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1.
Histopathology ; 84(1): 86-101, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37873676

RESUMO

NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumour are unique entities in the 5th edition of the World Health Organisation (WHO) Classification of Thoracic Tumours, whose definitions include molecular genetic abnormalities. These aggressive tumours require rapid work-ups on biopsies, but a broad list of differential diagnoses poses challenges for practising pathologists. This review provides an update on their key clinicopathological and molecular characteristics, as well as controversies regarding tumour classification and diagnostic strategy. Phenotypical assessment plays a substantial role in diagnosis because recurrent and predictable clinicopathological findings exist, including robust immunohistochemical phenotypes. Accurate diagnosis is crucial for appropriate management and a clearer understanding of the disease.


Assuntos
Carcinoma , Neoplasias Torácicas , Humanos , Fatores de Transcrição/genética , Proteínas Nucleares/genética , DNA Helicases/genética , Biomarcadores Tumorais , Carcinoma/diagnóstico , Carcinoma/patologia , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/genética , Neoplasias Torácicas/patologia
2.
Jpn J Clin Oncol ; 54(3): 265-270, 2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38117955

RESUMO

Thoracic SMARCA4-deficient undifferentiated tumor is a newly recognized disease entity characterized as a high-grade malignant neoplasm with an undifferentiated or rhabdoid phenotype. The tumor was initially identified as a subtype of thoracic sarcoma with SMARCA4 loss, but further investigation resulted in its classification as a subtype of epithelial malignancies in the current World Health Organization classification. SMARCA4-deficient undifferentiated tumor is highly aggressive and has a poor prognosis. Because of its rarity, an optimal treatment strategy has not yet been identified. In this review, we summarize the literature on SMARCA4-deficient undifferentiated tumor in terms of its clinical characteristics, diagnosis, treatment strategy and future perspectives.


Assuntos
Sarcoma , Neoplasias de Tecidos Moles , Neoplasias Torácicas , Humanos , Sarcoma/diagnóstico , Biomarcadores Tumorais/genética , Neoplasias Torácicas/genética , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/patologia , DNA Helicases/genética , Proteínas Nucleares/genética , Fatores de Transcrição/genética
3.
Jpn J Clin Oncol ; 54(8): 911-916, 2024 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-38717229

RESUMO

OBJECTIVE: Sarcomas of the bone and soft tissues are detected after the onset of pain, detectable mass and related symptoms in the absence of a standardized screening examination. However, primary chest wall sarcomas can be incidentally detected upon chest X-ray or computed tomography. Previous studies of incidental primary chest wall sarcomas lack prognosis and disease-specific clinical data. This study aimed to investigate the prognoses of patients with incidental chest wall sarcomas and compare them with those of symptomatic patients. METHODS: This study included 18 patients diagnosed with primary chest wall sarcoma between 2010 and 2023. Patient information such as age, sex, tumour diameter, tumour location, symptoms, treatment, time to treatment initiation, pathological diagnosis and outcome were retrospectively analysed. RESULTS: Among the 18 patients, the sarcomas were incidentally detected in five by chest X-ray and computed tomography in three and two patients, respectively. The pathological diagnoses of the patients were Ewing sarcoma, Chondrosarcoma grade 1, grade 2, periosteal osteosarcoma and malignant peripheral nerve sheath tumour. The patients had no symptoms at the first visit to our hospital, and no lesions in other organs were detected at the time of the initial examination. At the final follow-up, the patients remained disease-free after radical treatment. The tumour sizes of the five patients were significantly smaller than those of patients with symptoms (P = 0.003). CONCLUSIONS: The incidental detection of chest wall sarcomas and consequent early detection and treatment of tumours improves patient prognosis relative to that of symptomatically diagnosed patients.


Assuntos
Achados Incidentais , Sarcoma , Parede Torácica , Humanos , Masculino , Feminino , Parede Torácica/patologia , Parede Torácica/diagnóstico por imagem , Pessoa de Meia-Idade , Sarcoma/patologia , Sarcoma/diagnóstico por imagem , Sarcoma/diagnóstico , Sarcoma/terapia , Adulto , Prognóstico , Estudos Retrospectivos , Idoso , Adulto Jovem , Tomografia Computadorizada por Raios X , Adolescente , Neoplasias Torácicas/diagnóstico por imagem , Neoplasias Torácicas/patologia , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/terapia , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/patologia
4.
S D Med ; 77(4): 158-159, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38991159

RESUMO

Ewing sarcoma is a tumor primarily affecting children and young adults, and usually affects long bones. Extraosseous Ewing sarcoma (EES) is a rare primary tumor of soft tissues. We present a case of abdominal EES with metastasis to thoracic cavity, which presented as abdominal pain and vomiting in a 21-year-old previously healthy gentleman.


Assuntos
Abdome Agudo , Sarcoma de Ewing , Humanos , Masculino , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/complicações , Adulto Jovem , Abdome Agudo/etiologia , Abdome Agudo/diagnóstico , Neoplasias Abdominais/diagnóstico , Neoplasias Abdominais/complicações , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/complicações
5.
Cancer Sci ; 114(11): 4401-4412, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37732498

RESUMO

Comprehensive genomic profiling (CGP) is implemented to detect actionable gene aberrations and design matched therapies. Although malignant thoracic tumors are commonly detected through respiratory endoscopy, it is questionable whether the small specimens obtained thereof are sufficient for CGP. Therefore, this study aimed to investigate the suitability of respiratory endoscopy for sampling primary and metastatic thoracic tumors for CGP. Patients whose specimens were collected through respiratory endoscopy and assessed by pathologists to determine their suitability for CGP at our institution between June 2019 and May 2022 were reviewed retrospectively. The suitability of each procedure as a sampling technique for CGP and, in the cases actually analyzed, the distribution of the detected gene aberration were assessed. In total, 122 patients were eligible for analysis; the median age was 61 (range, 29-86) years, and 71 (58.2%) patients were male. Primary intrathoracic tumors were found in 91 (74.6%) cases, including 84 (68.9%) primary lung cancers; the remaining thoracic metastases of extrathoracic origin included various types. The suitability rates of specimens obtained using conventional bronchoscopy with and without cryobiopsy, endobronchial ultrasound-guided transbronchial needle aspiration, and medical thoracoscopy were 82.8% (24/29), 70.4% (19/27), 72.9% (35/48), and 100% (18/18), respectively. Of the 96 cases judged suitable, 83 were subjected to CGP, and all but one were successfully analyzed. Finally, 47 (56.6%) patients had at least one actionable gene aberration and eight (9.6%) were treated with the corresponding targeted therapies. In conclusion, specimens obtained through respiratory endoscopy are suitable for CGP; medical thoracoscopy and cryobiopsy in conventional bronchoscopy are particularly useful.


Assuntos
Neoplasias Pulmonares , Neoplasias Torácicas , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Estudos Retrospectivos , Neoplasias Torácicas/genética , Neoplasias Torácicas/diagnóstico , Broncoscopia/métodos , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Genômica , Neoplasias Pulmonares/patologia
6.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(2): 351-356, 2023 Apr 18.
Artigo em Zh | MEDLINE | ID: mdl-37042149

RESUMO

We explored clinicopathological features and treatment strategies for thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT). Thoracic SMARCA4-UT is a new entity recently acknowledged in the 2021 edition of World Health Organization Classification of Thoracic Tumors, and doctors are relatively unfamiliar with its diagnosis, treatment, and prognosis. Taking a case of SMARCA4-UT treated in Peking University First Hospital as an example, this multi-disciplinary discussion covered several hot issues on diagnosing and treating thoracic SMARCA4-UT, including histological features, immu- nohistochemical and molecular phenotype, immune checkpoint inhibitor (ICI) therapy, and pathological assessment of neoadjuvant therapy response. The patient was an older man with a long history of smoking and was admitted due to a rapidly progressing solid tumor in the lower lobe of the right lung. Histologically, tumor cells were epithelioid, undifferentiated, diffusely positive for CD34, and partially positive for SALL4.The expression of BRG1 protein encoded by SMARCA4 gene was lost in all of tumor cells, and next-generation sequencing(NGS)confirmed SMARCA4 gene mutation (c.2196T>G, p.Y732Ter). The pathological diagnosis reached as thoracic SMARCA4-UT, and the preoperative TNM stage was T1N2M0 (ⅢA). Tumor proportion score (TPS) detected by immunohistochemistry of programmed cell death 1-ligand 1 (PD-L1, clone SP263) was 2%. Tumor mutation burden (TMB) detected by NGS of 1 021 genes was 16. 3/Mb. Microsatellite detection showed the tumor was microsatellite stable (MSS). Neo-adjuvant therapy was implemented with the combined regimen of chemotherapy and ICI. Right lower lobectomy was performed through thoracoscopy after the two weeks' neoadjuvant. The pathologic assessment of lung tumor specimens after neoadjuvant therapy revealed a complete pathological response (CPR). The post-neoadjuvant tumor TNM stage was ypT0N0M0. Then, five cycles of adjuvant therapy were completed. Until October 2022, neither tumor recurrence nor metastasis was detected, and minimal residual disease (MRD) detection was negative. At present, it is believed that if BRG1 immunohistochemical staining is negative, regardless of whether SMARCA4 gene mutation is detected, it should be classified as SMARCA4-deficient tumors. SMARCA4-deficient tumors include a variety of carcinomas and sarcomas. The essential criteria for diagnosing SMARCA4-UT includes loss of BRG1 expression, speci-fic histological morphology, and exclude other common thoracic malignant tumors with SMARCA4-deficiency, such as squamous cell carcinoma, adenocarcinoma and large cell carcinoma. SMARCA4-UT is a very aggressive malignant tumor with a poor prognosis. It has almost no targeted therapy mutations, and little response to chemotherapy, but ICI is currently the only effective drug. The successful diagnosis and treatment for this case of SMARCA4-UT should enlighten significance for various kinds of SMARCA4-deficient tumors.


Assuntos
Adenocarcinoma , Neoplasias Pulmonares , Neoplasias Torácicas , Humanos , Inibidores de Checkpoint Imunológico , Recidiva Local de Neoplasia , Neoplasias Pulmonares/genética , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/genética , Neoplasias Torácicas/patologia , DNA Helicases , Proteínas Nucleares , Fatores de Transcrição
7.
Khirurgiia (Mosk) ; (10): 60-70, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37916559

RESUMO

OBJECTIVE: To analyze the outcomes after different methods of post-resection chest wall defect reconstruction. MATERIAL AND METHODS: The study included 41 patients aged 22-73 years who underwent chest wall repair with local tissues and synthetic materials. Twelve (29.3±7.1%) patients had sarcoma, 9 (21.9±5.9%) - non-small cell lung cancer (NSCLC) with invasion of the chest, 9 (21.9±5.9%) - metastatic lesions, 8 (19.5±6.2%) - benign tumors, 2 (4.8±3.4%) - breast cancer with invasion of the chest wall, 1 (2.4±2.4%) - desmoid tumor. Seven patients were diagnosed with T3N0M0, 1 - T3N2M0, 1 - T2N0M1b (oss). Among patients with NSCLC with invasion into the chest wall, squamous cell cancer was verified in 4 (44.4±16.6%) patients, adenocarcinoma - in 4 (44.4±16.6%), neuroendocrine tumor - in 1 (11.2±10.5%) patient. Stages of surgeries are presented. RESULTS: We analyzed treatment outcomes in 41 patients. Five (12.2%) patients had seroma, hemothorax, thoracopleural fistula, subcutaneous emphysema and fatal asystole. There were no postoperative complications associated with paradoxical breathing. CONCLUSION: Accurate morphological verification prior to treatment is valuable to determine the stages of combined treatment of chest wall tumors. Chest wall defect closure with own tissues and synthetic materials is necessary after extensive resections. A multidisciplinary approach involving thoracic and plastic surgeons is needed.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Procedimentos de Cirurgia Plástica , Neoplasias Torácicas , Parede Torácica , Humanos , Parede Torácica/cirurgia , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/patologia , Resultado do Tratamento , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/cirurgia
8.
Khirurgiia (Mosk) ; (8): 20-30, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37530767

RESUMO

OBJECTIVE: To analyse safety and expediency of cardiac surgical technologies including cardiopulmonary bypass (CPB) in patients with locally advanced lung cancer and invasive tumors of the mediastinum. MATERIAL AND METHODS: Cardiac surgical techniques and CPB were used in 23 patients (group 1) with locally advanced thoracic tumors between 2005 and 2015. For the same period, there were 22 patients (group 2) who underwent combined surgeries and could have had similar techniques. However, these techniques were not used for various reasons. Mediastinal malignancies and non-small cell lung cancer were diagnosed in 26 (57.8%) and 19 (42.2%) patients, respectively. Invasion of superior vena cava (n=15), aorta (n=13) and pulmonary artery (n=12) was the most common. Lesion of innominate vein (n=8), left atrium (n=6) and innominate artery (n=4) was less common. A total of 21 pneumonectomies were performed (14 in the first group and 7 in the second group). Lobectomy was less common (one patient in each group). Sublobar lung resection was performed in 10 patients (2 patients in the first group and 8 ones in the second group). All resections were total in the first group (R0) that was confirmed by routine morphological examination of resection margins of different organs and vessels. The situation was worse in the second group (R1 in 19 (86.4%) patients, R2 in 3 (13.6%) patients). RESULTS: Total postoperative morbidity was 53.3%, mortality - 8.2%. These values are higher compared to patients undergoing surgical treatment for thoracic malignancies. Incidence of postoperative complications was higher in the first group (16 (69.6%) and 8 (36.4%), respectively). Four patients died in the first group. Sepsis (n=2), acute right ventricular failure (n=1) and acute myocardial infarction (n=1) caused death. There were no lethal outcomes in the second group. Various postoperative complications were diagnosed only in 8 (36.4%) patients. The long-term results were followed-up in 80% of patients. In the first group, 3- and 5-year survival rates were 30.5% and 25%, respectively (median 43.8 months). In the second group, these values were 25% and 2%, respectively (median 24.9 months). Long-term mortality in the second group was caused by progression of malignant process, including local recurrence, after palliative surgery (R1, R2 resection). CONCLUSION: Higher risk of postoperative complications and mortality in patients undergoing on-pump surgery is compensated by significantly better long-term results. Further progress is associated with higher safety of CPB, as well as solving some organizational and educational problems.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Neoplasias Torácicas , Humanos , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirurgia , Veia Cava Superior/cirurgia , Estudos de Viabilidade , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/cirurgia , Neoplasias Torácicas/patologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/patologia , Estudos Retrospectivos
9.
Monaldi Arch Chest Dis ; 92(4)2022 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-35172568

RESUMO

The incidence rate of tuberculosis in developed countries is low. The most common presentation of this disease is its pulmonary form but with the increasing use of immunosuppressive drugs, extra-pulmonary tuberculosis is re-emerging. Nevertheless, sternal bone involvement is uncommon. We report the case of an eighty-three-year-old man who presented a painful sternal mass which progressed towards cutaneous ulceration. The first diagnostic hypothesis was neoplasia. The pathological and microbiological diagnosis of tuberculosis was achieved after surgical biopsy. The patient received treatment against tuberculosis for nine months enabling recovery without surgery. This case illustrates the importance of having a diagnosis prior to any kind of treatment facing any voluminous parietal thoracic lesions.  This diagnosis is made possible by surgical samples and interdisciplinary teamwork. This case underlines that tuberculosis remains a differential diagnosis that must be evoked in case of unusual bone mass.


Assuntos
Ilusões , Neoplasias Torácicas , Parede Torácica , Tuberculose , Idoso de 80 Anos ou mais , Humanos , Masculino , Esterno/microbiologia , Esterno/patologia , Neoplasias Torácicas/diagnóstico , Tuberculose/diagnóstico
10.
J Surg Res ; 260: 149-154, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33340868

RESUMO

BACKGROUND: Primary sarcomas of the chest wall are rare aggressive tumors. Surgery is part of the multimodal treatment. We describe our institutional patient cohort and evaluate prognostic factors. METHODS: All patients who had curative intent surgery for primary chest wall sarcoma from 2004 to 2019 were retrospectively reviewed. Impact on survival-calculated from the date of surgery until last follow-up- was assessed for the following variables: age, gender, type of resection, size, grading, stage, completeness of resection, and neoadjuvant and adjuvant therapy. RESULTS: Twenty-three patients (15 males, 65%) with a median age of 54 y (4 to 82) were included. Most common histology was chondrosarcoma (n = 5, 22%). Seven patients (30%) received neoadjuvant and 13 patients (57%) received adjuvant treatment. R0 resection was achieved in 83%. Extended chest wall resection was performed in 14 patients (61%), including lung (n = 13, 57%), diaphragm (n = 2, 9%) and pericardium (n = 1, 4%). Morbidity and 90-day mortality were 23% and 0%, respectively. Three- and 5-year overall survival was 53% and 35%, respectively. R0 resection was predictor of overall survival (P = 0.029). Tumor grade and extended resections were predictors for recurrence (P = 0.034 and P = 0.018, respectively). CONCLUSIONS: Surgical resection of primary chest wall sarcoma is a safe procedure even when extended resection is required.


Assuntos
Sarcoma/cirurgia , Neoplasias Torácicas/cirurgia , Parede Torácica/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Sarcoma/diagnóstico , Sarcoma/mortalidade , Análise de Sobrevida , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/mortalidade , Resultado do Tratamento , Adulto Jovem
11.
Cytopathology ; 32(4): 416-427, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33606285

RESUMO

INTRODUCTION: The objectives were: to measure the proportion of aspirated material used to make direct slides for rapid onsite evaluation (ROSE) at endobronchial (EBUS) and endoscopic ultrasound (EUS) in suspected thoracic malignancy; and to correlate pass weights with ROSE category and needle size. METHOD: All EBUS and EUS cases for possible thoracic malignancy October 2018-May 2019 were included. All material from each pass was expelled into a Petri dish. One drop of material was placed on each of two slides; one used for ROSE, the other fixed and remaining material processed to cell block. Dish and slides were weighed before and after this procedure on a sensitive balance and weight of aspirate and slide material calculated. When ROSE identified malignancy, slide production ceased but target sampling for ancillary studies continued. RESULTS: ROSE accuracy was 96.8%. Mean percentage by target of aspirated material used to make direct slides for ROSE was 1.9% in malignant cases and 3.6% in non-malignant cases (P = .027 for difference). Mean percentage by pass was 5.9%. Mean weight of a single aspirate was 128.8 mg. Mean weight of aspirates insufficient on ROSE (175.7 mg) was significantly higher than the mean weight of benign or malignant aspirates (117.1 and 114.0 mg, respectively). Mean weight of aspirates using 22G needles (132.6 mg) was significantly higher than that for 25G needles (87.1 mg). CONCLUSION: Material made into direct slides at EBUS and EUS and used in part for ROSE uses a tiny proportion of aspirated material with over 98% processed to cell block and available for ancillary testing in malignant cases.


Assuntos
Broncoscopia , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Endossonografia , Avaliação Rápida no Local , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
Ann Diagn Pathol ; 54: 151800, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34464935

RESUMO

BACKGROUND: Challenging emerging entities with distinctive molecular signatures may benefit from algorithms for diagnostic work-up. METHODS: Fusion sarcomas (2020-2021, during pandemic) were diagnosed by clinicoradiology, morphology, phenotype, and next-generation sequencing (NGS). RESULTS: Six fusion sarcomas in two males and four females involved the chest-wall, neck, or extremities; ages ranged 2-73, median 18 years. Sizes ranged 5.3-25.0, median 9.1 cm. These include high grade 1) TPR-NTRK1 of proximal femur with a larger rounded soft tissue mass, previously considered osteosarcoma yet without convincing tumor matrix. A pathologic fracture necessitated emergency hemipelvectomy (NED) and 2) novel KANK1-NTRK2 sarcoma of bone and soft tissue with spindled pleomorphic to epithelioid features (AWD metastases). 3) Novel ERC1-ALK unaligned fusion, a low grade infiltrative deep soft tissue hand sarcoma with prominent-vascularity, myopericytoid/lipofibromatosis-like ovoid cells, and collagenized stroma, was successfully treated with ALK-inhibitor (Crizotinib), avoiding amputation. These NTRK and ALK tumors variably express S100 and CD34 and were negative for SOX10. 4) and 5) CIC-DUX4 round cell tumors (rapid metastases/demise), one with COVID superinfection, were previously treated as Ewing sarcoma. These demonstrated mild pleomorphism and necrosis, variable myxoid change and CD99 reactivity, and a distinctive dot-like-Golgi WT1 immunostaining pattern. 6) A chest wall/thoracic round cell sarcoma, focal CD34/ keratins/CK7, revealed nuclear-STAT6, STAT6-NAB2 by NGS, confirming malignant solitary fibrous tumor, intermediate-risk-stratification (AWD metastases). CONCLUSIONS: Recent fusion sarcomas include new KANK1-NTRK2 and ERC1-ALK, the latter successfully treated by targeted-therapy. ALK/NTRK fusion partners TPR and KANK1 suggest unusual high-grade morphology/behavior. Clinicoradiologic, morphologic, and phenotypic algorithms can prompt molecular-targeted immunostains or NGS for final classification and promising inhibitor therapy.


Assuntos
Biomarcadores Tumorais/genética , Neoplasias Femorais/genética , Fusão Gênica , Neoplasias de Cabeça e Pescoço/genética , Sarcoma/genética , Neoplasias de Tecidos Moles/genética , Neoplasias Torácicas/genética , Adolescente , Adulto , Idoso , Algoritmos , Antineoplásicos/uso terapêutico , Criança , Pré-Escolar , Extremidades/patologia , Feminino , Neoplasias Femorais/diagnóstico , Neoplasias Femorais/tratamento farmacológico , Neoplasias Femorais/patologia , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Fenótipo , Prognóstico , Sarcoma/diagnóstico , Sarcoma/tratamento farmacológico , Sarcoma/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/patologia , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/tratamento farmacológico , Neoplasias Torácicas/patologia , Parede Torácica/patologia , Adulto Jovem
13.
Mod Pathol ; 33(8): 1571-1580, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32203089

RESUMO

INSM1 is a diagnostic marker for neuroendocrine tumors originating in multiple anatomic sites. In the lung, INSM1 shows 76-97% sensitivity for neuroendocrine tumors overall. Our aim was to characterize INSM1 as a diagnostic marker for small cell carcinoma in the context of its epithelial, lymphoid, and mesenchymal morphologic mimics. Immunohistochemistry was performed on 231 tumors, including lung neuroendocrine tumors, nonneuroendocrine carcinomas of the thoracic cavity, diffuse large B-cell lymphomas, and small round cell sarcomas, using an anti-INSM1 mouse monoclonal antibody. Extent (0-100%) and intensity (1-3+) of nuclear INSM1 staining was multiplied in each case to calculate an H-score. Demographic and clinical information was obtained from the medical record. INSM1 had an overall sensitivity and specificity of 81.5% and 82.7% for small cell carcinoma, respectively, using a threshold established with a receiver operating characteristic curve. 40/48 (82.7%) small cell carcinomas were positive for INSM1, including 19/24 (79%) small cell carcinomas that were negative for chromogranin and synaptophysin. 5/5 carcinoids and 21/28 (75%) large cell neuroendocrine carcinomas showed INSM1 expression. Among nonneuroendocrine tumors, 7/38 (18%) lung adenocarcinomas, 2/17 (12%) lung squamous cell carcinomas, 4/10 (40%) thymic carcinomas, 4/12 (33%) adenoid cystic carcinomas, 1/19 (5%) diffuse large B-cell lymphomas, 4/11 (36%) alveolar rhabdomyosarcomas, and 4/23 (17%) Ewing sarcomas were positive for INSM1. No synovial sarcomas or desmoplastic small round cell tumors were positive. Weak, focal INSM1 expression alone is insufficient as a diagnostic marker for small cell carcinoma, but is sensitive and specific, easy to interpret in small biopsies, and makes a valuable addition to a diagnostic panel.


Assuntos
Biomarcadores Tumorais/metabolismo , Neoplasias Pulmonares/diagnóstico , Proteínas Repressoras/biossíntese , Carcinoma de Pequenas Células do Pulmão/diagnóstico , Idoso , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Repressoras/análise , Sensibilidade e Especificidade , Neoplasias Torácicas/diagnóstico
14.
Int J Mol Sci ; 21(17)2020 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-32825667

RESUMO

Extracellular vesicles (EVs), such as exosomes, are critical mediators of intercellular communication between tumor cells and other cells located in the microenvironment but also in more distant sites. Exosomes are small EVs that can carry a variety of molecules, such as lipids, proteins, and non-coding RNA, especially microRNAs (miRNAs). In thoracic cancers, including lung cancers and malignant pleural mesothelioma, EVs contribute to the immune-suppressive tumor microenvironment and to tumor growth and metastasis. In this review, we discuss the recent understanding of how exosomes behave in thoracic cancers and how and why they are promising liquid biomarkers for diagnosis, prognosis, and therapy, with a special focus on exosomal miRNAs.


Assuntos
Vesículas Extracelulares/patologia , Neoplasias Torácicas/patologia , Microambiente Tumoral , Biomarcadores Tumorais/análise , Ensaios Clínicos como Assunto , Vesículas Extracelulares/genética , Vesículas Extracelulares/metabolismo , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Pulmonares/patologia , MicroRNAs , Prognóstico , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/imunologia , Neoplasias Torácicas/terapia
15.
Heart Lung Circ ; 29(10): 1566-1570, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32280015

RESUMO

BACKGROUND: To our knowledge, this is the first time that a three-dimensional (3D)-printed model was used as an intraoperative template to recreate the resected portion of the lateral chest wall after resection of a large chest-wall tumour. METHODS: Fabrication of 3D-printed models requires collaboration among a surgeon, radiologist, segmenter, and 3D printing centre. Three-dimensional models are created with computed tomographic and magnetic resonance data. These models can provide an accurate guide for surgical resection and can be used intraoperatively as a template to construct tailored prostheses. RESULTS: We achieved complete resection of the chest wall defect, restored skeletal function and physiologic chest excursion, and achieved the best cosmetic appearance in all cases. CONCLUSIONS: Small- to medium-sized chest wall defects can be repaired with musculocutaneous flaps with or without prosthetic materials, but more complicated defects require increasingly sophisticated reconstructive techniques and technologies. An advanced technique is the use of a 3D-printed model of the chest wall as an intraoperative template.


Assuntos
Impressão Tridimensional , Próteses e Implantes , Neoplasias Torácicas/cirurgia , Parede Torácica/diagnóstico por imagem , Toracoplastia/métodos , Humanos , Desenho de Prótese , Neoplasias Torácicas/diagnóstico , Parede Torácica/cirurgia , Tomografia Computadorizada por Raios X
16.
Ann Pathol ; 40(2): 120-133, 2020 Apr.
Artigo em Francês | MEDLINE | ID: mdl-32035641

RESUMO

About 5% of gastroenteropancreatic and thoracic neuroendocrine neoplasms (NENs) arise in the context of an inherited tumour syndrome. The two most frequent syndromes are: multiple endocrine neoplasia type 1 (MEN1), associated with a large spectrum of endocrine and non endocrine tumours, including duodenopancreatic, thymic and bronchial NENs, and the von Hippel-Lindau syndrome VHL, associated with pancreatic NENs. Two inherited syndromes have a low incidence of NENs: neurofibromatosis type 1 (NF1), associated with duodenal somatostatinomas, and tuberous sclerosis (TSC), associated with pancreatic NENs. Two rare syndromes have a high incidence of NENs: multiple endocrine neoplasia type 4 (MEN4), with a tumour spectrum similar to that of MEN1, and glucagon cell hyperplasia neoplasia (GCHN), involving only the pancreas. It is likely that other syndromes remain to be characterized, especially in familial small-intestinal NENs. The diagnosis is usually raised because of the suggestive clinical setting: young age at diagnosis, multiple tumours in multiple organs, familial history. Except in VHL and NF1, tumours themselves do not show specific pathological features; they usually are well differentiated and of low histological grade; their prognosis is good, except for MEN1-associated thymic NENs. The most suggestive pathological feature is their combination with various endocrine and/or non endocrine lesions in the adjacent tissue. Pathological examination is important, for a correct diagnosis and for an accurate management of the patients and their families, who must be referred to expert centers.


Assuntos
Síndromes Neoplásicas Hereditárias , Tumores Neuroendócrinos/patologia , Neoplasias Duodenais/diagnóstico , Predisposição Genética para Doença , Humanos , Neoplasias Intestinais/complicações , Neoplasias Intestinais/diagnóstico , Neoplasias Intestinais/genética , Neoplasias Intestinais/patologia , Intestinos/patologia , Neoplasia Endócrina Múltipla/complicações , Neoplasia Endócrina Múltipla/diagnóstico , Neoplasia Endócrina Múltipla/genética , Neoplasia Endócrina Múltipla/patologia , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 1/patologia , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/patologia , Tumores Neuroendócrinos/complicações , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/genética , Pâncreas/patologia , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Neoplasias Gástricas/complicações , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/patologia , Neoplasias Torácicas/diagnóstico , Tórax/patologia , Esclerose Tuberosa/etiologia , Esclerose Tuberosa/patologia , Doença de von Hippel-Lindau/complicações , Doença de von Hippel-Lindau/diagnóstico , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/patologia
17.
Wiad Lek ; 73(3): 614-618, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32285844

RESUMO

Tumours and tumorous lesions of head and neck account for 10% of all oncological pathologies. Branhyogenic cancer is found in 4.5% of patients with lateral cysts in the neck. The article highlights the results of research the clinical case of branhyogenic cancer, provide its clinical and morphological analysis. The aim of our work was to study the clinical case of bronchial cancer, providing clinical and pathomorphological analysis. Examination and treatment was conducted in accordance with the clinical protocol using the diagnostic criteria necessary for management of patients diagnosed with tumours and tumorous lesions in a particular clinical case. We applied ultrasound examination of the locus, angiography of head and neck vessels with tomohexol and with 3D reconstruction, histological examination of surgical specimens (macroscopy and microscopy). On the basis of clinical investigaton, ultrasound examination, angiography clinical diagnosis was formulated - lateral cyst on the left side of the neck. A radical surgical removal of the mass was conducted. Histopathological conclusion: there is a proliferation of cystic transitional cell epithelium with the locus of invasive squamous cell carcinoma in the cystic wall that suggests malignant transformation of bronchogenic cyst. Final diagnosis: branhyogenic cancer. Thorough examination and analysis of a clinical case demonstrates that the development of branhyogenic cancer, is histo-genetically associated with lateral cysts in the neck. Complexity of diagnosing and high percentage of malignancy induces to more early discovery and removal of lateral cysts in the neck.


Assuntos
Neoplasias Torácicas/diagnóstico , Transformação Celular Neoplásica , Diagnóstico Diferencial , Humanos , Pescoço , Ultrassonografia
18.
Eur Radiol ; 29(5): 2553-2559, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30547199

RESUMO

OBJECTIVES: Increasing awareness of potential side effects from gadolinium-based contrast agents has underlined the need for contrast-free magnetic resonance imaging (MRI). Numerous recent articles evaluated the risk of potential brain deposits, with the result that research is putting the focus more on alternative unenhanced imaging techniques. The aim of this study was to determine the need for contrast media for chest MRI in primary staging and follow-up care of lymphoma. METHODS: This monocentric, retrospective study encompassed patients under 25 years of age who had undergone histopathological examination of thoracic lymph nodes and at least one chest MRI examination with unenhanced and contrast-enhanced sequences. Seven different thoracic lymph node stations including mediastinal, hilar, periclavicular, and axillary regions were evaluated by two readers regarding lesion diameter, number, shape, necrosis, and infiltration of surrounding structures. Findings were categorized into suspicious (> 1 cm; round; necrosis; infiltration) or non-suspicious. RESULTS: Fifty-one patients (mean age, 16.0 ± 3.7 yrs) with thoracic Hodgkin (70.6%) and non-Hodgkin lymphoma (25.5%) and lymphadenopathy (3.9%) were retrospectively included. Most lymph nodes categorized as suspicious were located in the mediastinal station (86.4%). High agreement (κ = 0.81) between unenhanced and contrast-enhanced sequences was found for both suspicious and non-suspicious lymph nodes. Significant (p < 0.001), but small difference (1 mm) was observed only in sizing mediastinal lymph nodes (all other p > 0.05). No significant difference (smallest p = 0.08) was shown for the use of five different types of contrast media. CONCLUSION: MRI in young patients with thoracic lymphoma can safely be done without the use of contrast agent. KEY POINT: • Thoracic magnetic resonance imaging in young lymphoma patients can safely be done without gadolinium-based contrast agents.


Assuntos
Linfoma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Compostos Organometálicos/farmacologia , Neoplasias Torácicas/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Meios de Contraste/farmacologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Adulto Jovem
19.
Eur Radiol ; 29(8): 4303-4314, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30350166

RESUMO

OBJECTIVE: To investigate the incidence of thoracic recurrence and the diagnostic value of chest CT for postoperative surveillance in curatively-resected colorectal cancer (CRC) patients. METHODS: This retrospective study consisted of 648 CRC patients (M:F, 393:255; mean age, 66.2 years) treated with curative surgery between January 2010 and December 2012. The presence of CRC recurrence over follow-ups was analysed and recurrence-free survival and risk factors of recurrence were assessed using Kaplan-Meier analysis with log-rank test and Cox-regression analysis, respectively. RESULTS: Over a median follow-up of 57 months, thoracic recurrence occurred in 8.0% (52/648) of patients with a median recurrence-free survival rate of 19.5 months. Among the 52 patients with thoracic recurrence, 18 (2.7%) had isolated thoracic recurrence, and only five (0.8%) were diagnosed through chest CT. Risk factors of overall thoracic recurrence included age, positive resection margin, presence of venous invasion, positive pathologic N-class, and presence of abdominal recurrence (odds ratio [OR] = 1.78, 19.691, 2.993, 2.502, and 31.137; p = 0.045, 0.004, 0.001, 0.005, and p < 0.001, respectively). As for isolated thoracic recurrence, serum carcinoembryonic antigen level ≥ 5 ng/mL during postoperative follow-up (OR = 9.112; p < 0.001) was demonstrated to be the only predictive factor. There were no thoracic recurrences in patients with CRC stages 0 and I. CONCLUSION: In patients with curatively-resected CRCs, routine surveillance using chest CT may be of limited value, particularly in those with CRC stages 0 or I, as recurrence only detectable through chest CT was shown to be rare. KEY POINTS: • Postoperative thoracic recurrence only detectable through chest CT was shown to be rare. • There were no thoracic recurrences in colorectal cancers stage 0 and I. • Postoperative surveillance chest CT is of limited value in patients with curatively resected colorectal cancers.


Assuntos
Colectomia , Neoplasias Colorretais/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Neoplasias Torácicas/epidemiologia , Tomografia Computadorizada por Raios X/métodos , Idoso , Biomarcadores Tumorais/sangue , Antígeno Carcinoembrionário/sangue , Neoplasias Colorretais/secundário , Neoplasias Colorretais/cirurgia , Feminino , Humanos , Incidência , Masculino , Período Pós-Operatório , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Neoplasias Torácicas/diagnóstico
20.
Future Oncol ; 15(14): 1551-1563, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30852916

RESUMO

Aim: To describe I-O Optimise, a multinational program providing real-world insights into lung cancer management. Materials & methods: Real-world data source selection for I-O Optimise followed a structured approach focused on population coverage, key variable capture, continuous/consistent data availability, record duration and data latency, and database expertise. Results: As of 31 October 2018, seven real-world data sources were included in I-O Optimise, providing data on characteristics, treatment patterns and clinical outcomes from more than 45,000 patients/year with non-small-cell lung cancer, small-cell lung cancer and mesothelioma across Denmark, Norway, Portugal, Spain, Sweden and the UK. Conclusion: The ongoing I-O Optimise initiative has the potential to provide a broad, robust and dynamic research platform to continually address numerous research objectives in the lung cancer arena.


Assuntos
Informática Médica/métodos , Pesquisa , Neoplasias Torácicas/epidemiologia , Bases de Dados Factuais , Gerenciamento Clínico , Europa (Continente) , Saúde Global , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/terapia , Assistência ao Paciente , Avaliação de Resultados da Assistência ao Paciente , Padrões de Prática Médica , Vigilância em Saúde Pública , Neoplasias Torácicas/diagnóstico , Neoplasias Torácicas/terapia
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