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Cytopathology : Official Journal of the... May 2023Pulmonary blastomas are exceptionally rare tumours. These tumours behave aggressively, with a propensity to metastasise to the brain and mediastinum. A definitive...
BACKGROUND
Pulmonary blastomas are exceptionally rare tumours. These tumours behave aggressively, with a propensity to metastasise to the brain and mediastinum. A definitive diagnosis of pulmonary blastoma is challenging to obtain on cytomorphology alone.
CASE REPORT
We herein describe a case of a 59-year-old female who presented with a scalp lesion. The patient was diagnosed to have pulmonary blastoma on histopathology of left lower lobectomy specimen. Fine needle aspiration cytology was done from this recently developed scalp swelling. Cytomorphology supplemented with immunocytochemistry on cell block confirmed the diagnosis of a metastatic pulmonary blastoma.
CONCLUSIONS
In a known case of primary pulmonary blastoma, any newly developing lesion at any anatomical site should be carefully evaluated for metastasis. If metastasis is needled and no previous histology is available, it carries a reasonable risk of erroneous interpretation. It is essential not to overlook often subtle biphasic malignant cells on the smears, which otherwise resemble other poorly differentiated tumours. Immunocytochemistry coupled with morphology is confirmatory.
Topics: Female; Humans; Middle Aged; Pulmonary Blastoma; Lung Neoplasms; Diagnosis, Differential; Scalp; Biopsy, Fine-Needle
PubMed: 36571204
DOI: 10.1111/cyt.13205 -
The American Journal of Surgical... Feb 2024Germline and somatic pathogenic variants (PVs) in DICER1 , encoding a miRNA biogenesis protein, are associated with a wide variety of highly specific pathologic...
Germline and somatic pathogenic variants (PVs) in DICER1 , encoding a miRNA biogenesis protein, are associated with a wide variety of highly specific pathologic entities. The lung tumors pleuropulmonary blastoma, pulmonary blastoma (PB), and well-differentiated fetal lung adenocarcinoma (WDFLAC) are all known to harbor DICER1 biallelic variants (loss of function and/or somatic hotspot missense mutations), and all share pathologic features reminiscent of the immature lung. However, the role of DICER1 PVs in non-small cell lung cancer (NSCLC) is relatively unknown. Here, we aimed to establish the spectrum of lung pathologies associated with DICER1 hotspot PVs and to compare the mutational landscape of DICER1 -mutated NSCLC with and without hotspots. We queried DNA sequencing data from 12,146 NSCLCs featuring somatic DICER1 variants. 235 (1.9%) cases harboring ≥ 1 DICER1 PV were found and 9/235 (3.8%) were DICER1 hotspot-positive cases. Histologic review of DICER1 hotspot-positive cases showed that all but one tumor were classified as within the histologic spectrum of PB/WDFLAC, whereas all the DICER1 non-hotspot double variants were classified as lung adenocarcinomas, not otherwise specified. Comparison between the mutational landscape of DICER1 hotspot-positive and hotspot-negative cases revealed a higher frequency of CTNNB1 mutations in the hotspot-positive cases (5/9 vs. 2/225; P <0.00001). We conclude that DICER1 somatic hotspots are not implicated in the most common forms of NSCLC but rather select for morphologic features of lung tumor types such as PB and WDFLAC. As a corollary, cases showing this tumor morphology should undergo testing for DICER1 variants, and if positive, genetic counseling should be considered.
Topics: Humans; Infant, Newborn; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Mutation; MicroRNAs; Pulmonary Blastoma; Ribonuclease III; Germ-Line Mutation; DEAD-box RNA Helicases
PubMed: 38050371
DOI: 10.1097/PAS.0000000000002162 -
Journal of the Formosan Medical... Nov 2022The purpose of this study is to compare the clinical characteristics and surgical outcomes of thoracotomy and video-assisted thoracoscopic surgery (VATS) in children...
BACKGROUND
The purpose of this study is to compare the clinical characteristics and surgical outcomes of thoracotomy and video-assisted thoracoscopic surgery (VATS) in children with congenital lung malformations (CLMs) in a tertiary referring center and to report our modified biportal VATS setting.
METHODS
This is a single-center retrospective chart review study including children who underwent surgical resection for CLMs between January 2007 and December 2020. Patient characteristics and surgical outcomes were compared between open and thoracoscopy, as well as conventional VATS and biportal VATS. Biportal setting included an anterior utility wound and a camera trocar wound with one-lung ventilation.
RESULTS
A total of 100 patients were identified. Twenty patients received thoracotomy, and 80 patients received VATS (67 conventional and 13 biportal VATS). The median age at operation was 0.4 months in the thoracotomy group and 4.7 months in the VATS group. More patients in the thoracotomy group had preoperative symptoms, comorbidities, and emergent operations. The patients who underwent thoracotomy had significantly longer postoperative ICU stays, chest tube durations, hospital stays, and more complications. The pathological analysis revealed 67 congenital pulmonary airway malformations, 27 pulmonary sequestration, 6 hybrid lesions, and one accompanying pleuropulmonary blastoma. Compared to conventional VATS, the ICU stay was shorter in the biportal VATS group, with comparable operative durations, hospital stay and complications.
CONCLUSION
VATS for CLMs is associated with better postoperative recovery and fewer complications. Biportal VATS is also a safe and feasible approach.
Topics: Child; Humans; Length of Stay; Lung; Lung Diseases; Lung Neoplasms; One-Lung Ventilation; Pneumonectomy; Postoperative Complications; Retrospective Studies; Thoracic Surgery, Video-Assisted; Thoracotomy; Treatment Outcome
PubMed: 35331621
DOI: 10.1016/j.jfma.2022.03.003 -
Medicine Nov 2022Pulmonary blastoma is an extremely rare and highly aggressive tumor. Only a few hundred cases of pulmonary blastoma have been reported. In other cases, a definitive...
RATIONALE
Pulmonary blastoma is an extremely rare and highly aggressive tumor. Only a few hundred cases of pulmonary blastoma have been reported. In other cases, a definitive diagnosis is often made through surgical resection. The use of preoperative histopathological sampling in diagnosing was of limited value because of the variety of pulmonary blastoma histology. And there was no literature that the first biopsy was attempted with medical thoracoscopy for diagnosis.
PATIENT CONCERNS
A 65-year-old man presented to our hospital with pleural effusion and lung mass.
DIAGNOSES
The patient was initially diagnosed with dedifferentiated chondrosarcoma by medical thoracoscopic biopsy but the final diagnosis was pulmonary blastoma through bilobectomy.
INTERVENTIONS
Medical thoracoscopy, and video-assisted thoracoscopic surgery (bilobectomy) followed by adjuvant chemotherapy.
OUTCOMES
After surgical resection of the tumor, adjuvant chemotherapy has been performed 5 cycles at 3 weeks intervals, and there was no evidence of recurrence on follow-up computed tomography performed 4 months after surgery.
LESSONS
Medical thoracoscopy is useful for the diagnosis of indeterminate pleural effusion; however, caution is needed when confirming rare malignancies, such as pulmonary blastoma. Although surgical resection is the treatment of choice, appropriate adjuvant chemotherapy to improve the prognosis may be necessary if there is pleural metastasis.
Topics: Male; Humans; Aged; Pulmonary Blastoma; Thoracic Surgery, Video-Assisted; Pleural Effusion; Lung Neoplasms; Chondrosarcoma
PubMed: 36451398
DOI: 10.1097/MD.0000000000031377 -
Annals of Surgery Dec 2021To describe utilization and long-term outcomes of pneumonectomy in children and adolescents with cancer.
OBJECTIVE
To describe utilization and long-term outcomes of pneumonectomy in children and adolescents with cancer.
SUMMARY BACKGROUND DATA
Pneumonectomy in adults is associated with significant morbidity and mortality. Little is known about the indications and outcomes of pneumonectomy for pediatric tumors.
METHODS
The Pediatric Surgical Oncology Research Collaborative (PSORC) identified pediatric patients <21 years of age who underwent pneumonectomy from 1990 to 2017 for primary or metastatic tumors at 12 institutions. Clinical information was collected; outcomes included operative complications, long-term function, recurrence, and survival. Univariate log rank, and multivariable Cox analyses determined factors associated with survival.
RESULTS
Thirty-eight patients (mean 12 ± 6 yrs) were identified; median (IQR) follow-up was 19 (5-38) months. Twenty-six patients (68%) underwent pneumonectomy for primary tumors and 12 (32%) for metastases. The most frequent histologies were osteosarcoma (n = 6), inflammatory myofibroblastic tumors (IMT; n = 6), and pleuropulmonary blastoma (n = 5). Median postoperative ventilator days were 0 (0-1), intensive care 2 (1-3), and hospital 8 (5-16). Early postoperative complications occurred in 10 patients including 1 death. Of 25 (66%) patients alive at 1 year, 15 reported return to preoperative pulmonary status. All IMT patients survived while all osteosarcoma patients died during follow-up. On multivariable analysis, metastatic indications were associated with nonsurvival (HR = 3.37, P = 0.045).
CONCLUSION
This is the largest review of children who underwent pneumonectomy for cancer. There is decreased procedure-related morbidity and mortality than reported for adults. Survival is worse with preoperative metastatic disease, especially osteosarcoma.
Topics: Adolescent; Child; Child, Preschool; Humans; Length of Stay; Lung Neoplasms; Myofibroma; Neoplasm Metastasis; Neoplasm Recurrence, Local; Operative Time; Osteosarcoma; Pneumonectomy; Postoperative Complications; Proportional Hazards Models; Pulmonary Blastoma; Survival Analysis
PubMed: 32209902
DOI: 10.1097/SLA.0000000000003795 -
Frontiers in Oncology 2023The incidence of primary lung cancer (LC) in children and adolescence was rare. We analyzed data from a SEER database to better define the incidence, clinical...
BACKGROUND
The incidence of primary lung cancer (LC) in children and adolescence was rare. We analyzed data from a SEER database to better define the incidence, clinical characters, pathology, treatment, and outcomes of rare primary malignant pulmonary tumors in childhood and adolescence.
METHODS
Patients were chosen from the SEER database (SEER*Stat 8.4.0 software) from 2000 to 2019 and all patients were pathologically diagnosed with primary malignant tumors of the lung and bronchus. Demographic characteristics of patients (age, gender, race, primary site, laterality, location, differentiation grade, operation methods, histology, and history of radiotherapy and chemotherapy), as well as TNM stage and survival time, were collected.
RESULTS
A total of 301 cases of children ≤19 years of age with a primary malignant pulmonary tumor were reported to the SEER database from 2000 to 2019. There were 143 men (47.5%) and 158 women (52.5%). Whites represented majority of patients (79.7%), followed by Black (13.6%) and others (6.7%). As for the primary site, the main site was the lower lobe (33.2%), followed by the upper lobe (26.9%). Most of the patients (80.4%) underwent surgery. Lobectomy (39.9%) is the main operation method. Only 28 (9.3%) patients received radiotherapy and 112 (37.2) patients received chemotherapy. Carcinoid tumor was the most common histology (29.6%), followed by pulmonary blastoma (PB) (22.3%), mucoepidermoid carcinoma (MEC) (12.3%), adenocarcinoma (10.3%), neuroendocrine tumor (NET) (5.7%), squamous cell carcinoma (SCC) (5.3%), atypical carcinoma (2.3%). The mean follow-up time was 100 months. For the entire group of children and adolescents, the 1-year OS was 89.1%, and the 3-year overall survival (OS) was 79.7%. the 5-year OS was 77.9%, the 10-year OS was 75.7%, and the 15-year OS was 73.9%. And 1-year lung cancer specificity survival (LCSS) was 89.8%, and the 3-year LCSS was 80.4%. the 5-year LCSS was 79.4%, the 10-year LCSS was 77.7%, and the 15-year LCSS was 75.9%. The OS of atypical carcinoma, carcinoid tumor, and MEC were in the top three.
CONCLUSIONS
Primary LC in children and adolescent were rare and histopathological diverse. Fortunately, children and adolescents with LC had an overall favorable outcome after treatment. Histology, differentiation grade, surgery, TNM stage, and therapeutic modalities have important influence on OS. The further treatment experience of each pathological type would make better evidence-based practice possible.
PubMed: 37091171
DOI: 10.3389/fonc.2023.1053248 -
Virchows Archiv : An International... Sep 2020
Topics: Cystic Adenomatoid Malformation of Lung, Congenital; Humans; Pulmonary Blastoma
PubMed: 32300881
DOI: 10.1007/s00428-020-02811-x -
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 -
Urology Aug 2021DICER1 syndrome is a rare hereditary cancer predisposition syndrome that has relevance to pediatric urology providers due to its association with many various pediatric... (Review)
Review
DICER1 syndrome is a rare hereditary cancer predisposition syndrome that has relevance to pediatric urology providers due to its association with many various pediatric genitourinary malignancies. We describe the case of a pediatric patient who was eventually diagnosed with a pathogenic DICER1 germline variant after undergoing resection of a cystic nephroma and pleuropulmonary blastoma.
Topics: Child, Preschool; DEAD-box RNA Helicases; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Kidney Diseases, Cystic; Kidney Neoplasms; Lung Neoplasms; Male; Pneumothorax; Pulmonary Blastoma; Ribonuclease III; Syndrome; Tomography, X-Ray Computed
PubMed: 33571543
DOI: 10.1016/j.urology.2021.01.049 -
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