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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 -
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 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 -
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 -
Pediatrics Apr 2021Pediatric lung lesions are a group of mostly benign pulmonary anomalies with a broad spectrum of clinical disease and histopathology. Our objective was to evaluate the...
BACKGROUND
Pediatric lung lesions are a group of mostly benign pulmonary anomalies with a broad spectrum of clinical disease and histopathology. Our objective was to evaluate the characteristics of children undergoing resection of a primary lung lesion and to identify preoperative risk factors for malignancy.
METHODS
A retrospective cohort study was conducted by using an operative database of 521 primary lung lesions managed at 11 children's hospitals in the United States. Multivariable logistic regression was used to examine the relationship between preoperative characteristics and risk of malignancy, including pleuropulmonary blastoma (PPB).
RESULTS
None of the 344 prenatally diagnosed lesions had malignant pathology ( < .0001). Among 177 children without a history of prenatal detection, 15 (8.7%) were classified as having a malignant tumor (type 1 PPB, = 11; other PPB, = 3; adenocarcinoma, = 1) at a median age of 20.7 months (interquartile range, 7.9-58.1). Malignancy was associated with the DICER1 mutation in 8 (57%) PPB cases. No malignant lesion had a systemic feeding vessel ( = .0427). The sensitivity of preoperative chest computed tomography (CT) for detecting malignant pathology was 33.3% (95% confidence interval [CI]: 15.2-58.3). Multivariable logistic regression revealed that increased suspicion of malignancy by CT and bilateral disease were significant predictors of malignant pathology (odds ratios of 42.15 [95% CI, 7.43-340.3; < .0001] and 42.03 [95% CI, 3.51-995.6; = .0041], respectively).
CONCLUSIONS
In pediatric lung masses initially diagnosed after birth, the risk of PPB approached 10%. These results strongly caution against routine nonoperative management in this patient population. DICER1 testing may be helpful given the poor sensitivity of CT for identifying malignant pathology.
Topics: Child, Preschool; Cohort Studies; DEAD-box RNA Helicases; Female; Humans; Infant; Infant, Newborn; Length of Stay; Lung Neoplasms; Mutation; Neoplasm Metastasis; Pregnancy; Prenatal Diagnosis; Pulmonary Blastoma; Respiratory Distress Syndrome, Newborn; Retrospective Studies; Ribonuclease III; Tomography, X-Ray Computed
PubMed: 33762310
DOI: 10.1542/peds.2020-028357 -
Journal of the Indian Medical... Feb 2013Pleuropulmonary blastoma is a rare and aggressive malignant tumour that affects young children. A case of pleuropulmonary blastoma has been presented in a 9-year-old...
Pleuropulmonary blastoma is a rare and aggressive malignant tumour that affects young children. A case of pleuropulmonary blastoma has been presented in a 9-year-old male child who was initially diagnosed and treated as pulmonary tuberculosis. Computed tomography of chest revealed a large heterogeneously enhancing mass with calcification in left hemithorax and left pleural effusion. The mass was seen to invade mediastinum and left hemidiaphragm. Thoracotomy revealed unresectable tumour involving both lobes of left lung with invasion of mediastinum and left hemidiaphragm. Biopsy confirmed type II pleuropulmonary blastoma and the child was treated with chemotherapy and radiotherapy.
Topics: Child; Combined Modality Therapy; Diagnosis, Differential; Humans; Lung Neoplasms; Male; Neoplasm Invasiveness; Pulmonary Blastoma; Thoracotomy; Tomography, X-Ray Computed
PubMed: 24003574
DOI: No ID Found -
Journal of Pediatric Oncology Nursing :... 2008Pleuropulmonary blastoma (PPB) is a dysontogenetic neoplasm of childhood that involves lung and/or pleura. There is an increased incidence of neoplasias and dysplasias...
Pleuropulmonary blastoma (PPB) is a dysontogenetic neoplasm of childhood that involves lung and/or pleura. There is an increased incidence of neoplasias and dysplasias among young relatives of children with PPB. Pathophysiologically, PPB evolves from a cystic to solid state over time. It is subclassified as type I (purely cystic), type II (both cystic and solid elements), and type III (completely solid). Type II and type III may be associated with metastasis, with the brain being the most common metastatic site. The absence of epithelial malignancy in PPB is a feature that distinguishes it from the adult-type pulmonary blastoma. The clinical presentation includes signs and symptoms associated with various respiratory disorders. To make a definitive diagnosis of PPB, an examination of the cystic fluid or solid tumor is required. Treatment for PPB consists primarily of surgery and chemotherapy. Nursing care is directed toward maintaining normal respiratory and neurological function, maintaining normal fluid and electrolyte balance, minimizing side effects associated with treatment, and providing education for the family.
Topics: Child, Preschool; Education, Continuing; Female; Humans; Lung Neoplasms; Pleural Neoplasms; Prognosis; Pulmonary Blastoma; Tomography, X-Ray Computed
PubMed: 18780898
DOI: 10.1177/1043454208323292