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The Journal of International Medical... Jun 2024Pulmonary 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... (Review)
Review
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.
Topics: Humans; Male; Adult; Pulmonary Blastoma; Lung Neoplasms; Prognosis; Tomography, X-Ray Computed; Positron Emission Tomography Computed Tomography; Cisplatin; Pneumonectomy; Docetaxel
PubMed: 38835107
DOI: 10.1177/03000605241254778 -
Problemy Endokrinologii Oct 2023DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a... (Review)
Review
DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations - multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non-endocrine formations - pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.
Topics: Humans; Ribonuclease III; DEAD-box RNA Helicases; Mutation; Female; Thyroid Neoplasms; Goiter, Nodular; Pulmonary Blastoma
PubMed: 38796764
DOI: 10.14341/probl13383 -
Annals of Cardiac Anaesthesia Jan 2024Cardiac metastases of lung cancers are common and are associated with serious complications. Locally aggressive lung tumors have the potential to extend into the left...
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.
Topics: Humans; Male; Pneumonectomy; Adult; Paraplegia; Lung Neoplasms; Postoperative Complications; Pulmonary Blastoma; Aorta, Thoracic
PubMed: 38722129
DOI: 10.4103/aca.aca_115_23 -
Translational Pediatrics Apr 2024-associated tumors are heterogeneous and affect several organs. -associated primary intracranial sarcoma is associated with histone H3 trimethylation on lysine 27...
BACKGROUND
-associated tumors are heterogeneous and affect several organs. -associated primary intracranial sarcoma is associated with histone H3 trimethylation on lysine 27 (H3K27me3) loss in nucleus by immunohistochemistry.
METHODS
We explored the H3K27me3 immunostaining pattern in other -associated tumors. Twelve tumors from eleven patients with confirmed mutations (sporadic and germline) data from a pancancer next-generation sequencing panel, and four tumors of pleuropulmonary blastoma (PPB) were retrieved from our database and stained with anti-H3K27me3 antibody.
RESULTS
The H3K27me3 expression in the nucleus showed heterogeneous mosaic loss in neoplastic Sertoli cell components in three of the five cases of moderately to poorly differentiated Sertoli-Leydig cell tumors. Among two tumors of -associated primary intracranial sarcoma, one showed complete loss of H3K27me3 in all neoplastic cells, whereas the other showed mosaic loss in the sarcomatous spindle cells. One -associated tumor with epithelial and mesenchymal differentiation, including pulmonary blastoma and PPB, showed mosaic loss of glandular epithelial and mesenchymal components. Four cases of type II PPB and a single case of type III PPB showed a similar mosaic loss of H3K27me3 staining restricted to large spindle cell components. All other components in all tumors-including Leydig cells; the areas of epithelial, cartilaginous, and rhabdomyomatous differentiation; and all cells of the remaining three cases (one papillary thyroid carcinoma and two cases of PPB type I)-demonstrated retained H3K27me3 staining.
CONCLUSIONS
H3K27me3 expression is not universally lost in -associated tumors and thus is not predictive of mutation status. The mosaic regional loss of H3K27me3 immunostaining is consistent in PPB type II and III, which can be a helpful diagnostic marker for these tumors and suggests a similarity to -associated intracranial sarcoma.
PubMed: 38715664
DOI: 10.21037/tp-24-61 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2024Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor,... (Review)
Review
Pulmonary tumors in childhood are rare, but the majority are malignant. The histopathologic spectrum is quite diverse, including inflammatory myofibroblastic tumor, hamartoma, primary pulmonary paraganglioma, carcinoid tumor, mucoepidermoid carcinoma, pleuropulmonary blastoma, adenocarcinoma, squamous cell carcinoma, and sarcomas. Nonspecific clinical and radiological findings result in late and incorrect diagnoses. Although surgical resection is the initial and proper treatment method, additional adjuvant therapy is dependent on both tumor stage and histopathologic type.
PubMed: 38584790
DOI: 10.5606/tgkdc.dergisi.2024.25863 -
Thorax Jun 2024Pleuropulmonary blastoma (PPB), the hallmark tumour associated with -related tumour predisposition, is characterised by an age-related progression from a cystic lesion...
Prevalence of lung cysts in adolescents and adults with a germline pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/ Registry.
BACKGROUND
Pleuropulmonary blastoma (PPB), the hallmark tumour associated with -related tumour predisposition, is characterised by an age-related progression from a cystic lesion (type I) to a high-grade sarcoma with mixed cystic and solid features (type II) or purely solid lesion (type III). Not all cystic PPBs progress; type Ir (regressed), hypothesised to represent regressed or non-progressed type I PPB, is an air-filled, cystic lesion lacking a primitive sarcomatous component. This study aims to evaluate the prevalence of non-progressed lung cysts detected by CT scan in adolescents and adults with germline pathogenic/likely pathogenic (P/LP) variants.
METHODS
Individuals were enrolled in the National Cancer Institute Natural History of Syndrome study, the International PPB/ Registry and/or the International Ovarian and Testicular Stromal Tumor Registry. Individuals with a germline P/LP variant with first chest CT at 12 years of age or older were selected for this analysis.
RESULTS
In the combined databases, 110 individuals with a germline P/LP variant who underwent first chest CT at or after the age of 12 were identified. Cystic lung lesions were identified in 38% (42/110) with a total of 72 cystic lesions detected. No demographic differences were noted between those with lung cysts and those without lung cysts. Five cysts were resected with four centrally reviewed as type Ir PPB.
CONCLUSION
Lung cysts are common in adolescents and adults with germline variation. Further study is needed to understand the mechanism of non-progression or regression of lung cysts in childhood to guide judicious intervention.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Middle Aged; Young Adult; Cysts; DEAD-box RNA Helicases; Germ-Line Mutation; Lung Diseases; Lung Neoplasms; Prevalence; Pulmonary Blastoma; Registries; Ribonuclease III; Tomography, X-Ray Computed; United States; Aged
PubMed: 38508719
DOI: 10.1136/thorax-2023-221024 -
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 -
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 -
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