[Biphasic Pulmonary Blastoma without Recurrence for Six Years After Surgery:Report of a Case].

A 62-year-old man was referred to our hospital for a lung tumor. Computed tomography (CT) of the chest showed a 62×55×68 mm well-circumscribed tumor in the upper lobe of the right lung. A transbronchial lung biopsy was performed, but a diagnosis was not achieved. Positron emission tomography-CT demonstrated intense F-fluorodeoxyglucose uptake in the mediastinal side of the tumor. Surgery was performed under the suspicion of primary lung cancer. The intraoperative pathological examination indicated a non-small-cell carcinoma. Thus, right upper lobectomy and wedge resection of the right lower lobe were performed. Microscopically, the tumor was composed of epithelial components, mimicking fetal lung tissue and embryogenic stroma. Therefore, the tumor was diagnosed as a biphasic pulmonary blastoma (p-StageⅡA). After the post-operative adjuvant chemotherapy, he has remained healthy without recurrence six years after the surgery.

Multimodality Imaging of Pleuropulmonary Blastoma: Pearls, Pitfalls, and Differential Diagnosis.

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.

Classic biphasic pulmonary blastoma (CBPB): a rare primary pulmonary malignancy.

Classic biphasic pulmonary blastoma (CBPB) is a very rare primary pulmonary malignancy with distinctive clinical and pathological features. Usually CBPB presents with either non specific symptoms or is diagnosed incidentally. Histologically CBPB is composed of a mixture of malignant epithelial and stromal cells resembling fetal lung tissue. Surgical resection is the mainstay of treatment with further chemotherapy or radiotherapy on a case-by-case basis. However, due to its rarity, no definite treatment guidelines are available. CBPB overall has a very poor prognosis with a 5-year survival rate of only 15%. Our patient presented with cough and haemoptysis. Her chest radiograph demonstrated a large right-sided lung mass. Further investigations included CT, CT-guided biopsy and PET CT which were discussed at multidisciplinary team meetings. The patient then underwent complete surgical excision. We report this rare malignancy with radiological and pathological features, comparing them with previously reported cases.

Pleuropulmonary Blastoma in Pediatric Lung Lesions.

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 (P < .0001). Among 177 children without a history of prenatal detection, 15 (8.7%) were classified as having a malignant tumor (type 1 PPB, n = 11; other PPB, n = 3; adenocarcinoma, n = 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 (P = .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; P < .0001] and 42.03 [95% CI, 3.51-995.6; P = .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.

A Cystic Renal Mass in the Setting of a Pneumothorax: More Than Meets the Eye?

DICER1 syndrome is a rare hereditary cancer predisposition syndrome that has relevance to pediatric urology providers due to its association with many various pediatric genitourinary malignancies. We describe the case of a pediatric patient who was eventually diagnosed with a pathogenic DICER1 germline variant after undergoing resection of a cystic nephroma and pleuropulmonary blastoma.

Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.

Classic biphasic pulmonary blastoma: a case report and review of the literature.

Pulmonary blastoma (PB) is a very rare malignant lung tumor consisting of classic biphasic PB, well-differentiated fetal adenocarcinoma, and pleuropulmonary blastoma. We herein present an unusual case involving a patient with classic biphasic PB who underwent right upper lobe resection and subsequent treatment. No standard treatment guidelines are available for PB because of its rarity. Our patient received nedaplatin plus paclitaxel as adjuvant chemotherapy. After disease recurrence, the patient received two cycles of etoposide-cisplatin and six cycles of pemetrexed, bevacizumab, and carboplatin. Because of severe adverse effects of the chemotherapy, the patient was finally administered anlotinib, a new oral multikinase inhibitor. Both the tumor size and the serum tumor marker concentration decreased. In conclusion, surgical excision is the treatment of choice for PB. Chemotherapy in the present case resulted in PB activity that was consistent with the literature. Targeted therapies including antiangiogenic agents should be considered as a new treatment option for this rare disease.

Extraluminal Use of a Pediatric Bronchial Blocker With Confirmation by Point-of-Care Ultrasound: A Case Report.

Lung isolation for pediatric thoracic surgery is especially challenging in a patient with chronic lung infection and need to protect the nonoperative lobes from the spread of infection during anesthesia and surgery. Typically, for pediatric thoracic surgery, a mainstem intubation or placement of an intraluminal bronchial blocker is sufficient for lung isolation. The patient whose case is reported here suffered from a pleuropulmonary blastoma compressing the left lower lobe bronchus and resultant chronic infection involving the left lower lobe. In this unusual situation, to isolate the chronic lung infection and to provide the needed adequate operative conditions, endobronchial intubation of the right, nonoperative lung and placement of an endobronchial blocker into the left lower lobe bronchus were performed. Intraoperative point-of-care ultrasound was then used to confirm ventilation of the right lung segments and absence of air movement in the left upper lobe.

Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings.

Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with DICER1 variants. We present two cases, a 2-year-old girl with upper respiratory tract symptoms as well as a 6-month-old girl sibling undergoing screening due to family history of malignancy. Imaging of the 2-year-old girl revealed a large mass filling the right hemithorax which was determined to be a type II PPB after pathological examination. Imaging of the 6-month-old sibling demonstrated a small cystic lesion in the posterior basal segment of the right lower lobe which was determined to be a type 1r PPB after pathological examination. The 2-year-old girl received adjuvant chemotherapy while the baby sister underwent resection alone and both are alive and well at 12 months and 7 months, respectively. Sequence analysis in both cases confirmed the same DICER1 variation, c.2437-2A>G (likely pathogenic), which has not been previously described in the literature.

Review of Early Postoperative Metrics for Children Undergoing Resection of Congenital Pulmonary Airway Malformations and Report of Pleuropulmonary Blastoma at a Single Institution.

PURPOSE: The purpose of this study is to describe a single institution's 11-year experience treating children with congenital pulmonary airway malformations (CPAMs) and pleuropulmonary blastoma (PPB). MATERIALS AND METHODS: An institutional database was sampled for all patients aged 0 to 18 years from January 1, 2005, to December 31, 2015. Patients with a pathologic diagnosis of CPAM or PPB during this period were reviewed. RESULTS: A total of 51 patients with a pathologic diagnosis of CPAM (n = 45; 88.2%) or PPB (n = 6; 11.8%) underwent surgical resection. Among patients treated for PPB, one death occurred approximately 13 months after diagnosis. Although four patients with PPB (four out of six; 66.7%) had radiographic indicators highly suggestive of malignancy prior to surgery, two had a preoperative diagnosis of CPAM (two out of six; 33.3%). Twenty-four patients (24 out of 45; 53.3%) with CPAM underwent resection after developing symptoms and 21 (21 out of 45; 46.7%) were symptomatic at the time of surgery. Mann-Whitney's tests revealed a statistically significant difference in postoperative length of stay (median: 6 vs. 3 days; p < 0.001) and days with thoracostomy tube in place (median 3 vs. 2 days; p = 0.003) for symptomatic versus asymptomatic patients, respectively. CONCLUSION: CPAM patients appear to recover faster from surgery, if performed before the onset of symptoms. There may be a benefit to waiting until at least 3 months of age to complete resection in the asymptomatic patient. A low threshold for resection should be maintained in patients where delineating CPAM from PPB is difficult.

Type II pleuropulmonary blastoma in a 2-year-old girl: a case report.

Pleuropulmonary blastoma (PPB) is a very rare, malignant aggressive primary lung tumor, which occurs mainly in children less than 5 years old. Due to its poor prognosis, it is aggressively treated with multimodal therapy including surgery and chemotherapy. We present a case of PPB in a 2-year-old girl who was brought to the pediatric clinic for fever, cough and respiratory distress. Imaging studies showed a heterogeneous solid-cystic mass (12∕9∕11 cm) in the upper right pulmonary lobe. Through right thoracotomy, a specimen was obtained, the histopathological and immunohistochemical features of the specimen being suggestive for type II PPB. Aggressive chemotherapy and right pneumonectomy resulted in control of disease, the patient being currently in complete remission four years after the diagnosis.

Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review.

BACKGROUND: Pleuroblastoma (PPB) is a rare pediatric tumor which, in 30% of cases, is associated with cystic nephroma. It has been recently linked to the DICER1 mutation as part of a predisposition syndrome for various tumors. However, if DICER 1 anomalies have been reported in patients with Wilms tumor (WT), to date, no cases of PPB, WT, and DICER1 mutations have been reported in the same patient. CASE PRESENTATION: We report the case of a 3-year-old patient, initially managed for metastatic WT. During his clinical course, the diagnosis of a PPB was made after detecting the DICER1 mutation and subsequent management was therefore modified. CONCLUSION: This case highlights that in case of simultaneous discovery of a renal tumor and a pulmonary lesion in a child, the DICER 1 mutations should be looked for as these could help adapt management and schedule the surgical procedures.

Blastoma pleuropulmonar: reporte de un caso / Pleuropulmonary blastoma: case report

El blastoma pleuropulmonar corresponde a una neoplasia primaria de pulmón, exclusiva de la edad pediátrica, poco frecuente y de características agresivas. La edad de diagnóstico varía entre 1 mes y 12 años. No se identifica una distinción de sexos. Se localiza en la pleura o el pulmón. Suele presentarse como dificultad respiratoria, con o sin neumotórax, dolor torácico y fiebre, por lo que es mal diagnosticada como neumonía. Radiológicamente, suele hallarse una masa de gran tamaño cercana a la pleura en la base pulmonar derecha sin broncograma aéreo. Cuenta con tres tipos histológicos: tipo I (quístico), tipo II (mixto), tipo III (sólido). Su tratamiento incluye resección y quimioterapia multimodal. El tipo I tiene un pronóstico favorable, pero los tipos II y III tienen mal pronóstico. Se presenta un caso de blastoma pleuropulmonar en una niña de 2 años, con énfasis en su diagnóstico clínico-radiológico.

Pleuropulmonary Blastoma corresponds to a malignant primary lung disorder, exclusive of pediatric age, infrequent and of aggressive characteristics. Age on diagnosis is 1 month-12 years. Rates per sex are equal. It can be found inside pleura or lungs. Respiratory distress associated or not with pneumothorax, chest pain and fever are classical clinical signs. These symptoms could be misdiagnosed as pneumonia. Radiologically, a large mass near the pleura at the base of the right lung without air bronchogram is its most common form. It has three histological types: type I (cystic), type II (mixed) and type III (solid). Its treatment requires tumor excision and multimodal chemotherapy. Pleuropulmonary Blastoma type I has good prognosis; type II and III variants have lower survival. We report a 2-year-old girl, pointing to the clinical-radiological diagnosis.