RESUMEN
Mesothelioma of the testicular vagina is a rare malignant tumour, most often discovered by chance. The rarity of this type of tumour has not led to the development of specific guidelines. Median survival is estimated at 30 months. The lack of data and official recommendations makes surgical and medical management and follow-up difficult. Men who have not undergone radical orchiectomy die very rapidly after diagnosis. The remission rate at 1 year post-orchidectomy is 47 %, the recurrence rate at 1 year is 53 % and 92 % of relapses occur within 5 years post-operatively. The treatment option of hemiscrotectomy in the first instance has rarely been used; a second-look resection with negative margins may be proposed. The usefulness of adjuvant chemotherapy and/or radiotherapy has not been clearly demonstrated. Local recurrence is accompanied by metastasis in 85 % of cases. In the case of metastatic cancer (15 %), the retro-peritoneal, inguinal and iliac lymph nodes may be invaded. Follow-up by injected thoraco-abdomino-pelvic CT scan is recommended every 3 months for 2 years, then once a year for 3 years, for a total of 5 years of close follow-up. The long-term recurrence rate is 3 %.
Le mésothéliome de la vaginale testiculaire est une tumeur maligne rare et souvent de découverte fortuite. Sa rareté d'apparition n'a pas permis de développer des recommandations spécifiques. La survie médiane est estimée à 30 mois. Le manque de recommandations officielles rend sa prise en charge chirurgicale, médicale et son suivi difficiles. Les hommes n'ayant pas bénéficié d'orchidectomie radicale décèdent très rapidement après le diagnostic. Le taux de rémission à 1 an post-orchidectomie est de 47 %, le taux de récurrence à 1 an est de 53 % et 92 % des rechutes se font endéans les 5 ans post-opératoires. L'option thérapeutique par hémi-scrotectomie en première intention a rarement été pratiquée, une résection de «second look¼ en marges saines peut être proposée. L'utilité d'une chimiothérapie et/ou d'une radiothérapie adjuvante n'a pas été clairement démontrée. Une rechute locale est accompagnée de métastases dans 85 % des cas. En cas de cancer d'emblée métastatique (15 %), les relais ganglionnaires rétro-péritonéaux, inguinaux et iliaques peuvent être envahis. Un suivi par scanner thoraco-abdomino-pelvien injecté est recommandé tous les 3 mois pendant 2 ans, puis 1 fois par an pendant 3 ans pour un total de 5 ans. Le taux de récidive au long cours est de 3 %.
Asunto(s)
Neoplasias Testiculares , Neoplasias Vaginales , Humanos , Masculino , Neoplasias Testiculares/terapia , Neoplasias Testiculares/diagnóstico , Neoplasias Testiculares/patología , Neoplasias Vaginales/terapia , Neoplasias Vaginales/diagnóstico , Neoplasias Vaginales/patología , Mesotelioma/terapia , Mesotelioma/diagnóstico , Mesotelioma/patología , Mesotelioma Maligno/terapia , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/patología , Orquiectomía , Femenino , Neoplasias Pulmonares/terapia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologíaRESUMEN
BACKGROUND Malignant peritoneal mesothelioma (MPM) is a rare, lethal tumor of serous membranes. The most common factor reported in association with MPM is asbestos exposure, while viral infections, genetic predisposition, paraneoplastic syndrome, and altered immunity have been described as well. The diagnosis can be challenging among those with lower tumor burden as well as nonspecific symptoms, and it is not unusual to discover the diagnosis incidentally. CASE REPORT A middle-aged woman with decompensated cirrhosis underwent extensive pre-transplant workup, showing no evidence of malignancy. She had a personal history of asbestos exposure and family history of MPM in the extended family. During transplant surgery, a few peritoneal nodules were noted, leading to termination of the procedure. Pathological analysis confirmed malignant MPM. A multidisciplinary discussion led to following a conservative treatment approach without any intervention, due to higher risk of worsening hepatic decompensation associated with peritonectomy and intraperitoneal chemotherapy. The patient's hepatic decompensation resolved 6 months after the aborted liver transplant operation. Since the diagnosis of MPM, positron emission tomography scans have shown no recurrence of MPM for 3 consecutive years. CONCLUSIONS This is the first case of MPM diagnosed incidentally during a liver transplantation surgery. This case highlights the challenges in the diagnosis and management of MPM in a patient with decompensated liver disease. A multidisciplinary approach and following a consensus decision led to prolonged survival in the described patient.
Asunto(s)
Hallazgos Incidentales , Trasplante de Hígado , Mesotelioma Maligno , Neoplasias Peritoneales , Humanos , Femenino , Neoplasias Peritoneales/diagnóstico , Persona de Mediana Edad , Mesotelioma Maligno/diagnóstico , Mesotelioma/diagnóstico , Neoplasias Pulmonares/diagnósticoRESUMEN
We developed a composite symptom score (CSS) representing disease-related symptom burden over time in patients with malignant pleural mesothelioma (MPM). Longitudinal data were collected from an open-label Phase IIB study in which 239 patients completed the validated MD Anderson Symptom Inventory for MPM (MDASI-MPM). A blinded, independent review committee of external patient-reported outcomes experts advised on MDASI-MPM symptoms to include in the CSS. Through iterative analyses of potential symptom-item combinations, 5 MPM symptoms (pain, fatigue, shortness of breath, muscle weakness, coughing) were selected. The CSS correlated strongly with the full MDASI-MPM symptom set (0.92-0.94) and the Lung Cancer Symptom Scale-Mesothelioma (0.79-0.87) at each co-administration of the scales. The CSS also had good sensitivity to worsening disease and global quality-of-life ratings. The MDASI-MPM CSS can be used as an outcome in MPM clinical trials, including in responder analyses and at the individual patient level. It is brief enough to administer frequently, including electronically, to better capture symptom trajectories during and after a trial and in clinical practice. As a single score, the CSS addresses multiplicity issues that can arise when several symptoms increase due to worsening disease. Our process can be adapted to produce a CSS for other advanced-cancer trials.
Asunto(s)
Mesotelioma Maligno , Neoplasias Pleurales , Calidad de Vida , Humanos , Mesotelioma Maligno/tratamiento farmacológico , Mesotelioma Maligno/patología , Mesotelioma Maligno/diagnóstico , Masculino , Femenino , Neoplasias Pleurales/diagnóstico , Anciano , Persona de Mediana Edad , Neoplasias Pulmonares/diagnóstico , Mesotelioma/diagnóstico , Medición de Resultados Informados por el Paciente , Fatiga , Evaluación de Síntomas , Estudios Longitudinales , Índice de Severidad de la Enfermedad , Carga SintomáticaRESUMEN
Imaging continues to gain a greater role in the assessment and clinical management of patients with mesothelioma. This communication summarizes the oral presentations from the imaging session at the 2023 International Conference of the International Mesothelioma Interest Group (iMig), which was held in Lille, France from June 26 to 28, 2023. Topics at this session included an overview of best practices for clinical imaging of mesothelioma as reported by an iMig consensus panel, emerging imaging techniques for surgical planning, radiologic assessment of malignant pleural effusion, a radiomics-based transfer learning model to predict patient response to treatment, automated assessment of early contrast enhancement, and tumor thickness for response assessment in peritoneal mesothelioma.
Asunto(s)
Mesotelioma , Neoplasias Pleurales , Humanos , Mesotelioma/diagnóstico , Mesotelioma/diagnóstico por imagen , Mesotelioma/patología , Neoplasias Pleurales/diagnóstico , Neoplasias Pleurales/diagnóstico por imagen , Neoplasias Pleurales/patología , Mesotelioma Maligno/patología , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/diagnóstico por imagen , Diagnóstico por Imagen/métodos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patologíaRESUMEN
Pleural mesothelioma (PM) is a highly aggressive tumor that is caused by asbestos exposure and lacks effective therapeutic regimens. Current procedures for PM diagnosis are invasive and can take a long time to reach a definitive result. Small extracellular vesicles (sEVs) have been identified as important communicators between tumor cells and their microenvironment via their cargo including circular RNAs (circRNAs). CircRNAs are thermodynamically stable, highly conserved, and have been found to be dysregulated in cancer. This study aimed to identify potential biomarkers for PM diagnosis by investigating the expression of specific circRNA gene pattern (hsa_circ_0007386) in cells and sEVs using digital polymerase chain reaction (dPCR). For this reason, 5 PM, 14 non-PM, and one normal mesothelial cell line were cultured. The sEV was isolated from the cells using the gold standard ultracentrifuge method. The RNA was extracted from both cells and sEVs, cDNA was synthesized, and dPCR was run. Results showed that hsa_circ_0007386 was significantly overexpressed in PM cell lines and sEVs compared to non-PM and normal mesothelial cell lines (p < 0.0001). The upregulation of hsa_circ_0007386 in PM highlights its potential as a diagnostic biomarker. This study underscores the importance and potential of circRNAs and sEVs as cancer diagnostic tools.
Asunto(s)
Biomarcadores de Tumor , Vesículas Extracelulares , Mesotelioma , ARN Circular , Humanos , ARN Circular/genética , ARN Circular/metabolismo , Vesículas Extracelulares/metabolismo , Vesículas Extracelulares/genética , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Mesotelioma/genética , Mesotelioma/diagnóstico , Línea Celular Tumoral , Neoplasias Pleurales/genética , Neoplasias Pleurales/diagnóstico , Regulación Neoplásica de la Expresión Génica , Mesotelioma Maligno/genética , Mesotelioma Maligno/diagnósticoRESUMEN
BACKGROUND: Thoracoscopy is useful for diagnosing unexplained pleural effusions. A sufficient specimen volume is often difficult to obtain using forceps biopsies (FBs) but can be obtained with pleural cryobiopsies (CBs). This study aimed to assess the utility and safety of CB during thoracoscopy in the Japanese population. METHODS: Patients who underwent thoracoscopic CBs at the Japanese Red Cross Medical Center between January 2017 and August 2023 were included in the study. Data were retrospectively analyzed, including clinical data, thoracoscopic findings, specimen size, diagnostic yield, and complications. The number of collected specimens and the freezing time were left to the discretion of the attending physician. RESULTS: Twenty-six patients underwent thoracoscopic CB. Specimens obtained by CB were larger than those obtained by FB. Primary lung cancer was the most common cause of pleural effusion, followed by malignant pleural mesothelioma. CB contributed to the diagnosis in 24 of 26 cases (92.3%) and FB contributed to the diagnosis in 11 of 18 cases (61.1%). Severe fibrosis could be diagnosed in all 3 cases by CB, but not by FB. The common complications of CB included bleeding at the biopsy site and atelectasis, but no severe complications occurred. CONCLUSIONS: The utility and safety of thoracoscopic CB for diagnosing pleural effusions in Japan were verified. The diagnostic yield, specimen size, and safety profile of CB support the diagnostic utility of this method.
Asunto(s)
Neoplasias Pulmonares , Derrame Pleural , Toracoscopía , Humanos , Estudios Retrospectivos , Toracoscopía/métodos , Toracoscopía/efectos adversos , Masculino , Femenino , Anciano , Biopsia/métodos , Biopsia/efectos adversos , Japón , Persona de Mediana Edad , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Derrame Pleural/etiología , Derrame Pleural/patología , Anciano de 80 o más Años , Neoplasias Pleurales/diagnóstico , Neoplasias Pleurales/patología , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/patología , AdultoRESUMEN
The nomenclature and diagnostic criteria of well-differentiated papillary mesothelial tumour (WDPMT) have been changed in the 2021 World Health Organization (WHO) classification of thoracic tumours, and a new entity, mesothelioma in situ (MIS), introduced. Histologically these two entities may be similar. However, MIS is regarded as a precursor to invasive mesothelioma and requires demonstration of loss of BAP1 and/or MTAP/CDKN2A for diagnosis, whereas performance of these ancillary tests is desirable but not essential for a diagnosis of WDPMT, in which the significance of BAP1 and/or MTAP/CDKN2A loss is not well understood or well defined. Against this backdrop, we undertook an investigation of 21 cases of WDPMT, identified from our case files and diagnosed according to 2021 WHO criteria, to explore the relationship between histology and BAP1 and MTAP/CDKN2A expression with clinical features including asbestos exposure, focality of tumours and clinical outcome. There were 18 women and three men, with ages ranging from 23-77 years (median 62 years), in which six had a history of asbestos exposure, two had no exposure, and in 13 exposure history was unavailable. Of 20 peritoneal tumours and one pleural tumour, 13 were detected incidentally at the time of surgery for unrelated conditions and eight peritoneal tumours were multifocal at the time of diagnosis. BAP1 immunohistochemistry (IHC) was performed in all 21 tumours, with nine tumours showing BAP1 expression loss. MTAP/CDKN2A testing was performed in 14 tumours, comprising MTAP IHC in 12 and CDKN2A fluorescence in situ hybridisation (FISH) in two, with three tumours showing MTAP/CDKN2A expression loss. Two tumours with MTAP/CDKN2A loss also showed BAP1 expression loss. Four patients progressed to invasive mesothelioma, including one male with a pleural tumour and asbestos exposure, and three females with multifocal peritoneal tumours, two with asbestos exposure and one without exposure. BAP1 expression loss was seen in all tumours from the four patients who progressed to invasive mesothelioma, whilst two of these tumours showed retained MTAP IHC and two were not tested. There was one patient with a tumour with MTAP loss and retained BAP1 who died from unrelated causes 5 months after diagnosis. Eight patients received WDPMT-specific treatment in addition to the initial excision. Survival for all patients ranged from 4-218 months, with one patient dying of mesothelioma at 49 months. Based on our results in this series of 21 patients with WDPMT diagnosed according to 2021 WHO criteria, we propose that WDPMT with BAP1 expression loss may best be regarded as papillary MIS and that a history of asbestos exposure and the presence of multifocal tumours in patients diagnosed with WDPMT should prompt ancillary testing with BAP1 IHC. Further we propose that BAP1 IHC should be essential in the diagnosis of WDPMT, with the diagnosis restricted to those tumours which show retained BAP1 expression. However more studies in larger cohorts of patients are needed to explore the relationship between BAP1 expression and MTAP loss in WDPMT, which will help to define this entity and separate it more clearly from MIS and invasive mesothelioma.
Asunto(s)
Biomarcadores de Tumor , Inhibidor p16 de la Quinasa Dependiente de Ciclina , Mesotelioma , Proteínas Supresoras de Tumor , Ubiquitina Tiolesterasa , Humanos , Ubiquitina Tiolesterasa/metabolismo , Proteínas Supresoras de Tumor/metabolismo , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Inhibidor p16 de la Quinasa Dependiente de Ciclina/metabolismo , Mesotelioma/patología , Mesotelioma/metabolismo , Mesotelioma/diagnóstico , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/análisis , Purina-Nucleósido Fosforilasa/metabolismo , Adulto Joven , Mesotelioma Maligno/patología , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/metabolismo , Neoplasias Mesoteliales/patología , Neoplasias Mesoteliales/metabolismo , Neoplasias Mesoteliales/diagnóstico , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/diagnóstico , Neoplasias Pleurales/patología , Neoplasias Pleurales/metabolismo , Neoplasias Pleurales/diagnóstico , InmunohistoquímicaRESUMEN
BACKGROUND Malignant peritoneal mesothelioma is a rare disease with a poor prognosis that often presents with vague symptoms and inconclusive laboratory test results. Causes include industrial pollutants, primarily asbestos, and certain genetic mutations, such as BAP1. Due to the nonspecific symptoms, it is often incidentally diagnosed during or after other surgical procedures. CASE REPORT A 35-year-old healthy woman underwent an uncomplicated laparoscopic left salpingo-oophorectomy for a symptomatic large ovarian mature cystic teratoma. She subsequently presented with late-onset postoperative fever, leukocytosis, and multiple intra-abdominal masses. Following an exploratory laparotomy, extensive infectious disease evaluation, and multiple biopsies requiring interdisciplinary collaboration, malignant peritoneal mesothelioma was diagnosed by positive histologic staining of an omental biopsy for D2-40 and CK5/6. This first specimen was positive for BAP1, with the second, a liver biopsy, testing negative for BAP1. The tumor cell testing was also notable for mutations in NF2, MLL2, and ARID1A, and the hereditary cancer genetic testing was overall unremarkable. Her disease progressed rapidly, and she died 6 months after her initial procedure. CONCLUSIONS This case of rapidly developing malignant peritoneal mesothelioma following surgical management of an ovarian mature teratoma highlights the complexity in diagnosing a rare disease that presents with nonspecific symptoms in an otherwise young and healthy woman. The rapid disease course was likely accelerated by expansive intraperitoneal spread and multiple somatic oncogenic mutations in BAP1, NF2, MLL2, and ARID1A. Gynecologists should keep a broad differential for postoperative complications, as occult malignancies can present with symptoms that mimic postoperative complications.
Asunto(s)
Mesotelioma Maligno , Neoplasias Ováricas , Neoplasias Peritoneales , Complicaciones Posoperatorias , Humanos , Femenino , Adulto , Neoplasias Peritoneales/diagnóstico , Complicaciones Posoperatorias/diagnóstico , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/patología , Mesotelioma Maligno/diagnóstico , Resultado Fatal , Diagnóstico Diferencial , Progresión de la Enfermedad , Teratoma/diagnóstico , Teratoma/cirugía , Salpingooforectomía , Mesotelioma/diagnósticoRESUMEN
17-ß-estradiol, involved in mesothelioma pathogenesis, and its precursors were explored as potential biomarkers for the early diagnosis of mesothelioma. Using enzyme-linked immunosorbent assay(ELISA) for 17-ß-estradiol and ultra-high performance liquid chromatography/tandem mass spectrometry(UHPLC-MS/MS) for 19 17-ß-estradiol precursors, a comprehensive analysis of 20steroid hormones was conducted in the serum of mesothelioma patients(n=67), asbestos-exposed healthy subjects(n=39), and non-asbestos-exposed healthy subjects(n=35). Bioinformatics analysis explored three potential serum biomarkers: 17-ß-estradiol, DHEA-S, and androstenedione. The results revealed significant differences in 17-ß-estradiol levels between mesothelioma patients and both non-asbestos-exposed and asbestos-exposed healthy subjects. No significant variations in serum 17-ß-estradiol levels were observed among mesothelioma patients at different stages, suggesting its potential as an early diagnostic marker. 17-ß-estradiol levels were similar in mesothelioma patients with environmental and occupational asbestos exposure, while males with occupational asbestos exposure exhibited significantly higher levels of 17-ß-estradiol compared to females. Significant reduction in androstenedione and an increase in DHEA-S were observed in asbestos-exposed individuals compared to non-asbestos-exposed individuals. The analysis of DHEA-S-androstenedione-17-ß-estradiol signature score showed an increase in asbestos-exposed individuals and mesothelioma patients compared to non-asbestos-exposed individuals, and this score effectively distinguished between the groups. The Cancer Genome Atlas data was utilized to analyze the expression of 5-α-reductase1 and hydroxysteroid-17ß-dehydrogenase2 genes. The findings indicated that mesothelioma patients with elevated gene values for 5-α-reductase1 and hydroxysteroid-17ß-dehydrogenase2 have a worse or better prognosis on overall survival, respectively. In conclusion, this study suggests 17-ß-estradiol, DHEA-S, and androstenedione as biomarkers for mesothelioma risk and early diagnosis of mesothelioma in asbestos-exposed individuals, aiding timely intervention and improved care.
Asunto(s)
Androstenodiona , Amianto , Biomarcadores de Tumor , Estradiol , Neoplasias Pulmonares , Mesotelioma Maligno , Exposición Profesional , Humanos , Estradiol/sangre , Masculino , Biomarcadores de Tumor/sangre , Androstenodiona/sangre , Amianto/toxicidad , Amianto/efectos adversos , Femenino , Persona de Mediana Edad , Exposición Profesional/efectos adversos , Anciano , Mesotelioma Maligno/sangre , Mesotelioma Maligno/diagnóstico , Neoplasias Pulmonares/sangre , Neoplasias Pulmonares/diagnóstico , Mesotelioma/sangre , Mesotelioma/diagnóstico , Mesotelioma/inducido químicamente , Neoplasias Pleurales/sangre , Neoplasias Pleurales/diagnóstico , Neoplasias Pleurales/inducido químicamente , Deshidroepiandrosterona/sangre , Estudios de Casos y Controles , Detección Precoz del Cáncer/métodosRESUMEN
BACKGROUND: Malignant pleural mesothelioma (MPM) poses diagnostic challenges due to its resemblance to benign pleural pathologies and different histological subtypes. Several immunohistochemistry markers have been employed to aid in accurate diagnosis. METHODS: The present systematic review and meta-analysis aimed to assess the diagnostic performance of various immunohistochemistry markers in malignant pleural mesothelioma diagnosis and its histological subtypes. Following the PRISMA guidelines, we systematically searched the literature for articles on using different immunohistochemical markers in MPM and its histological subtypes. EMBASE, LILACS, MEDLINE, and Virtual Health Library were searched for studies published up to August 2023. We used the QUADAS-2 (Quality Assessment of Diagnostic Accuracy Studies) criteria to assess the quality of the included articles. Meta-analyses were performed to determine prevalence using a random-effects model. RESULTS: 103 studies met the inclusion criteria, comprising a diverse range of immunohistochemistry markers. EMA and desmin-loss exhibited high sensitivity (96% and 92%, respectively) in distinguishing malignant pleural mesothelioma from benign pleural pathologies. Specificity was notably high for both BAP1-loss and survivin expression at 100%. Subtype-specific analyses demonstrated that EMA and HEG1 were sensitive markers for epithelioid mesothelioma, while GLUT1 showed high sensitivity for sarcomatoid mesothelioma. In cases comparing epithelioid mesothelioma and lung adenocarcinoma, CAM5.2 and calretinin displayed high sensitivity, while WT1 and BAP1-loss demonstrated exceptional specificity for malignant epithelioid mesothelioma. In the case of sarcomatoid mesothelioma and sarcomatoid lung carcinoma, GATA3 exhibited the most heightened sensitivity, while GATA3 and D2-40 displayed the best specificity for sarcomatoid malignant mesothelioma diagnosis. CONCLUSION: Immunohistochemistry markers are essential in accurately diagnosing malignant pleural mesothelioma and its histological subtypes. This systematic review and meta-analysis provide a comprehensive insight into the diagnostic performance of these markers, facilitating their potential clinical utility in the discrimination of malignant pleural mesothelioma from other pleural pathologies and the differentiation of malignant pleural mesothelioma subtypes.
Asunto(s)
Biomarcadores de Tumor , Inmunohistoquímica , Mesotelioma Maligno , Neoplasias Pleurales , Humanos , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/patología , Mesotelioma Maligno/metabolismo , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/metabolismo , Neoplasias Pleurales/diagnóstico , Neoplasias Pleurales/metabolismo , Neoplasias Pleurales/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/metabolismo , Diagnóstico DiferencialRESUMEN
Mesothelial cells with reactive hyperplasia are difficult to distinguish from malignant mesothelioma cells based on cell morphology. This study aimed to identify and validate potential biomarkers that distinguish mesothelial cells from mesothelioma cells through machine learning combined with immunohistochemistry. It integrated the gene expression matrix from three Gene Expression Omnibus data sets (GSE2549, GSE12345, and GSE51024) to analyze the differently expressed genes between normal and mesothelioma tissues. Then, three machine learning algorithms, least absolute shrinkage and selection operator, support vector machine recursive feature elimination, and random forest were used to screen and obtain four shared candidate markers, including ACADL, EMP2, GPD1L, and HMMR. The receiver operating characteristic curve analysis showed that the area under the curve for distinguishing normal mesothelial cells from mesothelioma was 0.976, 0.943, 0.962, and 0.956, respectively. The expression and diagnostic performance of these candidate genes were validated in two additional independent data sets (GSE42977 and GSE112154), indicating that the performances of ACADL, GPD1L, and HMMR were consistent between the training and validation data sets. Finally, the optimal candidate marker ACADL was verified by immunohistochemistry assay. Acyl-CoA dehydrogenase long chain (ACADL) was stained strongly in mesothelial cells, especially for reactive hyperplasic mesothelial cells, but was negative in malignant mesothelioma cells. Therefore, ACADL has the potential to be used as a specific marker of reactive hyperplasic mesothelial cells in the differential diagnosis of mesothelioma.
Asunto(s)
Biomarcadores de Tumor , Biología Computacional , Aprendizaje Automático , Mesotelioma Maligno , Mesotelioma , Humanos , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Mesotelioma/genética , Mesotelioma/patología , Mesotelioma/diagnóstico , Mesotelioma/metabolismo , Biología Computacional/métodos , Mesotelioma Maligno/genética , Mesotelioma Maligno/patología , Mesotelioma Maligno/metabolismo , Mesotelioma Maligno/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/diagnóstico , Epitelio/metabolismo , Epitelio/patologíaRESUMEN
This paper reviews some basic and some new concepts in the diagnosis of mesothelioma. The term "malignant mesothelioma" is no longer recommended; rather, any tumor labeled "mesothelioma" is presumed to be malignant. Clinical and radiologic information is very useful in the diagnosis of mesothelioma; in particular, nodular pleural thickening on CT is usually a marker of malignancy. The literature on markers that separate mesotheliomas from metastatic carcinomas has become very complex and frequently misleading, with many recommended markers actually demonstrating poor specificity. However, newer data show that a combination of HEG1 (clone SKM9-2) and claudin4 staining provides extremely high accuracy in separating epithelioid mesotheliomas from non-small-cell lung carcinomas with just two immunostains. This combination works at other sites as well, but caution should be used when high-grade serous carcinoma is in the differential, because all "mesothelioma" markers can also stain high-grade serous carcinomas. There are, unfortunately, no sensitive or specific markers for sarcomatoid mesotheliomas. A variety of immunohistochemical and fluorescence in situ hybridization (FISH) markers are useful in separating benign from malignant mesothelial proliferations; immunohistochemal staining for BAP1, MTAP (or CDKN2A FISH), and NF2/Merlin (or NF2 FISH) will enable the diagnosis of most mesotheliomas. Mesothelioma in situ is now recognized as either a single layer of bland cuboidal mesothelial cells that have lost BAP1, and sometimes MTAP, on immunohistochemical staining, or a process that is morphologically identical to a well-differentiated papillary mesothelial tumor that has lost BAP1/MTAP. Mesothelioma in situ probably always progresses to invasive mesothelioma, but this process is often quite slow.
Asunto(s)
Biomarcadores de Tumor , Inmunohistoquímica , Mesotelioma , Humanos , Mesotelioma/patología , Mesotelioma/diagnóstico , Mesotelioma/metabolismo , Biomarcadores de Tumor/metabolismo , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/metabolismo , Mesotelioma Maligno/patología , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/metabolismo , Neoplasias Pleurales/patología , Neoplasias Pleurales/diagnóstico , Neoplasias Pleurales/metabolismo , Diagnóstico Diferencial , Hibridación Fluorescente in SituRESUMEN
RATIONALE: Malignant peritoneal mesothelioma (MPM) is a rare clinical disease. Although there are several reports describing intraperitoneal mesothelioma of the lung, liver, and intestine, retroperitoneal mesothelioma is, to our knowledge, very rare and rarely reported. In recent years, our best clinical protocols for the treatment and diagnosis of retroperitoneal mesothelioma have not been proven and the diagnosis and treatment are challenging. PATIENT CONCERNS: A 37-year-old Chinese woman complained of bilateral low back pain for a month, with obvious symptoms of low back pain on the left side. To treat low back pain, retroperitoneal masses were found during physical examination. The patient consulted a urological specialist for further treatment. DIAGNOSIS: After the operation, pathological biopsy confirmed retroperitoneal epithelioid diffuse mesothelioma. INTERVENTIONS: After exclusion of surgical contraindications, the patient underwent laparoscopic retroperitoneal lesion resection under tracheal intubation and general anesthesia, and the operation was successful. OUTCOMES: On the tenth day after surgery, the patient vital signs were stable, and he was discharged. LESSONS: Patients with malignant peritoneal mesothelioma may have no typical clinical symptoms, and the diagnosis is based on pathological and immunohistochemical examination. In selected patients, surgical cell reduction and intraoperative intraperitoneal heat chemotherapy have become the first choice of treatment, which can achieve ideal therapeutic effects and prolong survival.
Asunto(s)
Mesotelioma Maligno , Neoplasias Retroperitoneales , Humanos , Adulto , Femenino , Neoplasias Retroperitoneales/diagnóstico , Neoplasias Retroperitoneales/cirugía , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/terapia , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/patología , Mesotelioma Maligno/terapia , Mesotelioma/diagnóstico , Mesotelioma/patología , Mesotelioma/terapia , Mesotelioma/cirugía , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/patología , Neoplasias Peritoneales/terapia , Neoplasias Peritoneales/cirugía , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Laparoscopía/métodosAsunto(s)
Mesotelioma , Humanos , Mesotelioma/diagnóstico , Mesotelioma/tratamiento farmacológico , Mesotelioma/genética , Mesotelioma/cirugía , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/tratamiento farmacológico , Mesotelioma Maligno/genética , Mesotelioma Maligno/cirugía , Mutación , Medicina de Precisión/tendenciasRESUMEN
INTRODUCTION: The diagnosis of mesothelioma has historically been challenging, especially on serous fluid cytology (SFC). Distinguishing between reactive and neoplastic mesothelial cells can be difficult on cytomorphology alone. However, additional ancillary tests, such as BRCA1 associated protein-1 immunohistochemistry and fluorescence in situ hybridization for cyclin-dependent kinase inhibitor 2A deletion, can provide a sensitive and highly specific method of proving malignancy. MATERIALS AND METHODS: SFC specimens diagnosed as mesothelioma, suspicious for mesothelioma (SM), and atypical mesothelial cells (AMCs) since 2012 were identified by querying the laboratory information system. Clinical data and pathologic parameters were gathered. RESULTS: One hundred ten cases of mesothelioma, SM, and AMC were identified. Of these, 61 cases had a definitive diagnosis of mesothelioma on SFC. Average age at SFC diagnosis was 67 years (26-87 years), with most patients being male (67%). Out of the 61 cases, 11 cases (18%) had an initial diagnosis of mesothelioma made on SFC specimens, with 5 of these 11 cases being in patients that never received a histologic diagnosis of mesothelioma. Ancillary studies were utilized in all 11 cases. An initial diagnosis of metastatic mesothelioma was made on SFC in 9 cases (15%). For 6 of these 9 cases, the SFC diagnosis was the sole diagnosis of metastatic mesothelioma without a companion histologic diagnosis. In addition, 15 cases were diagnosed as SM, with 11 of these cases following a definitive mesothelioma diagnosis. Thirty-four cases were diagnosed as AMC, with 27 cases following a definitive mesothelioma diagnosis. CONCLUSIONS: The diagnosis of mesothelioma can be reliably made on SFC with the appropriate cytomorphology criteria and/or confirmatory ancillary testing.
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Biomarcadores de Tumor , Citodiagnóstico , Mesotelioma , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Líquido Ascítico/patología , Citodiagnóstico/métodos , Diagnóstico Diferencial , Inmunohistoquímica , Hibridación Fluorescente in Situ/métodos , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/diagnóstico , Mesotelioma/patología , Mesotelioma/diagnóstico , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/patología , Derrame Pleural Maligno/patología , Derrame Pleural Maligno/diagnóstico , Proteínas Supresoras de Tumor , Ubiquitina TiolesterasaRESUMEN
PURPOSE: Mesothelioma is an incurable, asbestos-related cancer with a poor prognosis. There is scant evidence about the mental health and well-being impacts on patients and carers living with the illness. This study aimed to investigate mesothelioma's impact on mental health and well-being and the scale of mental health conditions in patients and informal carers. METHODS: A mixed-methods design was used: a cross-sectional survey of mesothelioma patients and informal carers plus semi-structured interviews with patients and carers. The survey used validated scales collecting data on mental health aspects of mesothelioma: the EQ5D to assess health-related quality-of-life; the Hospital Anxiety and Depression scale; the PCL-5 to assess Posttraumatic Stress; and the Posttraumatic Growth Inventory. The datasets were integrated during analysis. RESULTS: 96 useable survey responses were received. A clinical level of depression was reported by 29 participants (30.21%), of anxiety by 48 (50%), of posttraumatic distress disorder by 32 (33.33%), and of posttraumatic growth by 34 (35.42%). Carers had worse scores than patients. Three main themes were developed from interviews with 10 patients and 11 carers: 'Prognosis', 'Support from services', and 'Social connections and communication'. CONCLUSIONS: Healthcare professionals delivering a mesothelioma diagnosis require regular training in communication skills plus updating in current treatment options, so they provide an appropriate mix of realism and hope. Better signposting to mental health support is needed for patients and carers. Our introduction of posttraumatic growth into the mesothelioma literature is novel. We recommend specialist nurses are trained to recognise, understand, and foster posttraumatic growth.
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Cuidadores , Mesotelioma , Calidad de Vida , Humanos , Masculino , Femenino , Mesotelioma/diagnóstico , Mesotelioma/psicología , Estudios Transversales , Persona de Mediana Edad , Anciano , Cuidadores/psicología , Adulto , Salud Mental , Depresión/epidemiología , Depresión/diagnóstico , Ansiedad/epidemiología , Ansiedad/diagnóstico , Anciano de 80 o más Años , Trastornos por Estrés Postraumático/diagnóstico , Trastornos por Estrés Postraumático/epidemiología , Encuestas y Cuestionarios , Mesotelioma Maligno/diagnósticoRESUMEN
Malignant pleural mesothelioma (MPM) develops primarily from asbestos exposures and has a poor prognosis. In this study, The Cancer Genome Atlas was used to perform a comprehensive survival analysis, which identified the CHST4 gene as a potential predictor of favorable overall survival for patients with MPM. An enrichment analysis of favorable prognostic genes, including CHST4, showed immune-related ontological terms, whereas an analysis of unfavorable prognostic genes indicated cell-cycle-related terms. CHST4 mRNA expression in MPM was significantly correlated with Bindea immune-gene signatures. To validate the relationship between CHST4 expression and prognosis, we performed an immunohistochemical analysis of CHST4 protein expression in 23 surgical specimens from surgically treated patients with MPM who achieved macroscopic complete resection. The score calculated from the proportion and intensity staining was used to compare the intensity of CHST4 gene expression, which showed that CHST4 expression was stronger in patients with a better postoperative prognosis. The median overall postoperative survival was 107.8 months in the high-expression-score group and 38.0 months in the low-score group (p = 0.044, log-rank test). Survival after recurrence was also significantly improved by CHST4 expression. These results suggest that CHST4 is useful as a prognostic biomarker in MPM.
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Amianto , Mesotelioma Maligno , Humanos , Amianto/toxicidad , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Mesotelioma Maligno/diagnóstico , Mesotelioma Maligno/genética , Análisis de SupervivenciaRESUMEN
Malignant mesothelioma of the tunica vaginalis is an extremely rare and aggressive tumor that is frequently encountered in elderly patients. The diagnosis of malignant mesothelioma of the tunica vaginalis poses a diagnostic challenge due to its infrequency and nonspecific clinical presentation. Histopathological examination and immunohistochemical staining are essential in differentiating this tumor from other para-testicular masses and establishing a definitive diagnosis. Early detection and comprehensive treatment planning are crucial for improving the prognosis and overall outcomes for patients with this rare malignancy. We present a report of malignant mesothelioma of the tunica vaginalis in a 78-year-old male patient with no history of asbestos exposure who presented with a large infiltrative left para-testicular mass. Histopathological examination revealed a biphasic proliferation composed of epithelioid and spindle cells with infiltrative features, foci of necrosis, and increased mitotic figures. Immunohistochemical staining exhibited positive staining for WT1, D2-40, and calretinin, supporting the mesothelial origin of the tumor. Notably, BerEP4 staining was negative, arguing against carcinoma. Immunostaining for keratin 5 was positive, supporting the mesothelial differentiation. The Ki67 proliferation index was high. The differential diagnosis included adenomatoid tumors, germ cell tumors, and pleomorphic sarcoma. We aim to discuss the clinical presentation, diagnostic approach, and therapeutic approaches of this rare entity.
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Biomarcadores de Tumor , Mesotelioma Maligno , Neoplasias Testiculares , Humanos , Masculino , Anciano , Neoplasias Testiculares/patología , Neoplasias Testiculares/diagnóstico , Mesotelioma Maligno/patología , Mesotelioma Maligno/diagnóstico , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/metabolismo , Diagnóstico Diferencial , Mesotelioma/diagnóstico , Mesotelioma/patología , Testículo/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patologíaRESUMEN
BACKGROUND: The diagnosis of mesothelioma may be challenging. We investigated a large database of cases in order to determine the frequency with which a diagnosis of mesothelioma was made incorrectly and the most frequent causes of error. DESIGN: A database including more than 4000 consultation cases of histologically confirmed mesothelioma was examined to identify cases in which mesothelioma was diagnosed by at least one pathologist when the available information pointed towards a different diagnosis. RESULTS: There were 311 cases misdiagnosed as mesothelioma. The most common category was metastatic carcinoma to the pleura or peritoneum (129 cases: 73 lung carcinomas, 15 renal cell carcinomas). The next most common category was primary lung cancer (111 cases: 55 sarcomatoid carcinoma, 56 pseudomesotheliomatous carcinoma). The third most common category was primary malignancies arising from or near the serosal membranes (33 cases). The fourth most common category was fibrous pleurisy (38 cases). The most common errors were failure to consider important radiographic information regarding the gross distribution of tumor, lack of awareness or consideration of another malignancy, overreliance on certain immunohistochemical results, and failure to perform certain diagnostic histochemical, immunohistochemical, or ultrastructural studies. CONCLUSIONS: There are a number of diagnostic pitfalls that can lead to the over diagnosis of mesothelioma. Careful attention to clinical and radiographic information as well as performance of appropriate ancillary tests can help to prevent such misdiagnoses. Detailed examples will be presented to assist in the avoidance of these pitfalls with emphasis on the most commonly observed errors.