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The American Journal of the Medical... Dec 2023
Topics: Humans; Pulmonary Blastoma
PubMed: 37652203
DOI: 10.1016/j.amjms.2023.08.009 -
Archivos Argentinos de Pediatria Jun 2018Pleuropulmonary Blastoma corresponds to a malignant primary lung disorder, exclusive of pediatric age, infrequent and of aggressive characteristics. Age on diagnosis is...
Pleuropulmonary Blastoma corresponds to a malignant primary lung disorder, exclusive of pediatric age, infrequent and of aggressive characteristics. Age on diagnosis is 1 month-12 years. Rates per sex are equal. It can be found inside pleura or lungs. Respiratory distress associated or not with pneumothorax, chest pain and fever are classical clinical signs. These symptoms could be misdiagnosed as pneumonia. Radiologically, a large mass near the pleura at the base of the right lung without air bronchogram is its most common form. It has three histological types: type I (cystic), type II (mixed) and type III (solid). Its treatment requires tumor excision and multimodal chemotherapy. Pleuropulmonary Blastoma type I has good prognosis; type II and III variants have lower survival. We report a 2-year-old girl, pointing to the clinicalradiological diagnosis.
Topics: Child, Preschool; Cough; Female; Hemoptysis; Humans; Prognosis; Pulmonary Blastoma; Survival
PubMed: 29756723
DOI: 10.5546/aap.2018.e455 -
La Tunisie Medicale Jan 2019Pulmonary Sarcomatoid Carcinoma (PSC) is a rare group of tumors accounting for about 0.4% of non-small cell lung carcinoma (NSCLC). Five subtypes were described:...
INTRODUCTION
Pulmonary Sarcomatoid Carcinoma (PSC) is a rare group of tumors accounting for about 0.4% of non-small cell lung carcinoma (NSCLC). Five subtypes were described: pleomorphic carcinoma, spindle cell carcinoma, carcinosarcoma, giant cell carcinoma and pulmonary blastoma. The diagnosis is pathological but requires a good quality sampling of the tumor.
METHODS
On a series of 1582 patients operated on for lung cancer from 1992 to 2016, 43 patients were retrospectively identified as having been treated surgically for pulmonary sarcomatoid carcinoma.
RESULTS
The population consisted of 33 males and 10 females with mean age of 55 years. Imaging findings showed a peripheral mass in the majority of cases (n=29). Careful investigation failed to discover a primitive lesion elsewhere. Six patients received induction therapy for wall involvement. Lobectomy or bilobectomy was performed in 30 patients and pneumonectomy in 11 patients. A wedge resection was performed in one patient and an exploratory thoracotomy in another. In macroscopy, the mean tumor's size was 5.2 cm (1-17.5cm). The histologic diagnoses were: pleomorphic carcinoma (n=30), carcinosarcoma (n=5), spindle cell carcinoma (n=1), giant cell carcinoma (n=3) and blastoma (n=4). Two patients died within 1 month of surgical complications and 5 died of disease within 17 months. Adjuvant therapy was performed in 6 patients. Recurrence happened in 4 patients within 12 months after operation. Median survival for all patients was 8months.
CONCLUSIONS
Resection of primary pulmonary sarcomatoid carcinoma is associated with an acceptable survival rate if the resection is complete. The size of the tumor is the most important prognosis factor. Nevertheless, a carefully follow-up is essential.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Lung Neoplasms; Male; Middle Aged; Pneumonectomy; Prognosis; Retrospective Studies; Sarcoma; Treatment Outcome; Young Adult
PubMed: 31535704
DOI: No ID Found -
Diagnostic Cytopathology Feb 2024Pleuropulmonary blastoma (PPB) is a rare, aggressive, primary intrathoracic malignancy typically seen in infancy and early childhood. Accurate distinction from... (Review)
Review
INTRODUCTION
Pleuropulmonary blastoma (PPB) is a rare, aggressive, primary intrathoracic malignancy typically seen in infancy and early childhood. Accurate distinction from congenital cystic lung lesions is crucial due to significant prognostic and therapeutic differences. Cytologic features have rarely been described. Establishing a cytodiagnosis is challenging owing to its rarity, lack of awareness, and multiple morphologic mimics.
MATERIALS AND METHODS
This was a retrospective study conducted over 8 years. The histopathology and cytopathology databases were searched for all pediatric PPB cases. The corresponding cytologic samples were reviewed to identify characteristic features that can help distinguish PPB from its mimics.
RESULTS
There was a total of six cases of pediatric PPB reported during the study period. Of these, four (66.7%) presented as intrathoracic, and two (33.3%) as pleural-based masses. Cytology smears showed discretely scattered and perivascular arrangements of round-oval tumor cells with background eosinophilic stromal material. The tumor cells were mildly pleomorphic (n = 3) with round nuclei, fine chromatin, inconspicuous nucleoli, and scanty cytoplasm; however, three cases showed marked anaplasia, and one each showed necrosis and rhabdoid differentiation. On immunocytochemistry (4/6), these were positive for vimentin and desmin and negative for WT1, chromogranin, SALL4, cytokeratin, CD45, and CD99. FISH (1/6) did not show N-Myc amplification.
CONCLUSIONS
Knowledge of the characteristic cytomorphological and immunocytochemical features of PPB is vital to establish a prompt and accurate cytodiagnosis with appropriate clinicoradiologic correlation.
Topics: Humans; Child; Child, Preschool; Lung Neoplasms; Retrospective Studies; Pleural Neoplasms; Pulmonary Blastoma
PubMed: 37964698
DOI: 10.1002/dc.25254 -
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 -
Thoracic Cancer Oct 2018A 65-year-old never-smoking woman presented to a local hospital, because an abnormal shadow was detected at the right lower lung field by annual chest X-ray. Computed... (Review)
Review
A 65-year-old never-smoking woman presented to a local hospital, because an abnormal shadow was detected at the right lower lung field by annual chest X-ray. Computed tomography (CT) revealed a 5-cm tumor in segment 6 of her right lung and an enlarged subcarinal lymph node, suggesting metastasis. The lung tumor was diagnosed as adenocarcinoma by a CT-guided percutaneous needle biopsy. She was referred to our hospital and underwent right lower lobectomy with lymph node dissection (ND2a-2). A histopathological examination of the tumor showed a biphasic proliferation made of carcinomatous and sarcomatous components. The carcinomatous component consisted of glandular structures of atypical cells that possessed chromatin-rich nuclear and clear cytoplasm, confirming high-grade fetal adenocarcinoma. The sarcomatous component consisted of immature spindle cells that differentiated into chondrosarcoma. Immunohistochemically, the glandular structures expressed membranous beta-catenin, and the ultimate diagnosis was blastomatoid variant of pulmonary carcinosarcoma. She received four courses of cisplatin plus vinorelbine as adjuvant chemotherapy and remained alive with neither recurrence nor distant metastasis at two and a half years after the operation. We experienced a rare case of blastomatoid pulmonary carcinoasarcoma.
Topics: Aged; Carcinosarcoma; Female; Humans; Lung Neoplasms
PubMed: 30106243
DOI: 10.1111/1759-7714.12831 -
International Journal of Clinical and... 2019Pulmonary blastoma (PB) is a very rare malignant lung tumor, consisting of immature epithelium and/or mesenchymal tissue. The two tissue components are derived from the...
Pulmonary blastoma (PB) is a very rare malignant lung tumor, consisting of immature epithelium and/or mesenchymal tissue. The two tissue components are derived from the same precursor cells. In this study, we present a case of a 29-year-old woman with classical biphasic pulmonary blastoma, who underwent right middle lobe resection and subsequent treatment. Due to the low incidence rate and the reclassification of PB, no standard treatment is available currently. In our case, the patient received radiotherapy and chemotherapy and is doing well at 6 months' follow up. In retrospect, we review the pathology, clinical manifestations, imaging features and treatment of this disease.
PubMed: 31933843
DOI: No ID Found -
Radiology Case Reports Jul 2021We are presenting a rare case with the simultaneous occurrence of pleuropulmonary blastoma and an intra lobar pulmonary sequestration. Although there have been cases...
We are presenting a rare case with the simultaneous occurrence of pleuropulmonary blastoma and an intra lobar pulmonary sequestration. Although there have been cases reported previously with pleuropulmonary blastoma associated with congenital pulmonary malformations, the association with an intra lobar pulmonary sequestration is very rare. The patient, a female, 6-month-old child arrived at our pediatric service with the clinic of cough, respiratory distress, and fever after being treated for 2 weeks for left lung bronchopneumonia according clinical signs and radiographic description but without clinical improvements. Contrast enhanced CT images showed the simultaneous presence of 2 different lesions in the left lung, a heterogeneous mass in the superior lobe without delineation with mediastinal structure compatible with a pleuropulmonary blastoma and a consolidation in the inferior lobe with bronchogram present and a systemic vessel feeding compatible with an intra lobar pulmonary sequestration, both confirmed by histologic examinations after the surgical intervention. Although it is very rare, the simultaneous presence of these distinct embryogenic lesions may occur and radiologist should be aware as the imaging diagnosis may be very helpful for the further management of the patient.
PubMed: 34007392
DOI: 10.1016/j.radcr.2021.04.040 -
Annals of Diagnostic Pathology Oct 2022DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary... (Comparative Study)
Comparative Study
Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically, genetically and epigenetically related - A comparative study of 4 PPBs and 6 sarcomas.
DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary blastomas (PPBs) and 6 sarcomas by mutation analysis, whole transcriptome sequencing and methylation profiling. 9/10 patients were female. PPB patients were 0-4 years. 3/4 were alive; 2 without disease. One patient died of metastatic disease (median follow-up, 16 months). Sarcoma patients were 16-56 years. Locations included: uterine cervix/corpus (3/1), soft tissue back/shoulder (1) and paravertebral (1). 5/6 patients were alive; 2 developed metastases: intracranial (1) and lung and kidney (1) (median follow-up, 17 months). The deceased patient previously had a PPB and a Sertoli-Leydig cell tumor. Histologically, tumors showed atypical primitive-looking cells with incomplete rhabdomyoblastic differentiation and cartilage (n = 5). Immunohistochemistry demonstrated desmin- (n = 9/10), myogenin- (n = 6/10) and keratin positivity (n = 1/1). Eight cases harbored biallelic DICER1 mutations with confirmed germline mutations in 4 cases. Two cases showed a monoallelic mutation. By RNA expression- and methylation profiling, distinct clustering of our cases was seen demonstrating a close relationship on (epi)genetic level and similarities to embryonal rhabdomyosarcoma. In conclusion, this study shows overlapping morphological, immunohistochemical and (epi)genetic features of PPBs and DICER1-associated high-grade sarcomas, arguing that these neoplasms form a spectrum with a broad clinicopathological range.
Topics: Female; Humans; Male; DEAD-box RNA Helicases; Desmin; Keratins; Mutation; Myogenin; Pulmonary Blastoma; Rhabdomyosarcoma, Embryonal; Ribonuclease III; RNA; Soft Tissue Neoplasms
PubMed: 35779311
DOI: 10.1016/j.anndiagpath.2022.152002 -
Journal of Thoracic Oncology : Official... Nov 2016The appropriate management of asymptomatic congenital pulmonary malformations (CPMs) remains controversial. Prophylactic surgery is recommended to avoid the risk for... (Review)
Review
INTRODUCTION
The appropriate management of asymptomatic congenital pulmonary malformations (CPMs) remains controversial. Prophylactic surgery is recommended to avoid the risk for development of pulmonary infections and to prevent the highly debated development of malignancy. However, the true risk for development of malignancy remains unknown. A systematic review analyzed all cases in which lung tumors associated with CPMs in both the pediatric and adult populations were described.
METHODS
A comprehensive literature search was carried out; it included all the cases in which an association between CPMs and malignant pulmonary lesions was reported.
RESULTS
In all, 134 publications were eligible for inclusion. In 168 patients CPM was found associated with lung tumor. The diagnosis was made in 76 children at a mean age of 3.68 ± 3.4, whereas in the adult population (n = 92) it was made at a mean age of 44.62 ± 16.09. Cough was the most frequent presenting symptom both in children and in adults. Most of the patients underwent lobectomy. The tumor most often associated with CPM was pleuropulmonary bastoma in children (n = 31) and adenocarcinoma (n = 20) or bronchioloalveolar carcinoma (n = 20) in adults. The CPM most frequenty associated with tumors in children was congenital cystic adenomatoid malformation (n = 37), especially type 1 (n = 21), whereas in adults it was bronchogenic cyst (n = 25), followed by congenital cystic adenomatoid malformation (n = 21).
CONCLUSIONS
CPMs should be followed up and never underestimated because they may conceal a tumor. Apparently, there is no age limit for malignant progression of CPMs and no limit of the interval between first detection of the CPM and appearance of the associated tumor.
Topics: Adenocarcinoma; Adult; Child, Preschool; Congenital Abnormalities; Female; Humans; Lung Neoplasms; Male
PubMed: 27423390
DOI: 10.1016/j.jtho.2016.06.023