistry was performed. The epithelial and mesenchymal components were microdissected to investigate the genomic profiles by performing capture-based targeted next generation sequencing.
RESULTS
The epithelial components in patient one consisted of low-grade and high-grade fetal lung adenocarcinoma. Low-grade epithelial cells showed nuclear expression of β-catenin and missense mutation of CTNNB1. The epithelial components in another two patients consisted of high-grade fetal lung adenocarcinoma/enteric adenocarcinoma. The epithelial cells showed membrane staining of β-catenin and harbored no mutation of CTNNB1. The mesenchymal components in all three tumors were composed of primitive round/spindle cells without definite differentiation and showed cytoplasmic dot positive of β-catenin and no corresponding mutation. Within a tumor, both components exhibited relatively comparable molecular profile. In patient one, 4 mutations: RB1, FAT3, PTCH1 and LRP1B were shared by both epithelial and mesenchymal components. Epithelial component had additional mutations in BCOR, CTNNB1, CTCF, FAT1 and DICER1. In patient two, 12 mutations were shared. The epithelial component had BRCA2 mutation and the mesenchymal had mutations in CREBBP, ALK, DNMT3A, ASXL2, MYCN and RICTOR. Patient three had 6 shared mutations. The epithelial component had an additional mutation in KAT6A and the mesenchymal had an additional mutation in APC. Collectively, we observed heterogeneity between epithelial and mesenchymal components of the same tumor.
CONCLUSIONS
Blastomatoid carcinosarcoma showed characteristic morphology and immunophenotype. Parallel detection of genetic abnormalities in epithelial and mesenchymal components could provide further evidence for tumor differentiation, molecular targeting and differential diagnosis.
Topics: Adenomatous Polyposis Coli Protein; Adult; Aged; BRCA2 Protein; Biomarkers, Tumor; Carcinosarcoma; Cell Nucleus; Female; Gene Regulatory Networks; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Male; Middle Aged; Mutation; Neoplasm Grading; Pulmonary Blastoma; Retrospective Studies; Sequence Analysis, DNA; beta Catenin
PubMed: 32209061
DOI: 10.1186/s12885-020-06748-x -
Virchows Archiv : An International... Aug 2020As one of the most common target organs for hematogenous spread from diverse cancers, biopsy interpretation of lung tumors is complicated by the challenging question of...
Prominent entrapment of respiratory epithelium in primary and metastatic intrapulmonary non-epithelial neoplasms: a frequent morphological pattern closely mimicking adenofibroma and other biphasic pulmonary lesions.
As one of the most common target organs for hematogenous spread from diverse cancers, biopsy interpretation of lung tumors is complicated by the challenging question of primary versus metastatic and by frequent entrapment of native respiratory glands. Nevertheless, the literature dealing with this issue is surprisingly sparse and no single study has been devoted to this topic. We reviewed 47 surgical lung specimens of non-epithelial neoplasms (38 metastases, mainly from sarcomas and 9 primary lesions) for frequency and pattern of intralesional epithelial entrapment. Respiratory epithelium entrapment was noted in 23/47 (49%) cases (diffuse in 15 and peripheral in 8). Entrapped glands frequently showed prominent regenerative and reactive changes mimicking neoplastic glands. Based on cellularity of the mesenchymal component and the extent, distribution and shape of entrapped respiratory glands, four morphological patterns were recognized: paucicellular sclerosing low-grade neoplasms containing leaflet-like glands indistinguishable from adenofibroma and fibroepithelial hamartomas (n = 11), and biphasic cellular lesions mimicking adenomyoepithelioma (n = 1), biphasic synovial sarcoma (n = 2), and pleuropulmonary blastoma (n = 1). Only a single genuine pulmonary adenofibroma was identified. This study highlights frequent respiratory epithelium entrapment in diverse non-epithelial lung tumors, both primary and metastatic. Recognition of this finding and use of adjunct IHC combined with clinical history should help to avoid misinterpretation as primary pulmonary biphasic neoplasm or as harmless adenofibroma. The vast majority of morphologically defined lung adenofibromas represent adenofibroma-like variants of histogenetically diverse entities so that a diagnosis of adenofibroma should be rendered only very restrictively and then as a diagnosis by exclusion.
Topics: Adenofibroma; Adolescent; Adult; Aged; Biomarkers, Tumor; Diagnosis, Differential; Female; Humans; Lung Neoplasms; Male; Middle Aged; Neoplasm Metastasis; Respiratory Mucosa; Young Adult
PubMed: 32193604
DOI: 10.1007/s00428-020-02796-7 -
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