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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 -
Pathology Case Reviews Mar 2014Germline mutations in are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma (PPB), cystic nephroma, nasal...
Germline mutations in are associated with increased risk for a wide variety of neoplastic conditions, including pleuropulmonary blastoma (PPB), cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, botryoid embryonal rhabdomyosarcoma of the uterine cervix, ciliary body medulloepithelioma, pineoblastoma, pituitary blastoma and nodular thyroid hyperplasia or thyroid carcinoma. These tumors may be seen in isolation or in constellation with other characteristic tumor types in individuals or family members. Here we describe the medical history of a child with a heterozygous, loss of function germline mutation and multiple tumors associated with the syndrome.. Although germline mutations in are rare, tumors of these types will be seen by practicing pathologists and should prompt consideration of an underlying mutation.
PubMed: 25356068
DOI: 10.1097/PCR.0000000000000027 -
Diagnosis and treatment of pleuropulmonary blastoma in children: A single-center report of 41 cases.Journal of Pediatric Surgery Jul 2020This study was performed to investigate the age at onset, clinical manifestations, pathological types and features, treatment, and prognosis of pleuropulmonary blastoma...
OBJECTIVE
This study was performed to investigate the age at onset, clinical manifestations, pathological types and features, treatment, and prognosis of pleuropulmonary blastoma (PPB) in children in an attempt to reduce the misdiagnosis rate and achieve early detection and timely intervention.
METHODS
We retrospectively studied the clinical data of 41 pediatric patients with PPB who were treated in our center from March 2002 to November 2018. The data comprised the age at onset, clinical manifestations, characteristics of familial diseases, pathological types, surgical procedures, and prognosis.
RESULTS
Twenty male and 21 female patients were included, with a 0.95:1.00 male:female ratio. In total, 51.2% of the patients were misdiagnosed as having nonneoplastic lesions at the first presentation. The interval from symptom onset to surgery/chemotherapy ranged from 5 to 210 days. The pathological types were type I (cystic) PPB (n = 5, 11.9%), for which the median age at diagnosis was 21 months (range, 8-24 months); (solid/cystic) II PPB (n = 12, 28.6%), for which the median age at diagnosis was 37 months (range, 22-112 months); and type III (solid) PPB (n = 23, 54.8%), for which the median age at diagnosis was 39 months (range, 19-156 months). The pathologic type was undefined in one patient (2.4%). The patients were mainly treated by surgery and chemotherapy. The 5-year disease-free survival rate was 69.2%.
CONCLUSION
The clinical manifestations of PPB are nonspecific, its misdiagnosis rate is high, and it has a poor prognosis. Pediatricians should be aware of the seriousness of PPB. The possibility of PPB should be considered in children with pneumothorax, multiple pulmonary cystic lesions, a family history of pulmonary cysts, a family history of PPB, or space-occupying lesions associated with DICER1 syndromes. The lesion should be closely monitored and surgically removed if necessary. The nature of the lesion should be identified early to minimize the risk of progression of the PPB to worse types because of misdiagnosis and missed diagnosis. Multidisciplinary treatment including surgery, chemotherapy, and/or radiotherapy can be applied to patients with PPB.
TYPE OF STUDY
Treatment study.
LEVEL OF EVIDENCE
Level III.
Topics: Child; Child, Preschool; Diagnostic Errors; Female; Humans; Infant; Male; Pulmonary Blastoma; Retrospective Studies
PubMed: 31277979
DOI: 10.1016/j.jpedsurg.2019.06.009 -
Journal of Pediatric Hematology/oncology Nov 2017Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood which when left untreated often shows pathologic progression resulting in a more aggressive neoplasm...
Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood which when left untreated often shows pathologic progression resulting in a more aggressive neoplasm with an increasingly poor prognosis. Because of this it is important to diagnose and initiate treatment early. However, early stage PPB can appear as a cystic lung lesion on imaging and can be easily misdiagnosed given the rarity of the malignancy. Moreover, current therapeutic guidelines for these lesions are not well established, making treatment decisions and management difficult for clinicians. DICER1 mutations are known to be present in a majority of PPBs with or without a germline mutation and may be part of a familial tumor predisposition syndrome. The clinical, pathologic, and genetic data of 6 patients are summarized here. Two patients with type I PPB and 4 patients with type II PPB underwent surgical and chemotherapeutic treatment and all are alive and without recurrence 1 to 13 years after treatment. With increasing awareness of PPB, it is important for clinicians to consider this malignant entity in the evaluation and treatment of patients presenting with a cystic lung abnormality, especially in cases with a history strongly suggestive of a DICER1 mutation.
Topics: Biopsy; Child, Preschool; Combined Modality Therapy; DEAD-box RNA Helicases; DNA Mutational Analysis; Female; Humans; Infant; Male; Mutation; Pulmonary Blastoma; Recurrence; Ribonuclease III; Risk Factors; Treatment Outcome
PubMed: 28991133
DOI: 10.1097/MPH.0000000000000972 -
Pediatric Radiology Oct 2019DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. Diseases in the syndrome result from... (Review)
Review
DICER1 syndrome is a highly pleiotropic tumor predisposition syndrome that has been increasingly recognized in the last 10 years. Diseases in the syndrome result from mutations in both copies of the gene DICER1, a highly conserved gene that is critically implicated in micro-ribonucleic acid (miRNA) biogenesis and hence modulation of messenger RNAs. In general, susceptible individuals carry an inherited germline mutation that disables one copy of DICER1; within tumors, a very characteristic second mutation alters function of the other gene copy. About 20 hamartomatous, hyperplastic or neoplastic conditions comprise DICER1 syndrome. Most are not life-threatening, but some are aggressive malignancies. There are many unaffected carriers because penetrance is generally low; however, clinically occult thyroid nodules and lung cysts are frequent. Rare diseases of early childhood were the first recognized conditions in DICER1 syndrome, while other conditions affect adolescents and adults. The hallmarks of DICER1 syndrome are certain rare tumors including pleuropulmonary blastoma; cystic nephroma; ovarian Sertoli-Leydig cell tumor; sarcomas of the cervix, kidneys and cerebrum; pituitary blastoma; ciliary body medulloepithelioma; and nasal chondromesenchymal hamartoma. Radiologists are often the first practitioners to observe these diverse manifestations and play a primary role in recognizing DICER1 syndrome.
Topics: Child; DEAD-box RNA Helicases; Diagnosis, Differential; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Neoplastic Syndromes, Hereditary; Rare Diseases; Ribonuclease III
PubMed: 31620849
DOI: 10.1007/s00247-019-04429-x -
Clinics in Perinatology Jun 2012Confusion, controversy, and uncertainty are all terms applicable to the diagnosis and management of congenital lung lesions both prenatally and postnatally. This review... (Review)
Review
Confusion, controversy, and uncertainty are all terms applicable to the diagnosis and management of congenital lung lesions both prenatally and postnatally. This review examines the current status of fetal diagnosis and treatment of these lesions; reviews the various classifications, including congenital cystic adenomatoid malformation/congenital pulmonary airway malformation, sequestrations, variants and hybrid lesions; discusses the risk of malignant transformation or misdiagnosis with pleuropulmonary blastoma; presents the arguments in favor and against resection of asymptomatic lesions, the timing of such resection, and the long-term pulmonary function after resection; and reviews the experience with thoracoscopic resection of congenital lung lesions.
Topics: Betamethasone; Bronchopulmonary Sequestration; Cystic Adenomatoid Malformation of Lung, Congenital; Diagnosis, Differential; Female; Humans; Hydrops Fetalis; Lung Neoplasms; Pregnancy; Prenatal Diagnosis; Pulmonary Atresia; Pulmonary Blastoma; Ultrasonography
PubMed: 22682383
DOI: 10.1016/j.clp.2012.04.009 -
Cureus Dec 2021Pleuropulmonary blastoma (PPB) is a rare pediatric cancer, and although there have been improvements in its treatment approach, recurrences retain a very poor prognosis....
Pleuropulmonary blastoma (PPB) is a rare pediatric cancer, and although there have been improvements in its treatment approach, recurrences retain a very poor prognosis. Here, we report a case of a 30-month-old female who survived recurrent PPB after undergoing surgery, adjuvant chemotherapy, intrapleural cisplatin infusion, and targeted therapy through whole exome sequencing (WES). Intrapleural cisplatin infusion and target therapy appear to be safe and can be considered in a multimodal approach for the management of recurrent PPB.
PubMed: 35103161
DOI: 10.7759/cureus.20584 -
Radiology Case Reports Sep 2021Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part...
Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part of predisposition syndrome for different type of tumor. It is characterized histologically by a primitive, variably mixed blastomatous and sarcomatous tissue. PPB is classified into four subtypes: cystic (type I and type Ir); cystic and solid (type II); solid (type III). PPB has no characteristic imaging findings. Integrated imaging can help to make a differential diagnosis and to recognize the subtypes in order to set up therapy. An early recognition and differentiation from congenital airway malformations and other benign cysts are very important. The treatment consists in a multimodal therapy including surgery and chemoterapy. We report a case of 3 years old female admitted at our hospital with fever, non productive cough and dyspnea, who was diagnosed with type II PPB.
PubMed: 34345335
DOI: 10.1016/j.radcr.2021.06.022 -
Tuberkuloz Ve Toraks 2003Pulmonary blastoma is a rare seen malignant tumor. It is generally reported in adults. The tumor including immature mesenchimal and/or epithelial structures is... (Review)
Review
Pulmonary blastoma is a rare seen malignant tumor. It is generally reported in adults. The tumor including immature mesenchimal and/or epithelial structures is morphologically similar to fetal lung tissue. In this study, a male patient having been operated is presented because of the mass found in his chest X-ray. The lesion is histopathologically reported as a pleuropulmonary blastoma. The literature is reviewed because this case has a bad prognosis and is rarely seen.
Topics: Diagnosis, Differential; Humans; Lung Neoplasms; Magnetic Resonance Imaging; Male; Middle Aged; Pleural Neoplasms; Pulmonary Blastoma; Tomography, X-Ray Computed
PubMed: 15143394
DOI: No ID Found -
Pediatric Blood & Cancer Jun 2021Limited data are available regarding radiation therapy in pediatric pleuropulmonary blastoma (PPB). We report the case of a 3-year-old girl with type II PPB successfully...
Limited data are available regarding radiation therapy in pediatric pleuropulmonary blastoma (PPB). We report the case of a 3-year-old girl with type II PPB successfully treated with trimodality therapy including multiagent chemotherapy, resection, and whole pleura radiation therapy. While longer follow-up is required to confirm ultimate local tumor control and long-term post-treatment sequelae, currently 3.5 years following therapy, she is well, without recurrent disease or observable toxicity. The goal of this report is to add our experience to the literature regarding PPB, its management, and treatment, as prospective randomized controlled trials are not feasible due to the rarity of this disease.
Topics: Antineoplastic Agents; Antineoplastic Combined Chemotherapy Protocols; Child, Preschool; Combined Modality Therapy; DEAD-box RNA Helicases; Dactinomycin; Doxorubicin; Female; Frameshift Mutation; Humans; Ifosfamide; Lung Neoplasms; Pulmonary Blastoma; Radiotherapy, Conformal; Ribonuclease III; Vincristine
PubMed: 33751747
DOI: 10.1002/pbc.29004