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A rare case of type III pleuropulmonary blastoma infiltrating the left heart in an 11-year-old girl.International Journal of Surgery Case... Feb 2024Pleuropulmonary blastoma (PPB) is a rare primary malignant tumor in the chest that mainly occurs in children <6 years of age. Vascular extensions are even rarer,...
INTRODUCTION AND IMPORTANCE
Pleuropulmonary blastoma (PPB) is a rare primary malignant tumor in the chest that mainly occurs in children <6 years of age. Vascular extensions are even rarer, approximately 3 % of types II and III PPB, and have fatal complications. The patients of reported cases who had tumor extension to the heart are younger than three years old, whereas in this case, we reported an 11-year-old girl who was of school age. This case report aims to describe a rare case of a type III Pleuropulmonary Blastoma infiltrating the left heart of a school-age girl.
CASE PRESENTATION
An 11-year-old girl presented at an emergency department with two months of progressive dyspnea with malnutrition. A fused mass was found in LA on an echocardiogram along with moderate MR, severe MS, and mild pericardial effusion. CT scan showed a massive pleural effusion with a solid mass in the left lung obstructing the left bronchial tree, accompanied by the expansion of the tumor mass into the left pulmonary vein and LA.
CLINICAL DISCUSSION
Total removal of the tumor was performed, aided by cardiopulmonary bypass. Type III PPB was confirmed histopathologically.
CONCLUSION
PPB is a rare, aggressive tumor that has three types. Various manifestations can occur in line with the presence of metastases. The treatment consists of aggressive surgery and chemotherapy. Because of its poor prognosis, prompt recognition of the involvement of the cardiac chamber and great vessels in type III PPB should be considered before surgery.
PubMed: 38232413
DOI: 10.1016/j.ijscr.2024.109237 -
JPMA. the Journal of the Pakistan... Dec 2023Intraocular medulloepithelioma is a rare, congenital tumour of the non-pigmented ciliary epithelium. It most frequently arises from the ciliary body but can also have...
Intraocular medulloepithelioma is a rare, congenital tumour of the non-pigmented ciliary epithelium. It most frequently arises from the ciliary body but can also have its origin from the retina, iris and optic nerve. The age when lesion first appears is typically around 2-10 years. Nearly 50-60% of patients having this lesion may also have secondary features such as cataract and neovascular glaucoma. Those with extrascleral medulloepithelioma are at risk for metastasis. Systemic correlation of the tumour with pleuropulmonary blastoma/DICER1 gene is reported in the literature. Here, we report a case of a 15 years old boy with one year history of right eye proptosis and painful red right eye along with decreased vision for one week. He was assessed and operated for cataract elsewhere three years back. The ophthalmology team managed him for endophthalmitis with intravenous antibiotics, followed by 2 sessions of cryotherapy and finally an enucleation of right eye was performed due to severe pain and no vision in the involved eye. His left eye, general physical examination and systemic evaluation were normal. Histopathology revealed the diagnosis of 'malignant teratoid medulloepithelioma'. Therefore, evaluation of systemic associations for DICER1 gene mutations was performed by the oncology team. For high risk feature of scleral invasion on histopathology, he was treated with chemotherapy. Since the tumour is of rare occurrence; an international expert team with vast research experience in PPB/DICER1 associated tumours was also contacted. He was registered in International PPB/DICER1 registry where a detailed central radiology and pathology review was performed. Genetic counseling and surveillance plan was also suggested by the international registry.
Topics: Humans; Male; Child; Child, Preschool; Adolescent; Ciliary Body; Neuroectodermal Tumors, Primitive; Pulmonary Blastoma; Neoplasms, Germ Cell and Embryonal; Cataract; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 38083935
DOI: 10.47391/JPMA.8253 -
Journal of Pediatric Surgery Mar 2024Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have...
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.
Topics: Child; Humans; Infant, Newborn; Infant; Child, Preschool; Adolescent; Cohort Studies; Retrospective Studies; Pulmonary Blastoma; Cystic Adenomatoid Malformation of Lung, Congenital; DNA; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 37989646
DOI: 10.1016/j.jpedsurg.2023.10.031 -
Surgical Case Reports Nov 2023Pleuropulmonary blastoma (PPB) is an extremely rare and malignant pediatric lung tumor. Purely cystic PPB has a more favorable prognosis than solid PPB, but may be...
BACKGROUND
Pleuropulmonary blastoma (PPB) is an extremely rare and malignant pediatric lung tumor. Purely cystic PPB has a more favorable prognosis than solid PPB, but may be difficult to distinguish from a certain type of "benign" congenital pulmonary airway malformation before and during surgery. The influence of tumor rupture on long life prognosis has not been clarified in detail.
CASE PRESENTATION
A 5-month-old boy underwent emergency transfer from another hospital due to a left thoracic cystic lesion and left pneumothorax detected on chest radiography performed for persistent wheeze and cough. Contrast-enhanced computed tomography of the chest revealed marked deviation of the mediastinum to the right due to a giant cystic lesion and pneumothorax. Thoracotomy was performed on hospital day 2. A cystic lesion had developed from the distal alveolar region of lower lobe of the left lung and the tumor showed a tiny adhesion to the left diaphragm and a tiny rupture near the adhesion. Partial lung excision including the cyst and scraping of the adhesion were performed. Histopathological investigations revealed immature blast cell-like mesenchymal cells and differentiated striated muscle cells in a dense cambium layer were found under the epithelium of the cystic lesion. Type I PPB was diagnosed.
CONCLUSIONS
Surgery should be performed with the possibility of type I PPB in mind when an extrapulmonary cystic lung lesion is found. Since issues such as the pathogenesis and long-term prognosis of ruptured cases remain unclear, continued careful follow-up of this case will be required.
PubMed: 37930461
DOI: 10.1186/s40792-023-01777-7 -
The Clinical Respiratory Journal Nov 2023Classic biphasic pulmonary blastoma (CBPB), a distinct type of lung cancer, is a dual-phasic tumor characterized by the co-existence of low-grade fetal adenocarcinoma... (Review)
Review
Classic biphasic pulmonary blastoma (CBPB), a distinct type of lung cancer, is a dual-phasic tumor characterized by the co-existence of low-grade fetal adenocarcinoma and primitive mesenchymal stroma. Accounting for less than 0.1% of surgically removed lung cancers, CBPB commonly presents in individuals during their fourth to fifth decades of life, with smoking as a significant risk factor. The optimal management strategy entails surgical resection, supplemented by chemotherapy to improve prognosis. The frontline chemotherapeutic agents typically include platinum agents and etoposide, with preoperative neoadjuvant chemotherapy potentially enabling operability for initially inoperable cases. In recent years, targeted therapies, such as antiangiogenic agents, have emerged as promising new treatment strategies for CBPB. For patients exhibiting brain metastases or deemed inoperable, radiation therapy proves to be a crucial therapeutic component. CBPB prognosis is adversely affected by factors such as early metastasis, tumor size exceeding 5 cm, and tumor recurrence. In this regard, serological markers have been identified as valuable prognostic indicators. To exemplify, we recount the case of a 44-year-old female patient with CBPB, wherein serum lactate dehydrogenase levels showed significant diagnostic value. This report further incorporates a comprehensive review of CBPB literature from the past 22 years.
Topics: Female; Humans; Adult; Pulmonary Blastoma; Neoplasm Recurrence, Local; Lung Neoplasms; Etoposide; Prognosis
PubMed: 37772674
DOI: 10.1111/crj.13701 -
Radiology Case Reports Oct 2023Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation characterized by failure of bronchial development and localized glandular...
Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation characterized by failure of bronchial development and localized glandular overgrowth. Previously known as Congenital Cystic Adenoid Malformation (CCAM), CPAM is classified into 5 types, from type 0 to type IV, depending upon the origin of pulmonary areas of the lung, cyst size, and cyst appearance. CPAM is a rare congenital anomaly typically diagnosed prenatally in ultrasound. However, few cases are diagnosed in childhood and even fewer in adulthood. CPAM can be differentiated from pulmonary sequestration based on the origin of the arterial supply; the former has its arterial supply from the pulmonary artery, whereas pulmonary sequestration has its arterial supply from the systemic circulation. Another differential diagnosis of CPAM includes congenital bronchogenic cyst, congenital lobar emphysema, pleuropulmonary blastoma, congenital cystic bronchiectasis, and congenital diaphragmatic hernia. The most common presentation is recurrent chest infection and chest pain, whereas other presentation includes pneumothorax and hemoptysis. Here, we present a case of a 6-year-old child with recurrent episodes of fever and cough diagnosed as a type II CPAM based on computed tomography findings.
PubMed: 37539443
DOI: 10.1016/j.radcr.2023.07.018 -
Indian Journal of Pathology &... 2023Here we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC)...
Here we intend to document a rare case of PPB type III in a 2-year male presenting with an extensive tumor occupying the right hemithorax with immunohistochemical (IHC) study. Pleuropulmonary blastoma (PPB) is a rare variably aggressive, dysodontogenetic, childhood primary intrathoracic malignancy which in up to 25% of cases can be extrapulmonary with attachment to the parietal pleura. It is found in pediatric population under 5 years of age. It was initially proposed as a distinct entity by Manivel et al. in 1988. PPB is a proliferation of primitive mesenchymal cells that initially form air-filled cysts lined by benign-appearing epithelium (type I, cystic). Later on, the mesenchymal cells outgrow the cysts with formation of focal solid areas (type II, solid and cystic) and finally, mainly solid mass (type III, solid PPB).
Topics: Humans; Male; Child; Lung Neoplasms; Pleural Neoplasms; Pulmonary Blastoma; Cysts
PubMed: 37530358
DOI: 10.4103/ijpm.ijpm_781_21 -
International Journal of Surgery Case... Jul 2023Pleuropulmonary blastoma is a rare, aggressive intrathoracic neoplasm of early childhood.
INTRODUCTION
Pleuropulmonary blastoma is a rare, aggressive intrathoracic neoplasm of early childhood.
CASE PRESENTATION
We report a case of a 4-month-old male baby who has presented with recurrent respiratory infections since birth. A surgical team was consulted due to abnormal opacification observed on a chest X-ray. An enhanced-contrast CT scan of the chest revealed a heterogenous, well-delineated mass measuring about 3,8 × 6 cm in the posterior mediastinum. A left posterolateral thoracotomy was performed. The mass was separated from the lung parenchyma, located behind the parietal pleura, and adherent to the chest wall and superior ribs. The lesion was totally removed. Histologically, the lesion was a pleuropulmonary blastoma type III. Currently, the patient is on a 6-month course of chemotherapy.
CLINICAL DISCUSSION
The aggressive, insidious behavior of PPB requires a high index of suspicion for diagnosis. The clinical manifestations and imaging modalities are atypical and nonspecific. However, PPB should be kept in mind when a huge solid or cystic mass is observed in the lung field on imaging.
CONCLUSION
Extrapulmonary pleuropulmonary blastoma is a very rare entity characterized by highly aggressive behavior and a poor prognosis. Early excision of thoracic cystic lesions in children is warranted regardless of the symptoms to avoid future mishaps.
PubMed: 37423144
DOI: 10.1016/j.ijscr.2023.108461 -
Pathologica Jun 2023Among non-small cell lung cancers (NSCLCs), sarcomatoid carcinomas account for 3%. They are rare tumours with a poor prognosis, classified into three subgroups, namely...
Among non-small cell lung cancers (NSCLCs), sarcomatoid carcinomas account for 3%. They are rare tumours with a poor prognosis, classified into three subgroups, namely pleomorphic carcinoma, pulmonary blastoma and carcinosarcoma. In the 5th edition of WHO Classification of Thoracic Tumours more space is given to SMARC4-deficient lung cancers. Although studies on SMARCA4-deficient lung tumours are limited, a small percentage of SMARCA4 loss is present within NSCLCs. This finding is clinically relevant, as the loss of the SMARCA4 gene is associated with a worse prognosis. In our study, we analysed the presence of the main catalytic subunit of the SMARCA4 gene, the BRG1 protein, in 60 sarcomatoid lung tumours. The results of our study show that 5.3% of sarcomatoid carcinomas have BRG1-loss in tumour cells, proving that a non-negligible amount of lung sarcomatoid carcinomas are SMARCA4-deficient. These data open the debate on the necessity of including the detection of SMARCA4 within a standardised immunohistochemical panel.
Topics: Humans; Diagnosis, Differential; Neoplasms, Glandular and Epithelial; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Carcinoma; Lung; DNA Helicases; Nuclear Proteins; Transcription Factors
PubMed: 37387441
DOI: 10.32074/1591-951X-847 -
Children (Basel, Switzerland) May 2023Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other... (Review)
Review
Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other lung neoplasms. A review of the literature, together with the first European case, are herein reported. A systematic and manual search of the literature using the keyword "fetal lung interstitial tumor" was conducted on PUBMED, Scopus, and SCIE (Web of Science). Following the PRISMA guidelines, 12 articles were retrieved which describe a total of 21 cases of FLIT, and a new European case is presented. A prenatal diagnosis was reported in only 3 out of 22 (13%) cases. The mean age at surgery was 31 days of life (1-150); a lobectomy was performed in most of the cases. No complications or recurrence of disease were reported at a mean follow-up of 49 months. FLIT is rarely diagnosed during pregnancy, may present at birth with different levels of respiratory distress, and requires prompt surgical resection. Histology and immunohistochemistry allow for the differentiation of FLIT from cPAM and other lung tumors with poor prognosis, such as pleuropulmonary blastoma, congenital peri-bronchial myofibroblastic tumor, inflammatory myofibroblastic tumor, and congenital or infantile fibrosarcoma.
PubMed: 37238376
DOI: 10.3390/children10050828