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Pediatric Blood & Cancer Sep 2023The Children's Oncology Group (COG) Rare Tumor Committee includes the Infrequent Tumor and Retinoblastoma subcommittees, encompassing a wide range of extracranial solid...
The Children's Oncology Group (COG) Rare Tumor Committee includes the Infrequent Tumor and Retinoblastoma subcommittees, encompassing a wide range of extracranial solid tumors that do not fall within another COG disease committee. Current therapeutic trial development focuses on nasopharyngeal carcinoma, adrenocortical carcinoma, pleuropulmonary blastoma, colorectal carcinoma, melanoma, and thyroid carcinoma. Given the rarity of these tumors, novel strategies and international collaborative efforts are necessary to advance research and improve outcomes.
Topics: Child; Humans; Medical Oncology; Thyroid Neoplasms; Adrenal Cortex Neoplasms; Nasopharyngeal Neoplasms; Retinal Neoplasms
PubMed: 37458616
DOI: 10.1002/pbc.30574 -
Paediatric Anaesthesia Feb 2022Congenital lung lesions are numerous but rare in individual clinical practice. They do require close multidisciplinary collaboration between health care professionals.... (Review)
Review
Congenital lung lesions are numerous but rare in individual clinical practice. They do require close multidisciplinary collaboration between health care professionals. This educational review will focus on the pathophysiology, clinical manifestations, surgical approaches, and anesthetic management of congenital anomalies of the large intrathoracic airways: congenital tracheal stenosis, tracheal agenesis, tracheal diverticulum, bronchial anomalies (tracheal, esophageal, or bridging bronchus), congenital lung malformations, lung sequestrations and Scimitar syndrome, lobar emphysema, Williams-Campbell syndrome, and pleuropulmonary blastoma. In addition, this review will illustrate common pitfalls and challenges related to the anesthesia management with emphasis on ventilation and correct endotracheal tube positioning.
Topics: Bronchi; Humans; Lung; Lung Diseases; Pulmonary Blastoma; Trachea
PubMed: 34797930
DOI: 10.1111/pan.14339 -
The Journal of Pathology. Clinical... May 2022DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. Many of the associated benign and malignant...
DICER1 syndrome is an autosomal dominant tumour predisposition syndrome usually affecting persons under 30 years of age. Many of the associated benign and malignant lesions occur almost exclusively in DICER1 syndrome. One such tumour, pituitary blastoma (pitB), overexpresses PRAME 500x above control levels. PRAME (PReferentially expressed Antigen in MElanoma) is expressed in malignancies that are not DICER1-related (e.g. melanoma). To address whether PRAME expression is part of the DICER1 phenotype, or simply a feature of pitB, a series of 75 DICER1-mutated specimens and 33 non-mutated specimens was surveyed using immunohistochemistry for PRAME, together with EZH2, which complexes with PRAME. In DICER1-mutated specimens, positive staining for PRAME was only seen in malignant tumours; 7 of 11 histological types and 34/62 individual tumours were positive, while non-tumourous lesions were always negative. Pleuropulmonary blastoma (PPB) showed a continuum in staining, with type I lesions being PRAME negative (n = 7) but all type II and type III lesions PRAME positive (n = 7). Similarly, cystic nephroma (CN) was negative (n = 8), with anaplastic sarcoma of the kidney being positive (n = 2). However, one atypical CN with mesenchymal cell proliferation was PRAME-positive. Embryonal rhabdomyosarcoma (RMS) with DICER1 pathogenic variants (PVs) was positive for PRAME (5/6), but the same tumour type without DICER1 PVs was also positive (9/15). Staining for EZH2 corresponded to that seen with PRAME, validating the latter. This study leads us to conclude that (1) PRAME expression occurs in two-thirds of DICER1-related malignancies; (2) PRAME may be a marker for the progression that certain DICER1-related lesions are thought to undergo, such as PPB and CN; and (3) PRAME expression in some tumours, such as RMS, appears to be an intrinsic feature of the tumour, rather than specifically related to DICER1 PVs. Therapy directed against PRAME may offer novel treatment options in patients with the DICER1 syndrome.
Topics: Antigens, Neoplasm; DEAD-box RNA Helicases; Humans; Kidney Neoplasms; Neoplastic Syndromes, Hereditary; Phenotype; Pulmonary Blastoma; Ribonuclease III; Sarcoma
PubMed: 35297207
DOI: 10.1002/cjp2.264 -
EJC Paediatric Oncology Dec 2023While all childhood cancers are rare, tumors that are particularly infrequent or underrepresented within pediatrics are studied under the umbrella of the Children's...
While all childhood cancers are rare, tumors that are particularly infrequent or underrepresented within pediatrics are studied under the umbrella of the Children's Oncology Group Rare Tumor committee, divided into the Retinoblastoma and Infrequent Tumor subcommittees. The Infrequent Tumor subcommittee has traditionally included an emphasis on globally rare tumors such as adrenocortical carcinoma, nasopharyngeal carcinoma, or those tumors that are rare in young children, despite being common in adolescents and young adults, such as colorectal carcinoma, thyroid carcinoma, and melanoma. Pleuropulmonary blastoma, gonadal stromal tumors, pancreatic tumors including pancreatoblastoma, gastrointestinal stromal tumor, nonmelanoma skin cancers, neuroendocrine tumors, and desmoplastic small round cell tumors, as well as other carcinomas are also included under the heading of the Children's Oncology Group Rare Tumor committee. While substantial challenges exist in rare cancers, inclusion and global collaboration remain key priorities to ensure high quality research to advance care.
PubMed: 37829670
DOI: 10.1016/j.ejcped.2023.100024 -
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 -
Acta Chirurgica Belgica Jun 2024Pleuropulmonary blastoma (PPB) is a very rare tumor of the chest seen predominantly in young children with great heterogeneity and clinical, biochemical, and biological...
Pleuropulmonary blastoma (PPB) is a very rare tumor of the chest seen predominantly in young children with great heterogeneity and clinical, biochemical, and biological complexity and recognized, described, and classified as distinct from the pulmonary blastoma typically encountered in adults. Unfortunately, it has a poor and dismal prognosis and is mainly classified as cystic (type 1), mixed type (type 2), and solid (type 3). Herein, we present one case of PPB type 2 presenting clinically with a right pulmonary abscess, a rare clinical presentation of PPB, which was initially treated with surgery, and after approximately 1 year of follow-up, pulmonary rest-recurrence and central nervous system secondary deposits were detected. When a large pleural-based mass is identified in a young child, PPB should also be considered, especially in a patient with a positive oncological family history. Suggestive findings include the absence of chest wall invasion, presence of pleural fluid, right-sided location, and heterogeneous native (NECT) low attenuation with variable postcontrast enhancement. The authors believe that a modern therapeutic approach should consider these results for a better understanding of the genetic nature and complex mechanism and process of PPB disease development (both clinical and preclinical data concerning PPB pathophysiology are still lacking and are not completely understood) so that it would be possible to establish new possible therapeutic options (i.e. nuclear medicine theranostics in PPB treatment, developments and innovation in FLASH radiotherapy and proton therapy) and approaches, and so that, given the severity of the disease, it would be possible to indicate the importance of genetic testing and counseling of close relatives. In line with the previous, the rapid development of artificial intelligence could potentially bring the development of a novel fusion of radio mics and semantic features and MRI-based machine learning in distinguishing PPB from similar pathology.
PubMed: 38842285
DOI: 10.1080/00015458.2024.2365503 -
Seminars in Pediatric Surgery Oct 2014The management of congenital lung malformations is controversial both in the prenatal and postnatal periods. This article attempts to inform best practice by reviewing... (Review)
Review
The management of congenital lung malformations is controversial both in the prenatal and postnatal periods. This article attempts to inform best practice by reviewing the level of evidence with regard to prenatal diagnosis, prognosis, and management and postnatal management, including imaging, surgical indication, surgical approach, and risk of malignancy. We present a series of clinically relevant statements along those topics and analyze the evidence for each. In the end, we make a plea for an adequate description of the lesions, both before and after birth, which will allow future comparisons between management options and the initiation of prospective registries.
Topics: Female; Fetal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lung Diseases; Practice Guidelines as Topic; Pregnancy; Prenatal Diagnosis; Respiratory System Abnormalities
PubMed: 25459011
DOI: 10.1053/j.sempedsurg.2014.09.007 -
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 -
Pediatric Blood & Cancer Jun 2021Pleuropulmonary blastoma (PPB) is a rare cancer occurring mainly during early childhood and often associated with germline DICER1 mutations. It is classified by the...
Pleuropulmonary blastoma (PPB) is a rare cancer occurring mainly during early childhood and often associated with germline DICER1 mutations. It is classified by the macroscopic appearance into three interrelated clinico-pathologic entities on a developmental continuum. Complete tumor resection is a main prognostic factor and can be performed at diagnosis or after neoadjuvant treatment that includes chemotherapy and in some cases radiotherapy. Optimal modalities of neo- or adjuvant treatments can be challenging taking into account potential long-term toxicities in this young population. This paper presents the recommendations for diagnosis and treatment of children and adolescents with PPB elaborated by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) within the European Union-funded project PARTNER (Paediatric Rare Tumours Network - European Registry).
Topics: Adolescent; Child; Child, Preschool; DEAD-box RNA Helicases; Humans; Lung Neoplasms; Neoadjuvant Therapy; Pulmonary Blastoma; Registries; Ribonuclease III
PubMed: 33826235
DOI: 10.1002/pbc.29045 -
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