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Case Reports in Pulmonology 2021Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations...
Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.
PubMed: 34745680
DOI: 10.1155/2021/1983864 -
Journal of Indian Association of... 2021Pleuropulmonary blastomas (PPBs) are very rare, highly aggressive, dysembryonic neoplasms of thoracopulmonary mesenchyme. These have been reported in the pediatric...
Pleuropulmonary blastomas (PPBs) are very rare, highly aggressive, dysembryonic neoplasms of thoracopulmonary mesenchyme. These have been reported in the pediatric population and account for only 0.5%-1% of all primary malignant lung cancers. They normally arise from lung tissue, however rarely the parietal pleura may be the tissue of origin (extra pulmonary PPB) which are extremely rare. Common age of presentation is three to 4 years. The prognosis is poor with distant metastasis to central nervous system and bone with survival rate of approximately 42.9% at 5 years. They are managed by aggressive multimodal therapies including surgery and chemotherapy. We report a case of a 3-year-old male child with Type 2 PPB of the left hemithorax, managed by surgical excision of the mass and adjuvant chemotherapy.
PubMed: 34728923
DOI: 10.4103/jiaps.JIAPS_159_20 -
Brain Tumor Research and Treatment Oct 2021Pulmonary blastoma is a rare type of primary lung cancer that accounts for only 0.25%-0.5% of all lung malignancies. Pulmonary blastoma consists of three subgroups:...
Pulmonary blastoma is a rare type of primary lung cancer that accounts for only 0.25%-0.5% of all lung malignancies. Pulmonary blastoma consists of three subgroups: classic biphasic pulmonary blastoma (CBPB), pleuropulmonary blastoma, and well-differentiated fetal adenocarcinoma. Due to the rarity of the tumor, metastatic brain tumor from CBPB is extremely rare, and only 13 cases, including our case, have been reported. A 60-year-old woman who underwent left upper lobectomy of the lung because of pathologically diagnosed as CBPB 5 months ago, suddenly lost consciousness and presented with stupor mental status. The emergent CT scan showed a large, 51 mL, intracerebral hemorrhage on left parieto-occipital lobe with midline shifting. The patient underwent emergent craniotomy, and a hypervascular tumor was identified during the operation. Histopathologic examination reported metastatic pulmonary blastoma, CBPB. The patient has been in a vegetative state, but there has been no evidence of recurrence over a 6-month follow-up period. We report a rare case of brain metastasis from CBPB presenting with altered mentality due to massive tumor bleeding. This is the only reported case of brain metastasis from CBPB presenting with acute intracerebral hemorrhage.
PubMed: 34725989
DOI: 10.14791/btrt.2021.9.e13 -
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern Pathology : An Official Journal... Jan 2022DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common... (Review)
Review
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4-5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.
Topics: Causality; Germ-Line Mutation; Humans; Lung Neoplasms; Pleural Neoplasms; Pulmonary Blastoma; Ribonuclease III; Syndrome
PubMed: 34599283
DOI: 10.1038/s41379-021-00905-8 -
Radiology Case Reports Oct 2021Pleuropulmonary blastoma is a rare, aggressive, malignant tumor of the lungs or pleura that primarily affects children. Pleuropulmonary blastoma is classified into 3...
Pleuropulmonary blastoma is a rare, aggressive, malignant tumor of the lungs or pleura that primarily affects children. Pleuropulmonary blastoma is classified into 3 types based on morphology, including cystic (type I), mixed (type II), or solid (type III). These morphological types correlate with prognosis. In this article, we present a case of type III pleuropulmonary blastoma in a 2-year-old girl. The patient was treated with tumoral resection and chemotherapy; however, she experienced local recurrence and spinal metastasis after 5 months of treatment.
PubMed: 34401036
DOI: 10.1016/j.radcr.2021.07.024 -
Radiology Case Reports Oct 2021Pleuropulmonary blastoma is a rare and highly aggressive pulmonary malignancy in children. Clinically, the malignancy is often mistaken for symptoms of respiratory tract...
Pleuropulmonary blastoma is a rare and highly aggressive pulmonary malignancy in children. Clinically, the malignancy is often mistaken for symptoms of respiratory tract infection or pneumothorax. The neoplasm is histologically characterized by primitive blastema and a malignant mesenchymal stroma that demonstrates multidirectional differentiation. The patients with PPB are managed by multimodal therapy. We present a report of 3 cases of histopathologically diagnosed pleuropulmonary blastoma. The patients presented with chief complaints of difficulty in breathing, cough, fever and chest pain. Radiographs of the patients showed partial to complete opacification of hemithorax. Contrast enhanced computed tomography scans revealed large well defined heterogenously enhancing solid mass lesions in the hemithorax. Knowledge of types, imaging findings, staging and association with other tumors is crucial for correct diagnosis of pleuropulmonary blastoma and subsequent adequate management.
PubMed: 34401014
DOI: 10.1016/j.radcr.2021.06.046 -
Pediatric Blood & Cancer Nov 2021A 2-year-old boy presented with a large cystic and solid chest mass arising from the lung, radiographically consistent with pleuropulmonary blastoma (PPB). He underwent...
A 2-year-old boy presented with a large cystic and solid chest mass arising from the lung, radiographically consistent with pleuropulmonary blastoma (PPB). He underwent right lower lobectomy with resection of a well-circumscribed, mixed solid and cystic mass. The solid areas were composed of cords and nests of tumor cells in the myxoid stroma and retiform foci whose pathologic and immunophenotypic findings were consistent with a sex cord-stromal tumor with features of a Sertoli-Leydig cell tumor. Tumor testing showed a pathogenic variant in the DICER1 RNase IIIb hotspot domain. Family history was suggestive of DICER1 germline pathogenic DICER1 variation in absence of a detectable germline variant. He received 12 cycles of chemotherapy with ifosfamide, vincristine, dactinomycin and doxorubicin (IVADo) and surgery with complete response. One year after completion of chemotherapy, imaging studies showed concern for recurrence confirmed by thorascopic biopsy of a pleural-based mass. He is currently receiving cisplatin-based chemotherapy with reduction in tumor size. Review of the literature showed no similar cases; however, review of our pathology files revealed a single similar case of anterior mediastinal Sertoli cell tumor in a 3-year-old girl.
Topics: Child, Preschool; DEAD-box RNA Helicases; Female; Germ-Line Mutation; Humans; Male; Pulmonary Blastoma; Ribonuclease III; Sertoli-Leydig Cell Tumor
PubMed: 34398502
DOI: 10.1002/pbc.29284 -
Annals of Medicine and Surgery (2012) Aug 2021and importance: Congenital cystic adenomatoid malformation (CCAM) is a rare cystic lesion in the lungs. CCAM might present in the early neonatal period with symptoms of...
INTRODUCTION
and importance: Congenital cystic adenomatoid malformation (CCAM) is a rare cystic lesion in the lungs. CCAM might present in the early neonatal period with symptoms of respiratory distress.
CASE PRESENTATION
A 2-year-old girl was admitted to our Pediatric Intensive Care Unit with signs of severe respiratory distress. She had been diagnosed with CCAM since she was three months old. She also had undergone several procedures such as thoracotomy and decortication since then, but she still suffered some episodes of pulmonary infection. In this admission, her computerized thoracic tomography revealed a pleuropulmonary blastoma (PPB).
CLINICAL DISCUSSION
An obstruction of blood outflow from the left ventricle could happen when an intrathoracic mass exists, leading to a decrease of cardiac output and resulting in an obstructive shock, which could be fatal. One of the malignancy types commonly occurring is pleuropulmonary blastoma (PPB), which has a poor prognosis. Early detection on CCAM can be done by prenatal ultrasound.
CONCLUSION
Obstructive shock is one of complication that might occur in pleuropulmonary blastoma.
PubMed: 34381602
DOI: 10.1016/j.amsu.2021.102614 -
Radiology Case Reports Sep 2021Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part...
Pleuropulmonary blastoma (PPB) is a rare but aggressive pediatric tumor originates from either lung or pleura. It was recently linked to the DICER I mutation as a part of predisposition syndrome for different type of tumor. It is characterized histologically by a primitive, variably mixed blastomatous and sarcomatous tissue. PPB is classified into four subtypes: cystic (type I and type Ir); cystic and solid (type II); solid (type III). PPB has no characteristic imaging findings. Integrated imaging can help to make a differential diagnosis and to recognize the subtypes in order to set up therapy. An early recognition and differentiation from congenital airway malformations and other benign cysts are very important. The treatment consists in a multimodal therapy including surgery and chemoterapy. We report a case of 3 years old female admitted at our hospital with fever, non productive cough and dyspnea, who was diagnosed with type II PPB.
PubMed: 34345335
DOI: 10.1016/j.radcr.2021.06.022 -
Familial Cancer Oct 2023Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic...
Pathogenic germline DICER1 variants are associated with pleuropulmonary blastoma, multinodular goiter, embryonal rhabdomyosarcoma and other tumour types, while mosaic missense DICER1 variants in the RNase IIIb domain are linked to cause GLOW (global developmental delay, lung cysts, overgrowth, and Wilms' tumor) syndrome. Here, we report four families with germline DICER1 pathogenic variants in which one member in each family had a more complex phenotype, including skeletal findings, facial dysmorphism and developmental abnormalities. The developmental features occur with a variable expressivity and incomplete penetrance as also described for the neoplastic and dysplastic lesions associated with DICER1 variants. Whole exome sequencing (WES) was performed on all four cases and revealed no further pathogenic or likely pathogenic dominant, homozygous or compound heterozygous variants in three of them. Notably, a frameshift variant in ARID1B was detected in one patient explaining part of her phenotype. This series of patients shows that pathogenic DICER1 variants may be associated with a broader phenotypic spectrum than initially assumed, including predisposition to different tumours, skeletal findings, dysmorphism and developmental abnormalities, but genetic work up in syndromic patients should be comprehensive in order not to miss additional underlying /modifying causes.
Topics: Female; Humans; Germ-Line Mutation; Phenotype; Frameshift Mutation; Cysts; Ribonuclease III; Germ Cells; DEAD-box RNA Helicases
PubMed: 34331184
DOI: 10.1007/s10689-021-00271-z