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Respiratory Medicine Case Reports 2021Pulmonary blastoma is an aggressive lung cancer with incidence ranging from 0.25-0.5 of all the reported lung cancers. Although, pulmonary blastoma is seen commonly in...
Pulmonary blastoma is an aggressive lung cancer with incidence ranging from 0.25-0.5 of all the reported lung cancers. Although, pulmonary blastoma is seen commonly in childhood its very rare in adults. Surgical treatment is often the treatment of choice, but benefits of neoadjuvant chemotherapy are unclear. People with DICER1 syndrome commonly develop Pulmonary blastoma and do have concomitant or previous history of benign or malignant tumours in extra pulmonary site like kidney, thyroid, ovary cervix testicle and eye. As per our knowledge, this is the first case of adult pulmonary blastoma previously diagnosed with urothelial cancer and a strong familial predilection of malignancy, with negative genetic test for DICER1 mutations.
PubMed: 34820260
DOI: 10.1016/j.rmcr.2021.101556 -
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 -
Advances in Respiratory Medicine 2021Pulmonary blastoma is a rare malignancy, accounting for less than 0.5% of primary lung tumors. It belongs to the group of pulmonary sarcomatoid carcinomas, and it is... (Review)
Review
INTRODUCTION
Pulmonary blastoma is a rare malignancy, accounting for less than 0.5% of primary lung tumors. It belongs to the group of pulmonary sarcomatoid carcinomas, and it is typically characterized by a biphasic pattern of an epithelial and a mesenchymal component. Only a few hundred cases have been reported worldwide. The aim of this study is to review and critically assess the literature regarding pulmonary blastoma.
MATERIAL AND METHODS
A narrative literature review of PubMed database from the inception of the database up to January 2021, limited to the English language, was conducted, using combinations of the following keywords: "pulmonary blastoma", "biphasic pulmonary blastoma", "sarcomatoid carcinoma".
RESULTS
Pulmonary blastoma is composed of an epithelial and a mesenchymal malignant component. Regarding pathogenesis, the origin of the biphasic cell population remains elusive. Characteristic immunohistochemical stains are supportive of diagnosis.Clinically, the symptomatology is non-specific, while 40% of the cases are asymptomatic. It is diagnosed at a younger agecompared to other types of lung cancer, and it is often non-metastatic at diagnosis allowing for surgical treatment. Data on management and survival are scarce and mainly come from isolated cases. Advances on targeted therapy may provide novel treatment options. Given the rarity of the cases, multicenter collaboration is needed in order to establish therapeutic guidelines.
Topics: Humans; Lung Neoplasms; Neoplasm Staging; Pulmonary Blastoma
PubMed: 34725809
DOI: 10.5603/ARM.a2021.0085 -
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 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 -
BMJ Case Reports Aug 2021Classic biphasic pulmonary blastoma (CBPB) is a very rare primary pulmonary malignancy with distinctive clinical and pathological features. Usually CBPB presents with...
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.
Topics: Female; Humans; Lung; Lung Neoplasms; Prognosis; Pulmonary Blastoma; Tomography, X-Ray Computed
PubMed: 34376421
DOI: 10.1136/bcr-2021-244151