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The Journal of International Medical... Oct 2020Pulmonary blastoma (PB) is a very rare malignant lung tumor consisting of classic biphasic PB, well-differentiated fetal adenocarcinoma, and pleuropulmonary blastoma. We... (Review)
Review
Pulmonary blastoma (PB) is a very rare malignant lung tumor consisting of classic biphasic PB, well-differentiated fetal adenocarcinoma, and pleuropulmonary blastoma. We herein present an unusual case involving a patient with classic biphasic PB who underwent right upper lobe resection and subsequent treatment. No standard treatment guidelines are available for PB because of its rarity. Our patient received nedaplatin plus paclitaxel as adjuvant chemotherapy. After disease recurrence, the patient received two cycles of etoposide-cisplatin and six cycles of pemetrexed, bevacizumab, and carboplatin. Because of severe adverse effects of the chemotherapy, the patient was finally administered anlotinib, a new oral multikinase inhibitor. Both the tumor size and the serum tumor marker concentration decreased. In conclusion, surgical excision is the treatment of choice for PB. Chemotherapy in the present case resulted in PB activity that was consistent with the literature. Targeted therapies including antiangiogenic agents should be considered as a new treatment option for this rare disease.
Topics: Biomarkers, Tumor; Humans; Lung; Lung Neoplasms; Neoplasm Recurrence, Local; Pulmonary Blastoma
PubMed: 33107372
DOI: 10.1177/0300060520962394 -
Zhonghua Zhong Liu Za Zhi [Chinese... Jul 2020To explore the clinical characteristics, therapeutic methods and prognosis of pleuropulmonary blastoma in children. The clinical data of 28 patients with...
To explore the clinical characteristics, therapeutic methods and prognosis of pleuropulmonary blastoma in children. The clinical data of 28 patients with pleuropulmonary blastoma diagnosed in Guangzhou Women and Children's Medical Centre from November 2008 to May 2018 were collected and retrospectively analyzed. Of the 28 patients, 18 were male and 10 were female, aged from 22 days to 5 years 10 month, the average age was 2 years 6 months. One patient underwent biopsy and other 27 underwent operation, 14 patients with type Ⅱ/Ⅲ pleuropulmonary blastoma received postoperative chemotherapy. Five patients were pathologically diagnosed as typeⅠpleuropulmonary blastoma, 5 were type Ⅱ pleuropulmonary blastoma and 18 were type Ⅲ pleuropulmonary blastoma. During the follow-up period of 24 patients, 15 patients were disease free survival, 3 patients relapsed within 6 months, 10 months and 18 months after chemotherapy, respectively. One patient who received postoperative chemotherapy suffered a bone metastasis within 11 months, 2 patient without chemotherapy relapsed within 2 months and suffered bone or renal metastasis within 3 months, respectively. Three patients who left hospital voluntarily died within 1 month. Pleuropulmonary blastoma is a highly malignant and rapidly progressed neoplasm. Patients with type Ⅰ pleuropulmonary blastoma have good prognoses while the prognoses of Ⅱ/Ⅲ pleuropulmonary blastoma are poor. Postoperative chemotherapy seems to improve the survival of patients withⅡ/Ⅲ pleuropulmonary blastoma.
Topics: Child; Child, Preschool; Disease-Free Survival; Female; Humans; Lung Neoplasms; Male; Prognosis; Pulmonary Blastoma; Retrospective Studies
PubMed: 32842446
DOI: 10.3760/cma.j.cn112152-20190316-00165 -
International Journal of Gynecological... Jul 2023We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular...
We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular genetic analysis together helped to diagnose this lesion as a cervical pleuropulmonary blastoma-like tumor, associated with TP53 and DICER1 mutations. The tumor displayed usual histologic features including mixtures of embryonal rhabdomyosarcoma, sarcomatous cartilage, compact blastema, primitive spindle cells and anaplasia, akin to type III pleuropulmonary blastoma, and trabecular and retiform patterns. In addition to expanding the phenotypic spectrum of DICER1 -associated conditions, we draw attention to genotype-phenotype correlations in DICER1 -associated tumors, particularly as they relate to the discovery of a heritable tumor predisposition syndrome.
Topics: Female; Humans; Mutation; Pulmonary Blastoma; Uterine Cervical Neoplasms; Rhabdomyosarcoma, Embryonal; Ribonuclease III; Tumor Suppressor Protein p53; DEAD-box RNA Helicases
PubMed: 36302256
DOI: 10.1097/PGP.0000000000000927 -
BMC Cancer Mar 2020This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and...
BACKGROUND
This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and mesenchymal components in this tumor.
METHODS
Three cases of pulmonary blastomatoid carcinosarcoma were enrolled in this study. Clinicopathologic information and prognostic data were retrospectively reviewed. Diagnostic immunohistochemistry was performed. The epithelial and mesenchymal components were microdissected to investigate the genomic profiles by performing capture-based targeted next generation sequencing.
RESULTS
The epithelial components in patient one consisted of low-grade and high-grade fetal lung adenocarcinoma. Low-grade epithelial cells showed nuclear expression of β-catenin and missense mutation of CTNNB1. The epithelial components in another two patients consisted of high-grade fetal lung adenocarcinoma/enteric adenocarcinoma. The epithelial cells showed membrane staining of β-catenin and harbored no mutation of CTNNB1. The mesenchymal components in all three tumors were composed of primitive round/spindle cells without definite differentiation and showed cytoplasmic dot positive of β-catenin and no corresponding mutation. Within a tumor, both components exhibited relatively comparable molecular profile. In patient one, 4 mutations: RB1, FAT3, PTCH1 and LRP1B were shared by both epithelial and mesenchymal components. Epithelial component had additional mutations in BCOR, CTNNB1, CTCF, FAT1 and DICER1. In patient two, 12 mutations were shared. The epithelial component had BRCA2 mutation and the mesenchymal had mutations in CREBBP, ALK, DNMT3A, ASXL2, MYCN and RICTOR. Patient three had 6 shared mutations. The epithelial component had an additional mutation in KAT6A and the mesenchymal had an additional mutation in APC. Collectively, we observed heterogeneity between epithelial and mesenchymal components of the same tumor.
CONCLUSIONS
Blastomatoid carcinosarcoma showed characteristic morphology and immunophenotype. Parallel detection of genetic abnormalities in epithelial and mesenchymal components could provide further evidence for tumor differentiation, molecular targeting and differential diagnosis.
Topics: Adenomatous Polyposis Coli Protein; Adult; Aged; BRCA2 Protein; Biomarkers, Tumor; Carcinosarcoma; Cell Nucleus; Female; Gene Regulatory Networks; High-Throughput Nucleotide Sequencing; Humans; Lung Neoplasms; Male; Middle Aged; Mutation; Neoplasm Grading; Pulmonary Blastoma; Retrospective Studies; Sequence Analysis, DNA; beta Catenin
PubMed: 32209061
DOI: 10.1186/s12885-020-06748-x -
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 -
Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions.Pediatric Radiology Dec 2020Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid... (Review)
Review
Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to arise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree involvement, and severity of obstruction. Lesions vary from small and asymptomatic to large and symptomatic with significant mass effect on surrounding structures. Accurate diagnosis and characterization of these anomalies is crucial for guiding patient counseling as well as perinatal and postnatal management. The goal of this review is to provide an overview of normal fetal lung appearance and imaging features of common and uncommon lesions on both ultrasound and MR imaging, and to discuss key aspects in reporting and evaluating the severity of these lesions.
Topics: Bronchopulmonary Sequestration; Cystic Adenomatoid Malformation of Lung, Congenital; Female; Humans; Lung; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 33252753
DOI: 10.1007/s00247-020-04806-x -
Zhongguo Fei Ai Za Zhi = Chinese... Dec 2018Pulmonary sarcomatoid carcinoma (PSC) is a rare, poorly differentiated, subtype of non-small cell lung carcinoma (NSCLC) and constitutes approximately 0.1% to 0.5% of... (Review)
Review
Pulmonary sarcomatoid carcinoma (PSC) is a rare, poorly differentiated, subtype of non-small cell lung carcinoma (NSCLC) and constitutes approximately 0.1% to 0.5% of all lung malignancies. PSC can be divided into five subtypes based on the 2015 World Health Organization (WHO) classification of lung tumors: pleomorphic carcinoma, spindle cell carcinoma, giant cell carcinoma, carcinosarcoma, and pulmonary blastoma. Some imaging characteristics can be found for PSC although no special symptoms. The accurate pathological diagnosis of PSC can be a significant challenge, which depends on pathology and immunohistochemistry. PSC should be managed similar to other NSCLC, surgical resection is the standard management for early stage cases, moreover, multimodal treatment should be considered. However, PSC is insensitive to radiotherapy and chemotherapy, and has high rate of local and metastatic recurrence and poor prognosis. With the development of molecular pathology, targeted therapy and immunotherapy may have broad prospects. .
Topics: Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Prognosis
PubMed: 30591097
DOI: 10.3779/j.issn.1009-3419.2018.12.07 -
Journal of Radiology Case Reports Sep 2017Pulmonary blastomas are rare malignancies, representing 0.25% to 0.5% of all primary lung neoplasms with often aggressive progression and poor prognosis. Clinical...
Pulmonary blastomas are rare malignancies, representing 0.25% to 0.5% of all primary lung neoplasms with often aggressive progression and poor prognosis. Clinical management of pulmonary blastomas depends on histologic subtype, staging, and presentation, and may consist of surgery, chemotherapy, and radiation. Biphasic pulmonary blastoma is a subtype of pulmonary blastoma that exhibits biphasic histology, with both epithelial and mesenchymal malignant elements. We report a case of biphasic pulmonary blastoma in a 33-year-old female with 1 pack per day history of smoking for approximately 16 years, who presented with left-sided pleuritic chest pain on deep inspiration without otherwise significant pat medical history. Imaging evaluation using chest radiography, computed tomography, and magnetic resonance imaging identified a heterogenous, well-circumscribed, left lower lobe mass with extensive necrosis and hemorrhage. No lymphadenopathy or distant metastasis was detected through imaging evaluation. Surgical resection of the tumor followed by histopathological analysis confirmed a biphasic pulmonary blastoma.
Topics: Adult; Female; Humans; Lung; Lung Neoplasms; Magnetic Resonance Imaging; Perfusion Imaging; Pulmonary Blastoma; Smoking; Tomography, X-Ray Computed
PubMed: 29299105
DOI: 10.3941/jrcr.v11i9.3153 -
Acta Cytologica 2023Pulmonary spindle cell and mesenchymal lesions are paradox for pathologists due to their rarity, overlapping morphology, and differentials ranging from benign to...
INTRODUCTION
Pulmonary spindle cell and mesenchymal lesions are paradox for pathologists due to their rarity, overlapping morphology, and differentials ranging from benign to malignant lesions, and correct diagnosis is essential due to major treatment implications. This study highlights the role of fine-needle aspiration cytology, clot core biopsy, and immunohistochemistry in diagnosis of spindle cell lesions in lung, thus playing a key role in patient management.
METHODS
It is a retrospective study of lung FNA with predominantly spindle and mesenchymal cells from 2015-2020 which were classified cytomorphologically into spindle, epithelioid, small round cell, and biphasic, and IHC panels are applied accordingly. FNA from mediastinum and chest wall was excluded.
RESULTS
60 cases of lung FNA with spindle and mesenchymal cells were identified and included 6 benign and 54 malignancies which included 24 primary pulmonary malignancies and 30 metastases. Most common primary malignancy was sarcomatoid carcinoma, and most common metastasis was malignant peripheral nerve sheath tumour. FNA was paucicellular in 7 cases and was reported as benign in 7 cases and malignant in 46 cases. There were two false-negative cases. One case of pulmonary blastoma was reported as inflammatory pseudotumour on cytology, and other case of chondrosarcoma was reported as chondroid tumour. Sensitivity and specificity of FNA in distinguishing benign lesions and malignancies were 93.8% and 100%, respectively.
CONCLUSION
FNA along with clot core biopsy/cell block and IHC plays a pivotal role in the subsequent pathway taken for diagnostic or therapeutic management of these patients without the need for second sampling or trucut biopsies in a low resource setting.
Topics: Humans; Biopsy, Fine-Needle; Retrospective Studies; Biopsy, Large-Core Needle; Carcinoma; Sensitivity and Specificity; Neoplasms, Connective and Soft Tissue; Lung
PubMed: 36580900
DOI: 10.1159/000528843 -
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