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Cureus Feb 2024Pleural effusion in the pediatric population is an abnormal pathology characterized by the accumulation of fluids between the parietal and visceral pleura. The etiology...
Pleural effusion in the pediatric population is an abnormal pathology characterized by the accumulation of fluids between the parietal and visceral pleura. The etiology of this excessive fluid accumulation can be attributed to both infectious and non-infectious factors. Notably, stands out as the predominant infectious agent responsible for this condition. Non-infectious causative factors encompass hematolymphoid malignancies, congestive heart failure, hemothorax, hypoalbuminemia, and iatrogenic causes. Among the hematolymphoid malignancies, lymphoma emerges as the most prevalent malignancy associated with pleural effusion. It is followed by T-cell lymphoblastic leukemia, germ cell tumor, neurogenic tumor, chest wall and pulmonary malignancy, carcinoid tumor, pleuro-pulmonary blastoma, and Askin's tumor, among others. Malignant pleural effusion is predominantly linked to T-cell lymphoblastic malignancies. In the context of acute lymphoblastic leukemia (ALL), cases where T-cell presentation is accompanied by leukemic pleural effusion are commonly associated with either a mediastinal mass or significant lymphadenopathy. Here, we describe a case of a four-year-old male child who exhibited a brief history of febrile illness. Notably, this case was characterized by isolated pleural effusion, devoid of any mediastinal mass or lymphadenopathy. Pathological investigations of pleural fluid analysis revealed the presence of malignant cells, facilitating an expedited diagnosis.
PubMed: 38496208
DOI: 10.7759/cureus.54232 -
Zhongguo Fei Ai Za Zhi = Chinese... Feb 2024Pulmonary sarcomatoid carcinoma (PSC) is a rare and highly malignant tumor, which includes the following five pathologic types: pleomorphic carcinoma, spindle cell...
Pulmonary sarcomatoid carcinoma (PSC) is a rare and highly malignant tumor, which includes the following five pathologic types: pleomorphic carcinoma, spindle cell carcinoma, giant cell carcinoma, carcinosarcoma and pulmonary blastoma. The onset of PSC is occult with non-specific clinical symptoms and signs. The clinical manifestations include irritating cough, bloody sputum, dyspnea, chest pain and so on, which are closely related to the growth and invasion site of the tumor. PSC tends to metastasize early, so most patients are already in local advanced stage or advanced stage with a median survival of 9 months at the time of hospital visit. A patient with primary PSC which led to 90% stenosis in central airway was treated by combined method of vascular and tracheoscopic intervention in our respiratory center. This treatment prolonged the patient's survival time and got a satisfactory effect at 19-month follow-up after surgery. Herein we report the case for clinical reference. .
Topics: Humans; Lung Neoplasms; Prognosis; Carcinoma; Carcinosarcoma; Lung
PubMed: 38453449
DOI: 10.3779/j.issn.1009-3419.2024.102.04 -
Nuklearmedizin. Nuclear Medicine Feb 2024
PubMed: 38378023
DOI: 10.1055/a-2265-4049 -
Andes Pediatrica : Revista Chilena de... Dec 2023Pleuropulmonary blastoma (PPB) is the most common pediatric malignant primary lung tumor. It's associated with the DICER1 gene pathogenic germline variants. Antenatal...
UNLABELLED
Pleuropulmonary blastoma (PPB) is the most common pediatric malignant primary lung tumor. It's associated with the DICER1 gene pathogenic germline variants. Antenatal presentation is infrequent and poses a challenge in the differential diagnosis of congenital pulmonary airway malformation (CPAM).
OBJECTIVE
to report a case of unusual presentation of PPB associated with DICER1 syndrome and to describe the difficulty in differentiating it from CPAM.
CLINICAL CASE
Male patient with prenatal diagnosis of hypervascular left lung lesion, with mediastinal shift and progressive growth, initially interpreted as CPAM. He was born at 38 weeks, requiring transitory treatment with positive pressure due to ventilatory impairment. A CT scan with contrast showed a large multilocular cystic mass containing air causing mass effect, requiring open left upper lobectomy. Histology results were compatible with type I PPB, with negative margins, and positive genetic study for DICER1 syndrome. Seven weeks post-resection, an aerial image was detected in the upper left side of the chest, with progressive growth, requiring a new tumor resection and upper segmentectomy, with biopsy corresponding to recurrence of type I PPB with negative margins. He received adjuvant treatment with chemotherapy, with follow-up for 2 years, remaining asymptomatic, without recurrence, and with negative screening for other neoplasms associated with DICER1 syndrome. Among the family history, the mother had papillary thyroid cancer and tested positive for the mutation.
CONCLUSION
PPB is a rare cancer, difficult to distinguish from CPAM, especially in its antenatal presentation. Nowing its association with DICER1 syndrome and performing a genetic study are key to the early detection of BPP and the search for other tumors associated with the syndrome.
Topics: Female; Humans; Male; Pregnancy; DEAD-box RNA Helicases; Diagnosis, Differential; Lung; Lung Neoplasms; Pulmonary Blastoma; Ribonuclease III; Infant, Newborn
PubMed: 38329309
DOI: 10.32641/andespediatr.v94i6.4663 -
Nuklearmedizin. Nuclear Medicine Feb 2024
PubMed: 38325397
DOI: 10.1055/a-2237-8775 -
Lung Cancer (Amsterdam, Netherlands) Mar 2024Pulmonary blastomas (PB) are an extremely rare type of lung cancer. Currently, no standard treatment exists for PB. Immunotherapy with checkpoint inhibitors and... (Review)
Review
Pulmonary blastomas (PB) are an extremely rare type of lung cancer. Currently, no standard treatment exists for PB. Immunotherapy with checkpoint inhibitors and anti-angiogenesis treatments has been an effective method for lung cancer; however, studies on PB treatment are lacking. Herein, we present a case report of successful conversion therapy with immunotherapy and targeted therapy for PB. After receiving treatment with a PD-1 inhibitor (penpulimab) and a multi-target tyrosine kinase inhibitor (anlotinib) treatment, the patient showed an impressive response and underwent a successful operation. We also summarized and reviewed literature reports on PubMed from January 1, 2000, to December 31, 2022, using the keyword "pulmonary blastoma", discussing the efficacy and specifics of chemotherapy and radiotherapy. Immunotherapy, in combination with targeted therapy, should be considered a potential therapeutic strategy for PB.
Topics: Humans; Pulmonary Blastoma; Lung Neoplasms; Immunotherapy; Immune Checkpoint Inhibitors; Protein Kinase Inhibitors
PubMed: 38280290
DOI: 10.1016/j.lungcan.2024.107476 -
Turk Patoloji Dergisi 2024Pulmonary blastoma (PB) is an exceedingly rare and aggressive malignant lung neoplasm that has distinct biphasic morphology. In this report, we document rare...
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.
Topics: Female; Humans; Middle Aged; Hemoptysis; Lung; Lung Neoplasms; N-Myc Proto-Oncogene Protein; Pulmonary Blastoma
PubMed: 38235566
DOI: 10.5146/tjpath.2023.01597 -
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 -
Radiology Dec 2023A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline mutation was being monitored by physicians at a multidisciplinary...
A 7-year-old boy with a history of pleuropulmonary blastoma after resection 6 years prior and germline mutation was being monitored by physicians at a multidisciplinary genetic predisposition clinic. He demonstrated no evidence of recurrent pleuropulmonary blastoma, and his renal US, chest radiographic, and ocular screening examination results remained normal. Per age-directed screening guidelines, he underwent thyroid US. He had no signs or symptoms of hyper- or hypothyroidism. Physical examination was notable for the absence of thyromegaly or palpable nodule. US at 12-month follow-up showed no change in size or appearance of the left lobe (not shown). However, at this time, the Thyroid Imaging Reporting and Data System (TI-RADS) classification scheme was applied to the stable left lobe finding. The findings were discussed at a multidisciplinary thyroid nodule conference, and the decision was made to bring the patient back for a short-term follow-up for limited unenhanced MRI without sedation. A diagnosis was made based on the follow-up imaging findings.
Topics: Male; Humans; Child; Pulmonary Blastoma; Thyroid Nodule; Germ-Line Mutation; Thorax; Ribonuclease III; DEAD-box RNA Helicases
PubMed: 38112545
DOI: 10.1148/radiol.222365 -
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