Pulmonary blastoma with a good prognosis: a case report and review of the literature.

Pulmonary blastoma (PB) is a rare, highly malignant tumor prone to distant metastasis and recurrence, and the prognosis of these patients is often poor. We report a case of metastatic PB with a good prognosis with the aim of providing data to support a clinical diagnosis and treatment. In December 2015, a 43-year-old male patient was admitted to our hospital because of a cough and blood-stained sputum. Positron emission-computed tomography showed massive high-density imaging in the lower lobe of the right lung, with a maximum cross-section of 76 × 58 mm. Thoracoscopic-assisted right lower lobectomy with lymph node dissection was performed. After 1 month, computed tomography showed a high possibility of metastasis. The patient then received docetaxel and cisplatin chemotherapy for a total of six courses. After chemotherapy, enhanced computed tomography showed considerable absorption of pleural effusion, and a left lobe pulmonary nodule was not detected. The postoperative pathological diagnosis was PB, and epithelial and mesenchymal differentiation components were observed. The patient continued to visit the hospital regularly for re-examination and imaging examinations. Currently, no signs of recurrence or distant metastasis have been detected.

Paraplegia after Pneumonectomy - A Rare Complication.

ABSTRACT: Cardiac metastases of lung cancers are common and are associated with serious complications. Locally aggressive lung tumors have the potential to extend into the left atrium via pulmonary veins, which can further complicate by embolizing into the systemic circulation. Pulmonary blastoma (PB) is one of the rare forms of primary lung malignancy and is locally aggressive. We report a rare case of 30 years old male patient who underwent left pneumonectomy for PB. During resection, the tumor was embolized into the descending thoracic aorta, leading to an acute circulatory compromise of both the lower limbs.

Adult Pulmonary Blastoma: A Case Report with Spectrum of Rare Manifestations.

Pulmonary blastoma (PB) is an exceedingly rare and aggressive malignant lung neoplasm that has distinct biphasic morphology. In this report, we document rare manifestations and molecular alterations in PB. A 59-year-old non-smoker female, presented with cough and hemoptysis for 4 months. The high-resolution computed tomography chest scan showed a 3.5x2.7 cm mass in the basal segment of the left lung. Positron emission tomography and computed tomography revealed a fluorodeoxyglucose avid lobulated mass in the superior segment of the lower lobe of the left lung. On core biopsy, the diagnosis of pleomorphic carcinoma in a background of adenocarcinoma was made. A definite diagnosis of pulmonary blastoma was established on the left lung lobectomy specimen based on morphological and immunohistochemical findings. Post-surgical biopsy from the scalp swelling showed metastatic deposits. On Next Generation Sequencing (NGS), in addition to conventional CTNNB1 gene mutation, new pathogenic MYCN and ATM gene mutations were detected. Post-chemotherapy, the patient was doing well after 10 months of close follow-up. PB exhibited rare associations in the form of non-smoker status, scalp metastasis, and MYCN and ATM gene mutations on NGS in addition to conventional CTNNB1 gene mutation. Large cohort studies are required to discover the incidence, significance and therapeutic implications of these co-existing pathogenic molecular alterations in PB.

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

BACKGROUND: Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs, a diagnosis with important clinical implications for patients and their families. To gain insight in potential misdiagnoses, we systematically assessed somatic DICER1 gene mutation status in an unselected, retrospective cohort of patients with a CPAM diagnosis. METHODS: In the Amsterdam University Medical Center (the Netherlands), it has been standard policy to resect CPAM lesions. We included all consecutive cases of children (age 0-18 years) with a diagnosis of CPAM between 2007 and 2017 at this center. Clinical and radiographic features were reviewed, and DICER1 gene sequencing was performed on DNA retrieved from CPAM tissue samples. RESULTS: Twenty-eight patients with a surgically removed CPAM were included. CPAM type 1 and type 2 were the most common subtypes (n = 12 and n = 13). For 21 patients a chest CT scan was available for reassessment by two pediatric radiologists. In 9 patients (9/21, 43%) the CPAM subtype scored by the radiologists did not correspond with the subtype given at pathology assessment. No pathogenic mutations and no copy number variations of the DICER1 gene were found in the DNA extracted from CPAM tissue (0/28). CONCLUSIONS: Our findings suggest that the initial CPAM diagnoses were correct. These findings should be validated through larger studies to draw conclusions regarding whether systematic DICER1 genetic testing is required in children with a pathological confirmed diagnosis of CPAM or not. LEVEL OF EVIDENCE: Level IV.

Scalp metastasis of pulmonary blastoma-a rare entity: Cytomorphology with differential diagnoses.

BACKGROUND: Pulmonary blastomas are exceptionally rare tumours. These tumours behave aggressively, with a propensity to metastasise to the brain and mediastinum. A definitive diagnosis of pulmonary blastoma is challenging to obtain on cytomorphology alone. CASE REPORT: We herein describe a case of a 59-year-old female who presented with a scalp lesion. The patient was diagnosed to have pulmonary blastoma on histopathology of left lower lobectomy specimen. Fine needle aspiration cytology was done from this recently developed scalp swelling. Cytomorphology supplemented with immunocytochemistry on cell block confirmed the diagnosis of a metastatic pulmonary blastoma. CONCLUSIONS: In a known case of primary pulmonary blastoma, any newly developing lesion at any anatomical site should be carefully evaluated for metastasis. If metastasis is needled and no previous histology is available, it carries a reasonable risk of erroneous interpretation. It is essential not to overlook often subtle biphasic malignant cells on the smears, which otherwise resemble other poorly differentiated tumours. Immunocytochemistry coupled with morphology is confirmatory.

Pulmonary blastoma that was first diagnosed as dedifferentiated chondrosarcoma using medical thoracoscopy: A case report.

RATIONALE: Pulmonary blastoma is an extremely rare and highly aggressive tumor. Only a few hundred cases of pulmonary blastoma have been reported. In other cases, a definitive diagnosis is often made through surgical resection. The use of preoperative histopathological sampling in diagnosing was of limited value because of the variety of pulmonary blastoma histology. And there was no literature that the first biopsy was attempted with medical thoracoscopy for diagnosis. PATIENT CONCERNS: A 65-year-old man presented to our hospital with pleural effusion and lung mass. DIAGNOSES: The patient was initially diagnosed with dedifferentiated chondrosarcoma by medical thoracoscopic biopsy but the final diagnosis was pulmonary blastoma through bilobectomy. INTERVENTIONS: Medical thoracoscopy, and video-assisted thoracoscopic surgery (bilobectomy) followed by adjuvant chemotherapy. OUTCOMES: After surgical resection of the tumor, adjuvant chemotherapy has been performed 5 cycles at 3 weeks intervals, and there was no evidence of recurrence on follow-up computed tomography performed 4 months after surgery. LESSONS: Medical thoracoscopy is useful for the diagnosis of indeterminate pleural effusion; however, caution is needed when confirming rare malignancies, such as pulmonary blastoma. Although surgical resection is the treatment of choice, appropriate adjuvant chemotherapy to improve the prognosis may be necessary if there is pleural metastasis.

Treatment and prognosis of pleuropulmonary blastoma: A single-center report of 31 cases.

OBJECTIVES: Pleuropulmonary blastoma (PPB) is a very rare and highly aggressive neoplasm occurring in children, mostly under 6 years of age. We assessed the clinical characteristics, treatment modalities, treatment outcomes, and prognostic factors affecting survival in patients with PPB treated at our institution over a 10-year period to improve the prognosis. METHODS: From November 2008 to November 2019, 31 children (21 boys and 10 girls) with a median age of 30 months (ranging, 22 days to 54 months) were treated at our institution. Here we describe the patient characteristics, treatment modalities, and treatment outcomes. The Kaplan-Meier method was used to estimate the progression-free survival (PFS) and overall survival (OS). Log-rank test was performed for comparison between groups. RESULTS: Three children were lost to follow-up and two were dead due to postoperative complications. Of the 26 patients included in the follow-up, 16 PPB patients displayed tumor-free survival. The 5-year PFS and OS were 60.4% and 60.1% respectively. By stratified statistical analysis, the 5-year PFS and OS of type I PPB were 100%, while those of type III PPB were 43.7% and 43%, respectively. The 5-year PFS and OS of complete tumor resection were 76.5% and 75.6%, respectively, while those with tumor residue were 31.3%. The 5-year PFS and OS combined with chemotherapy were 62.2% and 61.6%, respectively, while those without chemotherapy were 0%. CONCLUSIONS: PPB is an aggressive neoplasm. The main factors related to the prognosis of PPB are pathological type, tumor resection degree, and postoperative adjuvant therapy.

[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.

[Clinical analysis of primary lung tumors in 56 children].

Objective: To investigate the clinical manifestation, pathological type, treatment and prognosis of primary lung tumors in children. Methods: We collected and retrospectively analyzed the clinical manifestation, pathological type, therapeutic method and prognosis of 56 primary lung tumors patients who diagnosed from 2009 to 2019 in Guangzhou Women and Children Medical Center. Results: There were 56 patients identified as the primary lung tumors, including pleuropulmonary blastoma (PPB, n=28), pulmonary inflammatory myofibroblastic tumor(IMT, n=20), mucoepidermoid carcinoma(n=6), infantile hemangioma (n=1), pulmonary sclerosing hermangioma(n=1). Respiratory symptoms were the most manifestation at the time of diagnosis including 26 patients with cough, 3 with hemoptysis, and 17 with dyspnea. Others included 15 with fever, 3 with chest pain, and 2 with epigastiric pain. The primary tumor of 18 cases were located in the lower lobe of left lung, 11 cases in the lower lobe of right lung, 10 cases in the upper lobe of left lung, 7 cases in the upper lobe of right lung, 6 cases in the middle lobe of right lung, and 4 cases in pulmonary hilum. Among the 56 patients, 41 patients underwent thoracotomy, 13 thoracoscopy, and 2 fiberoptic bronchoscopy. Five patients with type Ⅰ PPB were still alive at the end of follow-up without chemotherapy. Among 5 patients with type Ⅱ PPB, 2 patients without chemotherapy died after recurrence, 3 patients suffered postoperative chemotherapy were still alive at the end of follow-up. All of the 18 patients with type Ⅲ PPB underwent postoperative chemotherapy with IVADo regimen. Recurrence occurred in 6 cases, distant metastasis occurred in 3 cases, and cancer-related deaths occurred in 8 cases. For 20 patients with IMT, recurrence occurred in 5 of 13 patients experienced wedge resection, 1 of 6 patients experienced lobectomy and 1 of 6 underwent fiberoptic bronchoscopy, respectively. For 6 mucoepidermoid carcinoma patients, lobectomy was carried on 5 patients, wedge resection on 1 patient, all of them were still alive at the end of follow-up. One hermangioma patient underwent fiberoptic bronchoscopy and other 1 sclerosing hermangioma patient underwent wedge resection, both of them were still alive at the end of follow-up. Conclusions: The clinical manifestations of the primary lung tumors in children are nonspecific. Complete resection and achieving negative marginattribute to the excellent outcome. Adjunctive treatment such as chemotherapy is necessary for patients with type Ⅱ and type Ⅲ PPB.

Pulmonary blastoma in a pregnant woman: a case report and brief review of the literature.

BACKGROUND: Pulmonary blastoma (PB) comprises a rare heterogeneous group of lung tumours typically containing immature epithelial and mesenchymal structures that imitate the embryonic lung tissue and extremely rarely occurs during pregnancy. Although cough and haemoptysis are the most common PB symptoms, they usually indicate other serious pregnancy-related complications. CASE PRESENTATION: The article presents the unusual case of a 22-year-old pregnant woman diagnosed with PB during pregnancy. CONCLUSIONS: PB is characterized by poor prognosis and patients' outcome relies on a rapid diagnosis. Surgery remains the most common and effective treatment. Due to the extreme rarity, the literature contains only single mentions of PB in pregnancy, thus its impact on the course of pregnancy and the developing fetus remains unknown.

Clinical analysis of primary lung tumors in 56 children / 中华肿瘤杂志

Objective: To investigate the clinical manifestation, pathological type, treatment and prognosis of primary lung tumors in children. Methods: We collected and retrospectively analyzed the clinical manifestation, pathological type, therapeutic method and prognosis of 56 primary lung tumors patients who diagnosed from 2009 to 2019 in Guangzhou Women and Children Medical Center. Results: There were 56 patients identified as the primary lung tumors, including pleuropulmonary blastoma (PPB, n=28), pulmonary inflammatory myofibroblastic tumor(IMT, n=20), mucoepidermoid carcinoma(n=6), infantile hemangioma (n=1), pulmonary sclerosing hermangioma(n=1). Respiratory symptoms were the most manifestation at the time of diagnosis including 26 patients with cough, 3 with hemoptysis, and 17 with dyspnea. Others included 15 with fever, 3 with chest pain, and 2 with epigastiric pain. The primary tumor of 18 cases were located in the lower lobe of left lung, 11 cases in the lower lobe of right lung, 10 cases in the upper lobe of left lung, 7 cases in the upper lobe of right lung, 6 cases in the middle lobe of right lung, and 4 cases in pulmonary hilum. Among the 56 patients, 41 patients underwent thoracotomy, 13 thoracoscopy, and 2 fiberoptic bronchoscopy. Five patients with type Ⅰ PPB were still alive at the end of follow-up without chemotherapy. Among 5 patients with type Ⅱ PPB, 2 patients without chemotherapy died after recurrence, 3 patients suffered postoperative chemotherapy were still alive at the end of follow-up. All of the 18 patients with type Ⅲ PPB underwent postoperative chemotherapy with IVADo regimen. Recurrence occurred in 6 cases, distant metastasis occurred in 3 cases, and cancer-related deaths occurred in 8 cases. For 20 patients with IMT, recurrence occurred in 5 of 13 patients experienced wedge resection, 1 of 6 patients experienced lobectomy and 1 of 6 underwent fiberoptic bronchoscopy, respectively. For 6 mucoepidermoid carcinoma patients, lobectomy was carried on 5 patients, wedge resection on 1 patient, all of them were still alive at the end of follow-up. One hermangioma patient underwent fiberoptic bronchoscopy and other 1 sclerosing hermangioma patient underwent wedge resection, both of them were still alive at the end of follow-up. Conclusions: The clinical manifestations of the primary lung tumors in children are nonspecific. Complete resection and achieving negative marginattribute to the excellent outcome. Adjunctive treatment such as chemotherapy is necessary for patients with type Ⅱ and type Ⅲ PPB.

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.

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.

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.

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.

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.

Epidemiological features and survival outcomes in patients with malignant pulmonary blastoma: a US population-based analysis.

BACKGROUND: Pulmonary blastoma (PB) is a rare lung primary malignancy with poorly understood risk factors and prognosis. We sought to investigate the epidemiologic features and long-term outcomes of PB. METHODS: A population-based cohort study was conducted to quantify the death risk of PB patients. All subjects diagnosed with malignant PB from 1988 to 2016 were screened from the Surveillance, Epidemiology and End Results database. Cox regression model of all-cause death and competing risk analysis of cause-specific death were performed. RESULTS: We identified 177 PB patients with a median survival of 108 months. The 5 and 10-year survival rate in all PB patients were 58.2 and 48.5%, as well as the 5 and 10-year disease-specific mortality were 33.5 and 38.6%. No sex or race disparities in incidence and prognosis was observed. The death risk of PB was significantly associated with age at diagnosis, clinical stage, histologic subtype and surgery treatment (p<0.01). On multivariable regression analyses, older age, regional stage and no surgery predicted higher risk of both all-cause and disease-specific death in PB patients. CONCLUSION: We described the epidemiological characteristics of PB and identified its prognostic factors that were independently associated with worse clinical outcome.