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Advances in Respiratory Medicine 2021Pulmonary blastoma is a rare malignancy, accounting for less than 0.5% of primary lung tumors. It belongs to the group of pulmonary sarcomatoid carcinomas, and it is... (Review)
Review
INTRODUCTION
Pulmonary blastoma is a rare malignancy, accounting for less than 0.5% of primary lung tumors. It belongs to the group of pulmonary sarcomatoid carcinomas, and it is typically characterized by a biphasic pattern of an epithelial and a mesenchymal component. Only a few hundred cases have been reported worldwide. The aim of this study is to review and critically assess the literature regarding pulmonary blastoma.
MATERIAL AND METHODS
A narrative literature review of PubMed database from the inception of the database up to January 2021, limited to the English language, was conducted, using combinations of the following keywords: "pulmonary blastoma", "biphasic pulmonary blastoma", "sarcomatoid carcinoma".
RESULTS
Pulmonary blastoma is composed of an epithelial and a mesenchymal malignant component. Regarding pathogenesis, the origin of the biphasic cell population remains elusive. Characteristic immunohistochemical stains are supportive of diagnosis.Clinically, the symptomatology is non-specific, while 40% of the cases are asymptomatic. It is diagnosed at a younger agecompared to other types of lung cancer, and it is often non-metastatic at diagnosis allowing for surgical treatment. Data on management and survival are scarce and mainly come from isolated cases. Advances on targeted therapy may provide novel treatment options. Given the rarity of the cases, multicenter collaboration is needed in order to establish therapeutic guidelines.
Topics: Humans; Lung Neoplasms; Neoplasm Staging; Pulmonary Blastoma
PubMed: 34725809
DOI: 10.5603/ARM.a2021.0085 -
Blood Advances Jan 2021Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder. Murine models with the loss of DICER1 in hematopoietic... (Review)
Review
Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder. Murine models with the loss of DICER1 in hematopoietic stem cell progenitors demonstrate hematologic aberrations that include reductions in red and white blood cell counts, hemoglobin volume, and impaired maturation resulting in dysplasia. We investigated whether hematologic abnormalities such as those observed in DICER1-deficient mice were observed in humans with a pathogenic germline variant in DICER1. A natural history study of individuals with germline pathogenic DICER1 variants and family controls conducted through the National Cancer Institute (NCI) evaluated enrollees at the National Institutes of Health Clinical Center during a comprehensive clinical outpatient visit that included collecting routine clinical laboratory studies. These were compared against normative laboratory values and compared between the DICER1 carriers and controls. There were no statistical differences in routine clinical hematology laboratory studies observed in DICER1 carriers and family controls. A review of the medical history of DICER1 carriers showed that none of the individuals in the NCI cohort developed myelodysplastic syndrome or leukemia. Query of the International Pleuropulmonary Blastoma/DICER1 Registry revealed 1 DICER1 carrier who developed a secondary leukemia after treatment of pleuropulmonary blastoma. We found limited evidence that the hematologic abnormalities observed in murine DICER1 models developed in our cohort of DICER1 carriers. In addition, no cases of myelodysplastic syndrome were observed in either the NCI cohort or the International Pleuropulmonary Blastoma/DICER1 Registry; 1 case of presumed secondary leukemia was reported. Abnormalities in hematologic indices should not be solely attributed to DICER1. This trial was registered at www.clinicaltrials.gov as #NCT01247597.
Topics: Animals; DEAD-box RNA Helicases; Germ Cells; Germ-Line Mutation; Hematology; Mice; Neoplasms; Pulmonary Blastoma; Ribonuclease III
PubMed: 33570641
DOI: 10.1182/bloodadvances.2020002651 -
Seminars in Ultrasound, CT, and MR Feb 2022Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary... (Review)
Review
Pleuropulmonary blastomas are rare, potentially aggressive embryonal cancers of the lung parenchyma and pleural surfaces that account for 0.25%-0.5% of primary pulmonary malignancies in children. Pleuropulmonary blastomas are classified as cystic (type I), mixed cystic and solid (type II), and solid (type III). Pleuropulmonary blastoma occurs in the same age group (0-6 years) as other more common solid tumors such as neuroblastoma and Wilms tumor. Differential diagnosis includes metastasis from Wilms tumor and macrocystic congenital pulmonary airway malformation (CPAM). A key pathologic and genetic discriminator is the DICER1 germline mutation found in patients with pleuropulmonary blastoma. Imaging, histopathologic, and clinical data are important to use in conjunction in order to determine the diagnosis and risk stratification of pleuropulmonary blastomas. Survival varies from poor to good, depending on type. However, the spectrum of pleuropulmonary blastoma is insufficiently understood due to the variable presentation of this rare disease. We present a current review of the literature regarding pleuropulmonary blastomas in this article.
Topics: Child; Child, Preschool; Cystic Adenomatoid Malformation of Lung, Congenital; DEAD-box RNA Helicases; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Lung Neoplasms; Multimodal Imaging; Pulmonary Blastoma; Ribonuclease III
PubMed: 35164911
DOI: 10.1053/j.sult.2021.05.007 -
The Journal of International Medical... Jun 2024Pulmonary blastoma (PB) is a rare, highly malignant tumor prone to distant metastasis and recurrence, and the prognosis of these patients is often poor. We report a case... (Review)
Review
Pulmonary blastoma (PB) is a rare, highly malignant tumor prone to distant metastasis and recurrence, and the prognosis of these patients is often poor. We report a case of metastatic PB with a good prognosis with the aim of providing data to support a clinical diagnosis and treatment. In December 2015, a 43-year-old male patient was admitted to our hospital because of a cough and blood-stained sputum. Positron emission-computed tomography showed massive high-density imaging in the lower lobe of the right lung, with a maximum cross-section of 76 × 58 mm. Thoracoscopic-assisted right lower lobectomy with lymph node dissection was performed. After 1 month, computed tomography showed a high possibility of metastasis. The patient then received docetaxel and cisplatin chemotherapy for a total of six courses. After chemotherapy, enhanced computed tomography showed considerable absorption of pleural effusion, and a left lobe pulmonary nodule was not detected. The postoperative pathological diagnosis was PB, and epithelial and mesenchymal differentiation components were observed. The patient continued to visit the hospital regularly for re-examination and imaging examinations. Currently, no signs of recurrence or distant metastasis have been detected.
Topics: Humans; Male; Adult; Pulmonary Blastoma; Lung Neoplasms; Prognosis; Tomography, X-Ray Computed; Positron Emission Tomography Computed Tomography; Cisplatin; Pneumonectomy; Docetaxel
PubMed: 38835107
DOI: 10.1177/03000605241254778 -
Seminars in Diagnostic Pathology Nov 2016Dr. Louis Dehner is an internationally renowned surgical pathologist who has published multiple textbooks and has authored or co-authored nearly 400 original articles in... (Review)
Review
Dr. Louis Dehner is an internationally renowned surgical pathologist who has published multiple textbooks and has authored or co-authored nearly 400 original articles in the medical literature. While many think of him as a pediatric pathologist, he has contributed to the literature across virtually the entire breadth of surgical pathology, and the lung and pleura is no exception. This review will highlight Dr. Dehner׳s contributions to the pulmonary and pleural pathology literature in the areas of infectious disease, medical lung disease and transplant pathology, and a number of neoplasms of the lung and pleura, with the remainder of this manuscript dedicated to the still evolving story of the pleuropulmonary blastoma as the signature contribution of his long and distinguished career.
Topics: History, 20th Century; History, 21st Century; Humans; Lung Diseases; Pathology, Surgical; Pleural Diseases
PubMed: 27838088
DOI: 10.1053/j.semdp.2016.09.001 -
Children (Basel, Switzerland) Jul 2019Pleuropulmonary blastomas (PPB) are pediatric, embryonal cancers of the lung parenchyma and pleural surfaces and are among the most common DICER1-related disorders.... (Review)
Review
Pleuropulmonary blastomas (PPB) are pediatric, embryonal cancers of the lung parenchyma and pleural surfaces and are among the most common DICER1-related disorders. These tumors undergo evolution through several forms, allowing division into types I, Ir, II, and III, with correlates to the age of diagnosis and prognosis. We sought to provide a comprehensive review of the relevant literature describing the characteristics of these tumors and their multidisciplinary treatment, with an emphasis on surgical management. We describe the complementary roles of chemotherapy and surgery in the successful management of this disease. We discuss the timing of surgery and options for surgical approaches. We address the differentiation of PPB from congenital pulmonary airway malformation and the role of DICER1 testing for children with pulmonary cysts.
PubMed: 31349569
DOI: 10.3390/children6080086 -
Surgical Pathology Clinics Dec 2020Pediatric cystic lung lesions have long been a source of confusion for clinicians, radiologists, and pathologists. They encompass a wide spectrum of entities with... (Review)
Review
Pediatric cystic lung lesions have long been a source of confusion for clinicians, radiologists, and pathologists. They encompass a wide spectrum of entities with variable prognostic implications, including congenital lung malformations, pulmonary neoplasms, and hereditary conditions. As our understanding of the developmental and genetic origins of these conditions has evolved, revised nomenclature and classifications have emerged in an attempt to bring clarity to the origin of these lesions and guide clinical management. This review discusses cystic lung lesions and the current understanding of their etiopathogenesis.
Topics: Child; Cysts; Diagnosis, Differential; Humans; Lung; Lung Diseases; Lung Neoplasms; Prognosis
PubMed: 33183725
DOI: 10.1016/j.path.2020.07.002 -
Der Pathologe Jul 2016In comparison with other tumor entities there is no common generally accepted grading system for lung cancer with clearly defined criteria and clinical relevance. In the... (Review)
Review
In comparison with other tumor entities there is no common generally accepted grading system for lung cancer with clearly defined criteria and clinical relevance. In the recent fourth edition of the World Health Organization (WHO) classification from 2015 of tumors of the lungs, pleura, thymus and heart, there is no generally applicable grading for pulmonary adenocarcinomas, squamous cell carcinomas or rarer forms of carcinoma. Since the new IASLC/ATS/ERS classification of adenocarcinomas published in 2011, 5 different subtypes with significantly different prognosis are proposed. This results in an architectural (histologic) grading, which is usually applied to resection specimens. For squamous cell carcinoma the number of different histological subtypes in the new WHO classification was reduced compared to earlier versions but without a common grading system. In recent publications nesting and budding were proposed as the main (histologic) criteria for a grading of squamous cell carcinomas. The grading of neuroendocrine tumors (NET) of the lungs in comparison with NET in other organs is presented in a separate article in this issue. Certain rare tumor types are high grade per definition: small cell, large cell and pleomorphic carcinomas, carcinosarcomas and pulmonary blastomas. In the future it is to be expected that these developments will be further refined, e. g. by adding further subtypes for adenocarcinomas and cytologic and/or nuclear criteria for adenocarcinoma and/or squamous cell carcinomas.
Topics: Adenocarcinoma; Carcinoma, Large Cell; Carcinoma, Small Cell; Carcinoma, Squamous Cell; Carcinosarcoma; Lung; Lung Neoplasms; Neoplasm Grading; Prognosis; Pulmonary Blastoma; World Health Organization
PubMed: 27356985
DOI: 10.1007/s00292-016-0175-7 -
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 -
Lung Cancer (Auckland, N.Z.) 2018Fetal adenocarcinoma of the lung (FLAC) is a rare tumor. It accounts for ~0.1%-0.5% of all pulmonary neoplasms. Due to its rarity, much of the world literature regarding... (Review)
Review
Fetal adenocarcinoma of the lung (FLAC) is a rare tumor. It accounts for ~0.1%-0.5% of all pulmonary neoplasms. Due to its rarity, much of the world literature regarding FLAC comes from case reports and case series. FLAC is an adenocarcinoma resembling developing fetal lung in its pseudoglandular stage (8-16 weeks of gestation). It is distinguishable from pulmonary blastoma (PB) because it lacks the mesenchymal component which is a hallmark finding in PB. Due to differences in histopathology and clinical course, FLAC has been further categorized into low-grade (L-FLAC) and high-grade (H-FLAC) forms. L-FLAC displays low nuclear atypia and prominent morule formation and has a pure pattern. H-FLAC typically presents with at least 50% fetal morphology, and is often associated with other conventional types of lung adenocarcinoma. FLAC expresses neuroendocrine markers and thyroid transcription factor 1 in most cases. L-FLAC has an aberrant nuclear/cytoplasmic expression of β-catenin and presents mutations in this gene. H-FLAC overexpresses p53. These tumors have a very low frequency of mutations in and ; it is thought that they are different from a molecular point of view to conventional lung adenocarcinomas. Approximately 25%-40% of patients are asymptomatic at presentation; most of them are incidental findings on chest radiographs. H-FLAC is more common in elderly male patients, with a heavy smoking history. L-FLAC tends to occur in young females. Patients with L-FLAC are usually diagnosed with stage I-II disease, while patients with H-FLAC usually present with a more advanced-stage disease. Poor prognostic factors for FLAC are thoracic lymphadenopathy, metastases at diagnosis, and tumor recurrence; however, the 10-year survival for FLAC is estimated at 75%.
PubMed: 30197546
DOI: 10.2147/LCTT.S137410