Anaplastic sarcoma of the kidney (DICER1-sarcoma of the kidney): A report from the International Pleuropulmonary Blastoma/DICER1 Registry.

BACKGROUND: Anaplastic sarcoma of the kidney (ASK) is a DICER1-related neoplasm first identified as a distinctive tumor type through the evaluation of unusual cases of putative anaplastic Wilms tumors. Subsequent case reports identified the presence of biallelic DICER1 variants as well as progression from cystic nephroma, a benign DICER1-related neoplasm. Despite increasing recognition of ASK as a distinct entity, the optimal treatment remains unclear. METHODS: Individuals with known or suspected DICER1-related tumors including ASK were enrolled in the International Pleuropulmonary Blastoma/DICER1 Registry. Additionally, a comprehensive review of reported cases of ASK was undertaken, and data were aggregated for analysis with the aim to identify prognostic factors and clinical characteristics to guide decisions regarding genetic testing, treatment, and surveillance. RESULTS: Ten cases of ASK were identified in the Registry along with 37 previously published cases. Staging data, per Children's Oncology Group guidelines, was available for 40 patients: 13 were stage I, 12 were stage II, 10 were stage III, and five were stage IV. Outcome data were available for 37 patients. Most (38 of 46) patients received upfront chemotherapy and 14 patients received upfront radiation. Two-year event-free survival (EFS) for stage I-II ASK was 81.8% (95% confidence interval [CI]: 67.2%-99.6%), compared with 46.6% EFS (95% CI: 24.7%-87.8%) for stage III-IV (p = .07). Two-year overall survival (OS) for stage I-II ASK was 88.9% (95% CI: 75.5%-100.0%), compared with 70.0% (95% CI: 46.7%-100.0%) for stage III-IV (p = .20). Chemotherapy was associated with improved EFS and OS with hazard ratios of 0.09 (95% CI: 0.02-0.31) and 0.08 (95% CI: 0.02-0.42), respectively. CONCLUSION: ASK is a rare DICER1-related renal neoplasm. In the current report, we identify clinical and treatment-related factors associated with outcome including the importance of chemotherapy in treating ASK. Ongoing data collection and genomic analysis are indicated to optimize outcomes for children and adults with these rare tumors.

Type II Pleuropulmonary Blastoma in a 4 Month Old Infant with Negative Dicer1 Mutation on Next Generation Sequencing.

INTRODUCTION: Pleuropulmonary blastoma (PPB) is a rare, but aggressive tumor in the pediatric population. PPB is a dysontogenetic neoplasm of childhood that involves the lungs and/or pleura. Young relatives of children with PPB have an increased incidence of neoplasias and dysplasias. According to tumor tissue histopathology, PPB evolves from a cystic to solid state over time. PPBs can be sub-classified as type I (purely cystic), type II (having both cystic and solid elements), and type III (completely solid). Type II and type III tumors may be associated with metastasis, with the brain being the most common metastatic site. Due to the primitive nature of cells in the tumor mass, PPBs are very aggressive tumors that are resistant to therapy. The prognosis depends on the histopathology content and tumor type. Respiratory problems are the main complaint and diagnosis can be made only after additional examinations. Genetic relations through family members are associated with mutations in the DICER1 gene; between 60-80% of patients with PPBs are positive for DICER1 mutations. Mosaicism has also been reported. AIM: The aim was to present a case of a 4 month-old infant with type II PPB, who had a negative result for DICER1 mutation in next generation sequencing. To detail the clinical presentation of this patient, we present radiographic and ultrasound findings and results of histopathological analysis, as well as genetic and scintigraphic findings and chemotherapy treatment. CASE REPORT: Here we describe the genetic analysis of a patient with PPB who was negative for mutations in DICER1 and who had no relatives with disease. This patient underwent radical resection of the tumor and began therapy, but subsequently died after developing leukopenia and sepsis. CONCLUSION: This case provides an example of a patient with PPB who was negative for DICER1 mutation upon genetic analysis and emphasizes the potential for disease that does not involve mutation of this gene.

Expression of p53 is significantly associated with recurrence-free survival and overall survival in pleuropulmonary blastoma (PPB): a report from the International Pleuropulmonary Blastoma/DICER1 Registry.

Pleuropulmonary blastoma (PPB) is a primary embryonal malignancy of childhood that is characterized by distinct morphologic types: type Ir (regressed), type I (cystic), type II (cystic and solid), and type III (solid). Prognosis varies by PPB type. Most cases are associated with a germline pathogenic mutation in DICER1; however, there is limited data on the factor(s) at a cellular level that drive progression from type I to type III. In this study, we evaluated the expression of p53 and its prognostic implications. A total of 143 PPB cases were included in the study with the following distribution in PPB types: Ir (14%), I (23%), II (32%), and III (31%). P53 expression by immunohistochemistry (IHC) was recorded as four groups: 0%, 1-25%, 26-75%, and 76-100%. All type I PPBs showed 0-25% p53 expression compared to the higher p53 expression (>25%) in type III PPB (p < 0.0001), to support the argument that p53 has a role in tumor progression. In addition, type Ir with the architectural hallmarks of type I PPB, but lacking the primitive cell population, has negligible p53 expression. High p53 expression (staining observed in >25% of the tumor cells) was significantly associated with age over 1 year (p = 0.0033), neoadjuvant therapy (p = 0.0009), positive resection margin (p = 0.0008) and anaplasia (p < 0.0001). P53 expression was significantly associated with recurrence-free survival (p < 0.0001) and overall survival (p = 0.0350), with higher p53 expression associated with worse prognosis. Comparisons of concordance statistics showed no significant difference in prognostication when using morphologic types compared to p53 expression groups (p = 0.647). TP53 sequence was performed in 16 cases; the most common variant identified was a missense variant (12 cases), and in one case a frameshift truncating variant was noted. Based on these findings, we recommend performing p53 IHC in all newly diagnosed cases of types II and III PPB to further aid in risk stratification.

Pneumonectomy for Pediatric Tumors-a Pediatric Surgical Oncology Research Collaborative Study.

OBJECTIVE: To describe utilization and long-term outcomes of pneumonectomy in children and adolescents with cancer. SUMMARY BACKGROUND DATA: Pneumonectomy in adults is associated with significant morbidity and mortality. Little is known about the indications and outcomes of pneumonectomy for pediatric tumors. METHODS: The Pediatric Surgical Oncology Research Collaborative (PSORC) identified pediatric patients <21 years of age who underwent pneumonectomy from 1990 to 2017 for primary or metastatic tumors at 12 institutions. Clinical information was collected; outcomes included operative complications, long-term function, recurrence, and survival. Univariate log rank, and multivariable Cox analyses determined factors associated with survival. RESULTS: Thirty-eight patients (mean 12 ±â€Š6 yrs) were identified; median (IQR) follow-up was 19 (5-38) months. Twenty-six patients (68%) underwent pneumonectomy for primary tumors and 12 (32%) for metastases. The most frequent histologies were osteosarcoma (n = 6), inflammatory myofibroblastic tumors (IMT; n = 6), and pleuropulmonary blastoma (n = 5). Median postoperative ventilator days were 0 (0-1), intensive care 2 (1-3), and hospital 8 (5-16). Early postoperative complications occurred in 10 patients including 1 death. Of 25 (66%) patients alive at 1 year, 15 reported return to preoperative pulmonary status. All IMT patients survived while all osteosarcoma patients died during follow-up. On multivariable analysis, metastatic indications were associated with nonsurvival (HR = 3.37, P = 0.045). CONCLUSION: This is the largest review of children who underwent pneumonectomy for cancer. There is decreased procedure-related morbidity and mortality than reported for adults. Survival is worse with preoperative metastatic disease, especially osteosarcoma.

The Effect of Gross Total Resection on Patients with Pleuropulmonary Blastoma.

BACKGROUND: Pleuropulmonary blastoma (PPB) is the most common primary lung cancer in children. While rare, these tumors are highly aggressive. Tumor recurrence and overall survival are dependent on histologic grade and extent of surgical resection. We sought to examine our institutional experience with PPB to determine the effect of gross total resection (GTR) on recurrence and patient outcomes. MATERIALS AND METHODS: After IRB approval, a retrospective chart review from 1998 to 2018 was performed. Cases were confirmed by histology and Dehner Grade (I to III). Data collection included demographics, treatment, extent of surgical resection, and patient outcomes. RESULTS: Eight patients with nine procedures were identified. Histologically, three cases were type 1, 2 type 2, and four poor prognosis type 3. Three patients received neoadjuvant chemotherapy to facilitate surgical resection. The operative goal was to achieve GTR (>95%), and to this end, three partial lobectomies, five lobectomies, and one pneumonectomy were performed. All nine cases achieved GTR, of which eight had negative microscopic margins. Two patients with type III disease recurred (one locally, one distant) and died. One type 3 patient had a positive microscopic hilar margin not amenable to further resection. The patient recurred (distant) but is in remission. With respect to patient outcomes, the event-free survival was 2.3 y with an overall survival of 3.3 y. CONCLUSIONS: From our experience, GTR of PPB is associated with minimal surgical morbidity and good overall survival. Multi-institutional studies are needed to determine if positive surgical margins affect outcomes given the morbidity of mediastinal dissection.

Primary malignant lung tumors in children: A report from the Australian Childhood Cancer Registry, 1983-2015.

Lung cancers in children under the age of 15 are very uncommon, with a scarcity of literature describing patient characteristics and survival. This study assessed first primary malignant cancers occurring in the trachea, bronchus, or lung (International Classification of Diseases for Oncology, 3rd edition [ICD-O-3] codes C33-C34) for the period 1983-2015, using data from the population-based Australian Childhood Cancer Registry. Variables of interest included morphology, sex, age group, and metastatic status at diagnosis. Mode of treatment was also assessed where possible. The Kaplan-Meier method was used to calculate 5-year observed survival. Of the 53 in-scope patients, almost half (n = 23, 43%) were diagnosed with pleuropulmonary blastoma and a further 8 (15%) had a carcinoid tumor. Few of the patients with details available on stage at diagnosis (n = 7 of 43, 16%) presented with metastatic disease. Surgical excision was the most common treatment (30 of 37 children, 81%), with two-thirds (n = 28 of 43, 65%) receiving chemotherapy. Five-year observed survival was estimated to be 74% (95% CI = 61%-85%). Our results represent one of the largest and most complete population-based cohorts of children with primary malignant lung cancers available to date. Detection of childhood lung cancer can be difficult due to the rarity of this disease and symptoms that are typically nonspecific.

Diagnosis and treatment of pleuropulmonary blastoma in children: A single-center report of 41 cases.

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.

Clinical analysis of early death in children with pleuropulmonary blastoma in a single center in China.

OBJECTIVE: Pleuropulmonary blastoma (PPB) is a rare malignant tumor in childhood that is highly invasive and has poor prognosis. We retrospectively analyzed patients with PPB who died within 30 days in hopes of providing a basis for improving diagnosis and treatment. METHODS: We retrospectively reviewed six children with PPB who died within 30 days of admission at our hospital from January 2004 to March 2018, including their clinical features, pathological diagnosis, course of treatment, and major causes of death. RESULTS: Six patients (two female, four male; median age, 38 months) were included. All patients presented with respiratory symptoms. Chest imaging showed that all tumors had diameters greater than 10 cm, with varying degrees of serous effusion. Four patients underwent ultrasound-guided fine-needle aspiration (FNA), one patient underwent exploratory thoracotomy, and one underwent partial tumor resection. Five cases were type III, and another was type II. Four patients developed adverse events while waiting for pathological results after FNA, and four patients were treated with chemotherapy but their tumors failed to decrease in size one to two weeks later. The median hospitalization to death time was 17 days (range, 5-24 days). CONCLUSIONS: PPB often presents with respiratory symptoms that rapidly develop into respiratory distress. The rapid tumor enlargement contributes to the disease's progression. Chemoreduction in such tumors is not obviously effective, and the mortality rate is high. The main causes of death were respiratory failure and sepsis. Further clinical studies will be required to evaluate the role of initial biopsy compared with upfront total excision.

DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.

BACKGROUND: To expand the current knowledge of DICER1 syndrome and to propose criteria for genetic testing based on experience at a pediatric tertiary care center. PROCEDURE: This study involved a retrospective chart review of the 78 patients (47 probands and 31 family members) seen in the Cancer Genetics Program at The Hospital for Sick Children (SickKids) who were offered genetic testing for DICER1. RESULTS: Of 47 probands offered genetic testing for DICER1, 46 pursued testing: 11 (23.9%) carried a pathogenic variant and one proband (2.1%) carried a missense variant of uncertain significance with evidence for pathogenicity. Thirty-one family members of variant-positive probands were offered testing: eight of the 25 who agreed to testing carried their familial variant (32.0%). Overall, 20 patients were identified to have a variant in DICER1 (eight males, 12 females). Of these, 13 (65.0%) presented with clinical manifestations associated with the syndrome. The most common lesions were pleuropulmonary blastoma (PPB) (five of 20 patients, 25.0%) and pineoblastoma (three of 20 patients, 15.0%). The average age at which individuals were diagnosed with a primary neoplasm was 5.2 years (range 0.8-20 years, median 3.0). Surveillance at our institution, with a median follow-up time of 23 months, has identified PPB in two asymptomatic individuals. These lesions were identified at early stages, thus potentially reducing treatment-related morbidity and mortality. CONCLUSION: This study further delineates the DICER1 syndrome phenotype and demonstrates the feasibility of a DICER1 syndrome surveillance protocol for the early detection of tumors.

Radiographic screening of infants and young children with genetic predisposition for rare malignancies: DICER1 mutations and pleuropulmonary blastoma.

OBJECTIVE: The purpose of this study was to compare the risks of radiation in screening strategies using chest radiographs and CT to detect a rare cancer in a genetically predisposed population against the risks of undetected disease. MATERIALS AND METHODS: A decision analytic model of diagnostic imaging screening strategies was built to predict outcomes and cumulative radiation doses for children with DICER1 mutations screened for pleuropulmonary blastoma. Screening strategies compared were chest radiographs followed by chest CT for a positive radiographic result and CT alone. Screening frequencies ranged from once in 3 years to once every 3 months. BEIR VII (model VII proposed by the Committee on the Biological Effects of Ionizing Radiation) risk tables were used to predict excess cancer mortality for each strategy, and the corresponding loss of life expectancy was calculated using Surveillance Epidemiologic and End Results (SEER) statistics. Loss of life expectancy owing to undetected progressive pleuropulmonary blastoma was estimated on the basis of data from the International Pleuropulmonary Blastoma Registry. Sensitivity analysis was performed for all model parameters. RESULTS: Loss of life expectancy owing to undetected disease in an unscreened population exceeded that owing to radiation-induced cancer for all screening scenarios investigated. Increases in imaging frequency decreased loss of life expectancy for the combined (chest radiographs and CT) screening strategy but increased that for the CT-only strategy. This was because loss of life expectancy for combined screening is dominated by undetected disease, whereas loss of life expectancy for CT screening is dominated by radiation-induced cancers. CONCLUSION: Even for a rare disease such as pleuropulmonary blastoma, radiographic screening of infants and young children with cancer-predisposing mutations may result in improved life expectancy compared with the unscreened population. The benefit of screening will be greater for diseases with a higher screening yield.

Pleuropulmonary blastoma: a report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry.

BACKGROUND: Pleuropulmonary blastoma (PPB) has 3 subtypes on a tumor progression pathway ranging from type I (cystic) to type II (cystic/solid) and type III (completely solid). A germline mutation in DICER1 is the genetic cause in the majority of PPB cases. METHODS: Patients confirmed to have PPB by central pathology review were included, and their clinical characteristics and outcomes were reported. Germline DICER1 mutations were sought with Sanger sequencing. RESULTS: There were 435 cases, and a central review confirmed 350 cases to be PPB; 85 cases (20%) were another entity. Thirty-three percent of the 350 PPB cases were type I or type I regressed (type Ir), 35% were type II, and 32% were type III or type II/III. The median ages at diagnosis for type I, type II, and type III patients were 8, 35, and 41 months, respectively. The 5-year overall survival (OS) rate for type I/Ir patients was 91%; all deaths in this group were due to progression to type II or III. OS was significantly better for type II versus type III (P = .0061); the 5-year OS rates were 71% and 53%, respectively. Disease-free survival (DFS) was also significantly better for type II versus type III (P = .0002); the 5-year DFS rates were 59% and 37%, respectively. The PPB type was the strongest predictor of outcome. Metastatic disease at the diagnosis of types II and III was also an independent unfavorable prognostic factor. Sixty-six percent of the 97 patients tested had a heterozygous germline DICER1 mutation. In this subset, the DICER1 germline mutation status was not related to the outcome. CONCLUSIONS: Cystic type I/Ir PPB has a better prognosis than type II, and type II has a better outcome than type III. Surveillance of DICER1 carriers may allow the earlier detection of cystic PPB before its progression to type II or III PPB and thereby improve outcomes.

Diagnosis and treatment of pleuropulmonary blastoma-single center experience.

Pleuropulmonary blastoma (PPB) is a rare and potentially aggressive intrathoracic disembryonic neoplasm typically occurring in children less than 6 years of age. We assessed the relative incidence, clinical characteristics, treatment outcome, and the prognostic factors for long-term survival in patients with PPB treated at our institution over a 25-year period, and compared these data with reports in the literature. From 1985 to 2010, 11 children (4 males and 7 females), with a median age of 5.4 years (range, 1-12 years) were treated at our hospital. Here we described the main characteristics of these patients, the diagnostic methods, and treatment modalities used. During a median follow-up period of 80, 9 months, the overall survival (OS) and disease-free survival (DFS) rates were 54, 6% and 45, 5%, respectively. Two patients survived for more than 20 years. The main prognostic factors for long-term survival were the diseases type I and II and treatment with radical surgery. Our results show that in order to improve the prognosis of patients with PPB a timely in our opinion and accurate diagnosis needs to be established and treatment should be offered according to the disease type and extend of dissemination.

The assessment of primitive or metastatic malignant pulmonary tumors in children.

BACKGROUND: The purpose of our study is to assess primitive and secondary malignant pulmonary tumors in children. The presence of lung tumors in newborns and infants is a point of interest to specialists in pediatric surgery, thoracic surgery and genetics due to the high death rate. The 5-years survival rate communicated by EUROCARE-study is less than 10% for primitive tumors and less than 15% in lung metastases. MATERIALS AND METHOD: We performed a retrospective study which analysed 11 children with pulmonary primary ormetastatic tumors admitted in the Pediatric Surgery Department "Prof. Dr. Al. Pesamosca" of the Emergency Clinical Hospital for Children "Maria Sklodowska Curie",Bucharest. The analysed and operated patients underwent surgery by Prof. Dr. Al. Pesamosca and the authors during the period of 1985-2011. In our series there where 4 primitive lung tumors and 7 secondary ones: 8 underwent surgery and 2 died before being operated on. The incidence of primitive pulmonary lung malignancies is higher for females, 3 to1, and secondary ones are more frequent in males, 6 to 1. RESULTS: Patients with primitive pulmonary malignancies were late diagnosed. Their age ranged between 1 to 6 years;3 were operated on, out of which 2 died, and 1 operated still survives. The 7 patients with secondary pulmonary malignancies were late diagnosed, too, probably as a consequence of a late diagnosis of the origin tumor. CONCLUSIONS: Even if all malignancies require an early diagnosis and treatment, this aim regarding malignant lung tumors is still a desideratum animating all practitioners. Primitive tumors are diagnosed presenting the main clinical manifestation abroncho pulmonary infection. Secondary lung malignancies are usually asymptomatic and are diagnosed when monitoring a patient for a malignancy with another origin. Chemotherapy,radiotherapy and surgery of malignant primitive tumors or metastatic ones in children remain unsatisfactory because of the late diagnosis and the limited methods of treatment. Nowadays genetics identified the responsible oncogenes for pulmonary blastic explosion and better results could be obtained by genetic surgery.

Pleuropulmonary blastoma: a single-institution experience.

Pleuropulmonary blastoma (PPB) is a rare primary intrathoracic mesenchymal malignancy that occurs exclusively in early childhood. Twelve patients were diagnosed with PPB (1 type I, 5 type II, and 6 type III) between 1979 and 2009 at our institution. Upfront complete tumor resection was successful in 5 of 6 patients. Six patients had biopsy followed by neoadjuvant chemotherapy, 2 had complete tumor resection, and 2 had microscopic residual disease after surgery. All patients received vincristine, dactinomycin, and cyclophosphamide chemotherapy. Eight received additional chemotherapy with doxorubicin, cisplatin, etoposide, or ifosfamide. Three patients received local irradiation. The 5-year event-free and overall survivals were 33% ± 14% and 42% ± 14%, respectively. Median time to progression was 8 months. Five of 9 patients with gross total resection survived, whereas all 3 with gross residual disease died. Three of 5 survivors did not receive radiation. A high index of suspicion for PPB must be maintained in all patients diagnosed with intrathoracic sarcoma in early childhood. Gross total resection is necessary for cure, and selected patients do not require radiation therapy.

[Pleuropulmonary blastoma: a clinicopathological analysis].

BACKGROUND AND OBJECTIVE: Pleuropulmonary blastoma (PPB) is a rare malignant tumor with unique clinicopathological features. The aim of this study is to investigate the clinicopathological features, the diagnosis and differential diagnosis of pleuropulmonary blastoma. METHODS: Five cases of PPB were analyzed by light microscopy, immunohistochemistry and their clinical data, and the relative literatures were reviewed. RESULTS: Five cases of patients suffered from PPB were aged from 21 to 47 months (mean 32.8 months). Most of the masses were located in the thoracic cavities and 4 cases accompanied with pleural effusions. Histologically, these tumors included 1 case of type I PPB which showed pure cystic architecture; 2 cases were type II PPB which showed cystic and solid masses accompanied with rhabdomyoblastic differentiation and nodules of cartilage; the other 2 cases were type III PPB and characterized by absolute solid masses with anaplastic undifferentiated sarcomatous components. Immunohistochemical studies showed that tumor cells were positive for Vimentin and some for Desmin and Myogenin, the nodules of cartilage were positive for S-100. The tumor cells were negative for PCK, EMA and CD99. CONCLUSION: Pleuropulmonary blastoma is a rare and highly aggressive malignancy arising in the lung and pleural of infancy and early childhood. The type I, II and III PPB have unique clinicopathological features respectively. This kind of tumor should be distinguished from some benign and malignant diseases such as congenital cystic adenomatoid malformation (CCAM) and embryonal rhabdomyosarcoma.

Neuroblastoma y blastoma toráxicos: presentación de 3 casos / Neuroblastoma and thoracic blastoma: three cases presentation

Se presentan 3 pacientes atendidos en la sala de afecciones respiratorias con diagnósticos al ingreso de procesos infecciosos agudos en los años 1995, 2002 y 2005 donde se sospecha la presencia tumoral por la imaginología radiológica con estudio simple de tórax posteroanterior en los pacientes portadores de Neuroblastoma mediastinal confirmándose por Tomografía Axial Computarizada. En el caso afecto de Blastoma Pulmonar el diagnóstico requirió de estudio anatomopatológico y su evolución fue fatal (AU)

There are presented 3 patients attended in respiratory affectation room with diagnosis to entrance of acute infectious processes in 1995, 2002 and 2005 where there is a suspicion of tumor presence by the radiological imaging with a simple study of thorax post-anterior in the patients who have the mediastinal neuroblastoma confirmming this by computariszed axial tomography. In the case of the patient affected by pulmonary blastoma the diagnosis required the anatomopathological study and its fatal evolution (AU)

[Pulmonary blastoma in adults]. / Le pneumoblastome pulmonaire chez l'adulte.

Pneumoblastoma (PB) is a rare, malignant, primary, pulmonary tumour, of young adults. Its discovery is fortuitous in asymptomatic patients. It is a well-delimited, homogeneous lesion in the lung periphery. Histologically, its structure looks like a normal fetal lung. The surgical resection is the treatment of choice. The radiotherapy is an empirical palliative treatment to relieve dyspnea when other treatments failed. The prognosis is bad: 16% survive 5 years and 8% beyond 10 years, all treatments included. Metastases could appear in the liver, the brain and the bone.

Prognostic factors in pleuro-pulmonary blastoma.

PURPOSE: To evaluate the prognostic factors in a series of children affected by pleuropulmonary blastoma (PPB). PATIENTS AND METHODS: Clinicopathological findings, treatment, and outcome of 22 PPB cases observed in 13 Italian Associations for Pediatric Hematology and Oncology centers are reported. Clinical data, surgical notes, pathologic findings, and summaries of treatment were taken from the charts and correlated with outcome by standard statistical methods. RESULTS: The series included 22 patients (14 males) with a median age of 30.5 months followed up for a median of 22 months (range 2-176 months). In nine patients the PPB developed with lung involvement only. Congenital lung cysts were recorded in five cases. Nine patients had recurrences. Gender, side, tumor size, pre-existing lung cysts, and extent of surgical resection at diagnosis did not significantly affect survival by univariate analysis. Achieving total resection of the tumor at any time of treatment resulted in a significantly better prognosis (P = 0.01), whereas extrapulmonary involvement at diagnosis resulted in a significantly worse prognosis (P = 0.01). Estimated 15-year event-free and overall survival rates were 44 and 49% for all patients, respectively. CONCLUSIONS: PPB is an aggressive neoplasm. Total resection of PPB performed at any time of treatment appears to provide a better outcome, whereas extrapulmonary involvement at diagnosis worsens the prognosis.

Pulmonary blastoma--a rare tumor with variable presentation.

BACKGROUND: Pulmonary blastoma is a rare primary lung tumor with poor prognosis that commonly presents at a younger age than the non-small cell lung carcinoma (NSCLC). Classically they are large, symptomatic tumors with lymph nodal metastasis and carry poor prognosis. We report our experience of 7 patients with pulmonary blastoma who presented with varying clinical features. METHODS: Retrospective analysis of our database revealed seven patients with pulmonary blastoma that were operated between January 1993 and December 2004. During the same time, 889 lung resections were performed for primary NSCLC. Demographic and clinical details were obtained from hospital notes. The histopathology reports were reviewed with the department of pathology and the radiological images were reported. RESULTS: The tumors showed a bimodal pattern in age at incidence being (four patients were less than 49 years and three more than 66 years). All patients were symptomatic and demonstrated variable sized tumors. Lesions were common in lower lobes (lower:other lobes -4:3) and were staged T2N0 pathologically. All of the patients underwent surgical resections and had no chemotherapy/radiotherapy following surgery. Three of the seven patients died during follow-up due to unrelated causes between 24 and 29 months. The longest follow-up was more than 9 years and the survivor continues to do well. CONCLUSIONS: Pulmonary blastomas are rare tumors but can present with differing clinical features. Early detection and treatment may improve prognosis. Further larger series are needed to evaluate the characteristics of the tumor.

Pulmonary blastoma: medium-term results from a regional center.

BACKGROUND: Pulmonary blastomas are rare lung tumors that morphologically resemble fetal pulmonary structure and can exist in two forms, biphasic and monophasic. We reviewed our experience over a 12-year period with emphasis on the clinical features, management, and outcome. METHODS: Patients with a diagnosis of pulmonary blastoma from January 1988 to July 1999 were identified from the database of the Department of Histopathology, Llandough Hospital, Cardiff. Specimens had been obtained from bronchoscopy, fine-needle aspiration, trucut biopsy, and thoracotomy. RESULTS: Six patients were identified from 2,720 histologically proven lung cancers (0.2%). Median age was 35.5 years and sex ratio was equal. Overall, 4 patients underwent resection and are all alive (median, 43.5 months). Three of these had advanced tumors at presentation (stage IIIb or IV), two of which were successfully downstaged with neoadjuvant chemotherapy, and the third treated with postoperative radiotherapy. Nonresected cases succumbed at a median of 5.5 months. CONCLUSIONS: Although pulmonary blastomas are rare, those affected represent a group of patients with advanced tumors for whom a coordinated approach from both oncologists and surgeons can achieve excellent medium-term results.