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Clinical Cancer Research : An Official... May 2018Pathogenic germline variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for... (Review)
Review
Pathogenic germline variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma, and brain tumors including pineoblastoma and pituitary blastoma. In May 2016, the International PPB Registry convened the inaugural International Symposium to develop consensus testing and surveillance and treatment recommendations. Attendees from North America, Europe, and Russia provided expert representation from the disciplines of pediatric oncology, endocrinology, genetics, genetic counseling, radiology, pediatric surgery, pathology, and clinical research. Recommendations are provided for genetic testing; prenatal management; and surveillance for -associated pulmonary, renal, gynecologic, thyroid, ophthalmologic, otolaryngologic, and central nervous system tumors and gastrointestinal polyps. Risk for most -associated neoplasms is highest in early childhood and decreases in adulthood. Individual and caregiver education and judicious imaging-based surveillance are the primary recommended approaches. These testing and surveillance recommendations reflect a consensus of expert opinion and current literature. As research expands, guidelines for screening and treatment will continue to be updated. .
Topics: Algorithms; DEAD-box RNA Helicases; Disease Management; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Genotype; Global Health; Humans; Inheritance Patterns; Mass Screening; Mutation; Neoplastic Syndromes, Hereditary; Penetrance; Prenatal Diagnosis; Prevalence; Public Health Surveillance; Ribonuclease III; Risk Assessment
PubMed: 29343557
DOI: 10.1158/1078-0432.CCR-17-3089 -
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern Pathology : An Official Journal... Jan 2022DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common... (Review)
Review
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4-5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.
Topics: Causality; Germ-Line Mutation; Humans; Lung Neoplasms; Pleural Neoplasms; Pulmonary Blastoma; Ribonuclease III; Syndrome
PubMed: 34599283
DOI: 10.1038/s41379-021-00905-8 -
Journal of Clinical Pathology Jul 1968A case of pulmonary blastoma is described in a man dying at the age of 50 from hepatic and cerebral metastases. Eleven previously reported cases are reviewed and the...
A case of pulmonary blastoma is described in a man dying at the age of 50 from hepatic and cerebral metastases. Eleven previously reported cases are reviewed and the histogenesis is discussed. It is concluded that these rare tumours are a distinct form of pulmonary carcinosarcoma in which the epithelial element is an adenocarcinoma. It is this that gives it its characteristic and probably coincidental histological resemblance to foetal lung and the evidence for a blastomatous origin is regarded as insufficient.
Topics: Adenocarcinoma; Brain Neoplasms; Carcinosarcoma; Humans; Liver Neoplasms; Lung Neoplasms; Male; Middle Aged; Neoplasm Metastasis
PubMed: 5697348
DOI: 10.1136/jcp.21.4.480 -
Canadian Medical Association Journal Jan 1970A case of rapidly growing solitary tumour of the right upper lobe of the lung in a 72-year-old man is presented. It shows the typical histological appearance of a...
A case of rapidly growing solitary tumour of the right upper lobe of the lung in a 72-year-old man is presented. It shows the typical histological appearance of a pulmonary blastoma. Only 13 cases were published previously, none from Canada. It is a matter of opinion whether pulmonary blastoma should be classified as a separate entity or as a distinct form of carcinosarcoma.
Topics: Aged; Autopsy; Humans; Lung Neoplasms; Male
PubMed: 5411455
DOI: No ID Found -
Journal of Clinical Medicine Feb 2023Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There... (Review)
Review
Pleuropulmonary blastoma (PPB) is a tumor occurring almost exclusively in infants and young children. This is the most common primary-lung malignancy in childhood. There is age-associated progression through a distinctive sequence of pathologic changes, from a purely multicystic lesion type I to a high-grade sarcoma type II and III. While complete resection is the cornerstone treatment for type I PPB, aggressive chemotherapy with a less favorable prognosis is associated with type II and III. DICER1 germline mutation is positive in 70% of children with PPB. Diagnosis is challenging, as it resembles congenital pulmonary airway malformation (CPAM) in imaging. Although PPB is an extremely rare malignancy, over the past five years we have encountered several children diagnosed with PPB in our medical center. Herein, we present some of these children and discuss diagnostic, ethical, and therapeutic challenges.
PubMed: 36902703
DOI: 10.3390/jcm12051918 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2024Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor,... (Review)
Review
Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor, hamartoma, primary pulmonary paraganglioma, carcinoid tumor, mucoepidermoid carcinoma, pleuropulmonary blastoma, adenocarcinoma, squamous cell carcinoma, and sarcomas. Nonspecific clinical and radiological findings result in late and incorrect diagnoses. Although surgical resection is the initial and proper treatment method, additional adjuvant therapy is dependent on both tumor stage and histopathologic type.
PubMed: 38584790
DOI: 10.5606/tgkdc.dergisi.2024.25863 -
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 -
Thorax Apr 1976Pulmonary blastoma is now accepted as a distinctive neoplasm. It remains rare, and only 28 cases have been reliably recorded. A further two cases are now reported, and...
Pulmonary blastoma is now accepted as a distinctive neoplasm. It remains rare, and only 28 cases have been reliably recorded. A further two cases are now reported, and the previous literature is reviewed. There are no specific clinical or radiological features of pulmonary blastoma. The presentation can be that of any other pulmonary tumour although a peripheral situation is usual and a large size is often attained before detection. Pulmonary blastoma is a mixed tumour with malignant epithelial and connective tissue components with a distinctive resemblance to fetal lung. The treatment of choice is surgical excision but the overall prognosis is poor. It is doubtful whether the tumour has a true blastomatous origin.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Female; Humans; Infant; Lung Neoplasms; Male; Middle Aged; Prognosis; Radiography; Teratoma
PubMed: 941110
DOI: 10.1136/thx.31.2.197